Variant report

Variant	esv3439435
Chromosome Location	chr12:123634349-123637047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:428)
CpG islands
(count:611)
Chromatin interactive
region (count:37)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:123634748-123634916	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr12:123635797-123636581	GM12878	blood:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
3	BCL3	chr12:123635804-123636673	A549	lung:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
4	BCL3	chr12:123635853-123636704	A549	lung:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
5	BCLAF1	chr12:123636108-123636415	GM12878	blood:	n/a	n/a
6	BHLHE40	chr12:123635350-123635686	HepG2	liver:	n/a	chr12:123635487-123635503
7	BHLHE40	chr12:123635332-123635746	K562	blood:	n/a	chr12:123635487-123635503
8	BHLHE40	chr12:123635338-123635679	GM12878	blood:	n/a	chr12:123635487-123635503
9	CBX3	chr12:123634003-123634492	K562	blood:	n/a	n/a
10	CCNT2	chr12:123634810-123636248	K562	blood:	n/a	chr12:123634810-123634819
11	CCNT2	chr12:123634063-123634469	K562	blood:	n/a	n/a
12	CEBPD	chr12:123633841-123634507	K562	blood:	n/a	n/a
13	CEBPD	chr12:123633928-123634492	K562	blood:	n/a	n/a
14	CHD1	chr12:123635864-123636113	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr12:123635950-123635991	Hela-S3	cervix:	n/a	n/a
16	CREB1	chr12:123635121-123636039	A549	lung:	n/a	n/a
17	CTCF	chr12:123635600-123635750	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr12:123635585-123635749	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr12:123635560-123635710	HVMF	connective:	n/a	n/a
20	CTCF	chr12:123636160-123636310	AG10803	skin:	n/a	chr12:123636264-123636273
21	CTCF	chr12:123636020-123636170	SAEC	small airway:	n/a	n/a
22	CTCF	chr12:123635553-123635729	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:123635519-123635761	Fibrobl	skin:	n/a	n/a
24	CTCF	chr12:123635384-123635765	HepG2	liver:	n/a	n/a
25	CTCF	chr12:123635438-123635549	GM13976	blood:	n/a	n/a
26	CTCF	chr12:123635620-123635770	GM12873	blood:	n/a	n/a
27	CTCF	chr12:123635605-123635688	MCF-7	breast:	n/a	n/a
28	CTCF	chr12:123635400-123635550	GM12868	blood:	n/a	n/a
29	CTCF	chr12:123635900-123636050	HFF	foreskin:	n/a	n/a
30	CTCF	chr12:123635507-123635793	A549	lung:	n/a	n/a
31	CTCF	chr12:123635536-123635762	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr12:123635320-123635470	GM12864	blood:	n/a	n/a
33	CTCF	chr12:123635527-123635830	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr12:123635276-123635982	K562	blood:	n/a	n/a
35	CTCF	chr12:123635560-123635710	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr12:123635529-123635792	GM19239	blood:	n/a	n/a
37	CTCF	chr12:123635940-123636090	HCM	heart:	n/a	n/a
38	CTCF	chr12:123635900-123636050	BJ	skin:	n/a	n/a
39	CTCF	chr12:123635600-123635750	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr12:123635600-123635750	AG09309	skin:	n/a	n/a
41	CTCF	chr12:123635553-123635732	K562	blood:	n/a	n/a
42	CTCF	chr12:123635534-123635535	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr12:123635522-123635770	A549	lung:	n/a	n/a
44	CTCF	chr12:123635580-123635730	GM12866	blood:	n/a	n/a
45	CTCF	chr12:123635580-123635730	AG09319	gingival:	n/a	n/a
46	CTCF	chr12:123635505-123635515	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr12:123636060-123636210	AG09319	gingival:	n/a	n/a
48	CTCF	chr12:123635400-123635550	GM12869	blood:	n/a	n/a
49	CTCF	chr12:123635580-123635730	GM12868	blood:	n/a	n/a
50	CTCF	chr12:123635560-123635710	GM12871	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123636279-123636329	A549	lung:	n/a
2	chr12:123636279-123636329	A549	lung:	n/a
3	chr12:123634384-123634434	MCF10A-Er-Src	breast:	n/a
4	chr12:123636279-123636329	HNPCEpiC	eye:	n/a
5	chr12:123636175-123636225	Jurkat	blood:	n/a
6	chr12:123636175-123636225	AG04449	skin:	fetal
7	chr12:123634384-123634434	HUVEC	blood vessel:	n/a
8	chr12:123635215-123635265	SKMC	muscle:	n/a
9	chr12:123636175-123636225	HCT-116	colon:	n/a
10	chr12:123635770-123635820	AG09309	skin:	n/a
11	chr12:123636717-123636767	AG10803	skin:	n/a
12	chr12:123636717-123636767	ovcar-3	ovarian:	n/a
13	chr12:123636548-123636598	HRCEpiC	kidney:	n/a
14	chr12:123634957-123635007	HCPEpiC	choroid plexus:	n/a
15	chr12:123636175-123636225	HCF	heart:	n/a
16	chr12:123634957-123635007	HCM	heart:	n/a
17	chr12:123635215-123635265	BE2_C	brain:	n/a
18	chr12:123636279-123636329	MCF10A-Er-Src	breast:	n/a
19	chr12:123636175-123636225	MCF-7	breast:	n/a
20	chr12:123635770-123635820	AG04450	lung:	fetal
21	chr12:123636175-123636225	Caco-2	colon:	n/a
22	chr12:123636717-123636767	U87	brain:	n/a
23	chr12:123634384-123634434	NB4	blood:	n/a
24	chr12:123636717-123636767	CMK	blood:	n/a
25	chr12:123636717-123636767	RPTEC	kidney:	n/a
26	chr12:123636175-123636225	AG09309	skin:	n/a
27	chr12:123636175-123636225	HUVEC	blood vessel:	n/a
28	chr12:123634384-123634434	Hela-S3	cervix:	n/a
29	chr12:123634384-123634434	HCF	heart:	n/a
30	chr12:123636279-123636329	GM19239	blood:	n/a
31	chr12:123635770-123635820	PANC-1	pancreas:	n/a
32	chr12:123636505-123636555	HL-60	blood:	n/a
33	chr12:123636480-123636530	HEK293	kidney:	embryo
34	chr12:123636717-123636767	HCF	heart:	n/a
35	chr12:123635770-123635820	H1-hESC	embryonic stem cell:	embryo
36	chr12:123636279-123636329	PANC-1	pancreas:	n/a
37	chr12:123636480-123636530	HRCEpiC	kidney:	n/a
38	chr12:123634384-123634434	NH-A	brain:	n/a
39	chr12:123636279-123636329	AG04449	skin:	fetal
40	chr12:123636548-123636598	U87	brain:	n/a
41	chr12:123636175-123636225	H1-hESC	embryonic stem cell:	embryo
42	chr12:123636717-123636767	HRE	kidney:	n/a
43	chr12:123634957-123635007	HMEC	breast:	n/a
44	chr12:123636480-123636530	IMR90	lung:	fetal
45	chr12:123636505-123636555	AG10803	skin:	n/a
46	chr12:123634384-123634434	HNPCEpiC	eye:	n/a
47	chr12:123636548-123636598	Jurkat	blood:	n/a
48	chr12:123636717-123636767	HCPEpiC	choroid plexus:	n/a
49	chr12:123636279-123636329	ECC-1	luminal epithelium:	n/a
50	chr12:123634384-123634434	Caco-2	colon:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123463900..123466022-chr12:123633750..123636695,4	K562	blood:
2	chr12:123560007..123560783-chr12:123635231..123636092,3	MCF-7	breast:
3	chr12:123463900..123467066-chr12:123633750..123636695,4	K562	blood:
4	chr12:123632948..123634613-chr12:123717747..123719847,2	K562	blood:
5	chr12:123635970..123638934-chr12:124084716..124087509,2	MCF-7	breast:
6	chr12:123636212..123638464-chr12:123674064..123676672,2	K562	blood:
7	chr12:123574871..123577625-chr12:123635000..123637260,3	MCF-7	breast:
8	chr12:123318440..123320805-chr12:123633475..123636263,2	MCF-7	breast:
9	chr12:123461071..123463448-chr12:123634660..123637484,2	K562	blood:
10	chr12:123552676..123554200-chr12:123634961..123636565,2	K562	blood:
11	chr12:123617700..123620555-chr12:123634870..123636855,3	MCF-7	breast:
12	chr12:123588003..123590511-chr12:123634129..123636612,2	MCF-7	breast:
13	chr12:123634123..123636368-chr12:123714378..123717139,2	MCF-7	breast:
14	chr12:123633613..123635147-chr12:123636492..123638541,2	MCF-7	breast:
15	chr12:123547606..123549243-chr12:123635108..123637286,2	MCF-7	breast:
16	chr12:123527678..123528658-chr12:123634881..123635709,3	MCF-7	breast:
17	chr12:123568355..123570038-chr12:123635637..123637696,2	MCF-7	breast:
18	chr12:123575945..123576658-chr12:123634764..123635731,2	K562	blood:
19	chr12:123314439..123317163-chr12:123634963..123637139,2	K562	blood:
20	chr12:123634522..123637208-chr12:123639726..123642249,4	K562	blood:
21	chr12:123633368..123635688-chr12:123701614..123704544,2	MCF-7	breast:
22	chr12:123635735..123637727-chr12:123641892..123644139,3	MCF-7	breast:
23	chr12:123635702..123637213-chr14:50040000..50041712,2	MCF-7	breast:
24	chr12:123526656..123529148-chr12:123634939..123636869,3	MCF-7	breast:
25	chr12:123635131..123637261-chr12:123715659..123718138,3	K562	blood:
26	chr12:123634768..123637262-chr12:124085657..124088192,2	K562	blood:
27	chr12:123459026..123459635-chr12:123635355..123635887,2	K562	blood:
28	chr12:123634064..123637299-chr12:123639365..123644376,5	K562	blood:
29	chr12:123458168..123460396-chr12:123636633..123638279,2	K562	blood:
30	chr12:123527678..123528374-chr12:123635168..123636082,3	MCF-7	breast:
31	chr12:123445391..123447218-chr12:123635321..123636848,2	K562	blood:
32	chr12:123517171..123520609-chr12:123634791..123638617,3	K562	blood:
33	chr12:123634053..123636860-chr12:123645111..123649875,5	MCF-7	breast:
34	chr12:123635116..123639048-chr12:123716065..123719246,5	K562	blood:
35	chr12:123540726..123542900-chr12:123635050..123636986,3	MCF-7	breast:
36	chr12:123633130..123634910-chr12:123716201..123717715,2	K562	blood:
37	chr12:123634793..123637876-chr12:123640152..123646460,6	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPHOSPH9-1	chr12:123636867-123637172	NONHSAT031566

No data

Variant related genes	Relation type
PITPNM2	TF binding region
PITPNM2	CpG island
ENSG00000090975	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000256028	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545289323	chr12:123634398-123634399	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs369854083	chr12:123634630-123634631	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs192273702	chr12:123634672-123634673	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs530814901	chr12:123634701-123634702	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs542677773	chr12:123634746-123634747	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs115532040	chr12:123634810-123634811	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs555529638	chr12:123634829-123634830	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs112681709	chr12:123634891-123634892	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs546340269	chr12:123634900-123634901	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs571817677	chr12:123634952-123634953	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs532645277	chr12:123634992-123634993	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs551146806	chr12:123634993-123634994	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs369723174	chr12:123635083-123635084	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs569245784	chr12:123635094-123635095	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs1716183	chr12:123635096-123635097	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs554566177	chr12:123635295-123635296	Weak transcription Bivalent/Poised TSS Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs113583564	chr12:123635314-123635315	Weak transcription Bivalent/Poised TSS Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs11057168	chr12:123635546-123635547	Weak transcription Bivalent/Poised TSS Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs534310031	chr12:123635641-123635642	Weak transcription Bivalent/Poised TSS Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs12819680	chr12:123635775-123635776	Weak transcription Bivalent/Poised TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs558735434	chr12:123635785-123635786	Weak transcription Bivalent/Poised TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs12821252	chr12:123635833-123635834	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs577263099	chr12:123635955-123635956	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs544915349	chr12:123635967-123635968	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs557175463	chr12:123635974-123635975	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs575636775	chr12:123636076-123636077	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs187785291	chr12:123636087-123636088	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs192580719	chr12:123636099-123636100	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs572705782	chr12:123636112-123636113	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs184442055	chr12:123636176-123636177	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs564873529	chr12:123636211-123636212	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs532219325	chr12:123636264-123636265	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs11057169	chr12:123636283-123636284	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs550791914	chr12:123636295-123636296	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs532625263	chr12:123636301-123636302	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs562715096	chr12:123636308-123636309	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs530343323	chr12:123636332-123636333	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs548433547	chr12:123636350-123636351	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs189578401	chr12:123636373-123636374	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs192665489	chr12:123636388-123636389	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs552532695	chr12:123636422-123636423	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs200131729	chr12:123636466-123636467	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs570888697	chr12:123636470-123636471	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs371106757	chr12:123636492-123636493	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs557212278	chr12:123636506-123636507	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs577943285	chr12:123636521-123636522	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs113034476	chr12:123636522-123636523	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs575473797	chr12:123636541-123636542	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs536555755	chr12:123636587-123636588	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs150178337	chr12:123636601-123636602	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123625400-123634600	Weak transcription	Aorta	Aorta
2	chr12:123627000-123634800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123627800-123634400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:123628800-123634400	Weak transcription	Esophagus	oesophagus
5	chr12:123631200-123634400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
6	chr12:123631200-123634800	Transcr. at gene 5' and 3'	Thymus	Thymus
7	chr12:123631600-123634400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:123632000-123634600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:123632200-123634400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:123632400-123634400	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:123632600-123634800	Enhancers	Spleen	Spleen
12	chr12:123632800-123634400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:123632800-123634400	Enhancers	Left Ventricle	heart
14	chr12:123633200-123634400	Enhancers	Pancreas	Pancrea
15	chr12:123633200-123634600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:123633200-123634600	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr12:123633200-123634600	Enhancers	Right Atrium	heart
18	chr12:123633400-123634400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:123633400-123634400	Enhancers	Brain Substantia Nigra	brain
20	chr12:123633400-123634400	Enhancers	Gastric	stomach
21	chr12:123633400-123634400	Flanking Active TSS	HepG2	liver
22	chr12:123633400-123634600	Enhancers	Fetal Intestine Large	intestine
23	chr12:123633400-123634600	Enhancers	Placenta	Placenta
24	chr12:123633600-123634600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:123633600-123634800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr12:123633800-123634400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:123633800-123634400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:123633800-123634400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:123633800-123634400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:123633800-123634400	Enhancers	Fetal Kidney	kidney
31	chr12:123633800-123634400	Enhancers	HUVEC	blood vessel
32	chr12:123633800-123634400	Enhancers	NH-A	brain
33	chr12:123633800-123634600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:123633800-123634600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:123633800-123634600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr12:123633800-123634600	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr12:123633800-123634600	Enhancers	Small Intestine	intestine
38	chr12:123633800-123634600	Flanking Active TSS	Hela-S3	cervix
39	chr12:123633800-123634600	Flanking Active TSS	NHDF-Ad	bronchial
40	chr12:123633800-123634800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr12:123633800-123634800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:123633800-123634800	Flanking Active TSS	K562	blood
43	chr12:123633800-123635000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr12:123633800-123635000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:123633800-123635000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr12:123633800-123635000	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr12:123633800-123635000	Enhancers	Fetal Brain Male	brain
48	chr12:123633800-123635200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr12:123633800-123635200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr12:123633800-123636000	Active TSS	Brain Inferior Temporal Lobe	brain

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