Variant report

Variant	esv19135
Chromosome Location	chr12:49676002-49690399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:726)
CpG islands
(count:612)
Chromatin interactive
region (count:62)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:49682086-49682445	K562	blood:	n/a	n/a
2	ATF2	chr12:49682026-49682523	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr12:49682010-49682453	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr12:49690331-49690718	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr12:49682188-49682403	GM12878	blood:	n/a	n/a
6	BCL3	chr12:49690186-49690852	A549	lung:	n/a	chr12:49690479-49690492 chr12:49690377-49690386
7	BHLHE40	chr12:49690367-49690696	K562	blood:	n/a	n/a
8	BHLHE40	chr12:49682267-49682558	K562	blood:	n/a	n/a
9	BHLHE40	chr12:49682199-49682498	A549	lung:	n/a	n/a
10	BRCA1	chr12:49682153-49682423	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr12:49682098-49682409	GM12878	blood:	n/a	n/a
12	CBX3	chr12:49690377-49690710	K562	blood:	n/a	n/a
13	CCNT2	chr12:49690365-49691350	K562	blood:	n/a	n/a
14	CEBPB	chr12:49683869-49684073	K562	blood:	n/a	n/a
15	CEBPB	chr12:49690248-49690554	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr12:49682329-49682330	GM12878	blood:	n/a	n/a
17	CHD1	chr12:49690354-49690502	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr12:49682197-49682405	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr12:49690327-49690497	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr12:49682103-49682458	A549	lung:	n/a	n/a
21	CREB1	chr12:49690266-49690698	A549	lung:	n/a	n/a
22	CREB1	chr12:49681992-49682573	GM12878	blood:	n/a	n/a
23	CREB1	chr12:49682077-49682587	K562	blood:	n/a	n/a
24	CREB1	chr12:49682062-49682560	GM12878	blood:	n/a	n/a
25	CREB1	chr12:49682173-49682444	A549	lung:	n/a	n/a
26	CREB1	chr12:49682108-49682517	K562	blood:	n/a	n/a
27	CREB1	chr12:49682033-49682532	HepG2	liver:	n/a	n/a
28	CREB1	chr12:49682042-49682542	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr12:49682053-49682664	HepG2	liver:	n/a	n/a
30	CREB1	chr12:49681962-49682658	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTBP2	chr12:49686916-49687671	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTBP2	chr12:49690112-49691263	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr12:49690334-49690635	MCF-7	breast:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
34	CTCF	chr12:49690333-49690644	GM10248	blood:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
35	CTCF	chr12:49690380-49690530	HMF	breast:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
36	CTCF	chr12:49677920-49678070	HBMEC	blood vessel:	n/a	chr12:49677977-49677993
37	CTCF	chr12:49689049-49689289	HepG2	liver:	n/a	n/a
38	CTCF	chr12:49682012-49682595	K562	blood:	n/a	chr12:49682288-49682301 chr12:49682287-49682308 chr12:49682285-49682303
39	CTCF	chr12:49689120-49689270	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr12:49677920-49678070	GM12868	blood:	n/a	chr12:49677977-49677993
41	CTCF	chr12:49690360-49690510	BJ	skin:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
42	CTCF	chr12:49689140-49689290	AG04449	skin:	n/a	n/a
43	CTCF	chr12:49677876-49678089	A549	lung:	n/a	chr12:49677977-49677993
44	CTCF	chr12:49677999-49678003	MCF-7	breast:	n/a	n/a
45	CTCF	chr12:49682200-49682350	GM12873	blood:	n/a	chr12:49682288-49682301 chr12:49682287-49682308 chr12:49682285-49682303
46	CTCF	chr12:49689155-49689188	HepG2	liver:	n/a	n/a
47	CTCF	chr12:49682240-49682390	BJ	skin:	n/a	chr12:49682288-49682301 chr12:49682287-49682308 chr12:49682285-49682303
48	CTCF	chr12:49682600-49682750	GM12865	blood:	n/a	chr12:49682718-49682727
49	CTCF	chr12:49677819-49678148	A549	lung:	n/a	chr12:49677977-49677993
50	CTCF	chr12:49682200-49682350	AG04449	skin:	n/a	chr12:49682288-49682301 chr12:49682287-49682308 chr12:49682285-49682303

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49688844-49688894	GM12891	blood:	n/a
2	chr12:49690254-49690304	ProgFib	skin:	n/a
3	chr12:49688844-49688894	GM12891	blood:	n/a
4	chr12:49690254-49690304	ProgFib	skin:	n/a
5	chr12:49686619-49686669	SAEC	small airway:	n/a
6	chr12:49688844-49688894	HMEC	breast:	n/a
7	chr12:49688176-49688226	HRPEpiC	eye:	n/a
8	chr12:49688176-49688226	K562	blood:	n/a
9	chr12:49687715-49687765	Hepatocyte	liver:	n/a
10	chr12:49688980-49689030	HepG2	liver:	n/a
11	chr12:49690254-49690304	NHDF-neo	bronchial:	n/a
12	chr12:49688316-49688366	IMR90	lung:	fetal
13	chr12:49689212-49689262	GM12878	blood:	n/a
14	chr12:49688176-49688226	MCF-7	breast:	n/a
15	chr12:49689685-49689735	HEK293	kidney:	embryo
16	chr12:49686619-49686669	HIPEpiC	eye:	n/a
17	chr12:49686619-49686669	RPTEC	kidney:	n/a
18	chr12:49690254-49690304	AG04450	lung:	fetal
19	chr12:49689212-49689262	RPTEC	kidney:	n/a
20	chr12:49689463-49689513	AG04449	skin:	fetal
21	chr12:49686619-49686669	GM12878	blood:	n/a
22	chr12:49687715-49687765	AG09319	gingival:	n/a
23	chr12:49688980-49689030	HMEC	breast:	n/a
24	chr12:49689212-49689262	AG04450	lung:	fetal
25	chr12:49686619-49686669	Hela-S3	cervix:	n/a
26	chr12:49688316-49688366	GM12878	blood:	n/a
27	chr12:49689685-49689735	HepG2	liver:	n/a
28	chr12:49690254-49690304	HEK293	kidney:	embryo
29	chr12:49687715-49687765	HEEpiC	esophagus:	n/a
30	chr12:49689463-49689513	HCT-116	colon:	n/a
31	chr12:49689463-49689513	GM12892	blood:	n/a
32	chr12:49689212-49689262	HUVEC	blood vessel:	n/a
33	chr12:49686619-49686669	NT2-D1	testis:	n/a
34	chr12:49687715-49687765	GM06990	blood:	n/a
35	chr12:49688844-49688894	ovcar-3	ovarian:	n/a
36	chr12:49690254-49690304	BE2_C	brain:	n/a
37	chr12:49688316-49688366	HAEpiC	amniotic membrane:	n/a
38	chr12:49689212-49689262	AG09309	skin:	n/a
39	chr12:49688980-49689030	AoSMC	blood vessel:	n/a
40	chr12:49686619-49686669	HCF	heart:	n/a
41	chr12:49688844-49688894	HCT-116	colon:	n/a
42	chr12:49690254-49690304	HCF	heart:	n/a
43	chr12:49690254-49690304	SKMC	muscle:	n/a
44	chr12:49689463-49689513	HRCEpiC	kidney:	n/a
45	chr12:49689685-49689735	ProgFib	skin:	n/a
46	chr12:49690254-49690304	MCF-7	breast:	n/a
47	chr12:49688176-49688226	U87	brain:	n/a
48	chr12:49687715-49687765	BJ	skin:	n/a
49	chr12:49688844-49688894	HAEpiC	amniotic membrane:	n/a
50	chr12:49690254-49690304	NHBE	bronchial:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:49656722..49663896-chr12:49682381..49687774,8	K562	blood:
2	chr12:49689044..49692243-chr12:49760659..49764012,4	MCF-7	breast:
3	chr12:49668368..49669871-chr12:49682424..49685316,2	MCF-7	breast:
4	chr12:49681895..49684314-chr12:49959799..49961402,2	MCF-7	breast:
5	chr12:49658709..49660780-chr12:49675611..49677871,3	MCF-7	breast:
6	chr12:49685493..49694205-chr12:49728829..49734805,16	K562	blood:
7	chr12:49657412..49661097-chr12:49680173..49683104,4	MCF-7	breast:
8	chr12:49676311..49678151-chr12:49685190..49687218,2	K562	blood:
9	chr12:49680691..49694205-chr12:49725987..49738512,25	K562	blood:
10	chr12:49664091..49667882-chr12:49690109..49694759,4	K562	blood:
11	chr12:49681907..49682823-chr12:49741104..49742122,6	MCF-7	breast:
12	chr12:49681949..49682809-chr12:49742499..49743052,2	K562	blood:
13	chr12:49682080..49684336-chr12:49718249..49720945,2	MCF-7	breast:
14	chr12:49654800..49660850-chr12:49685742..49692441,19	MCF-7	breast:
15	chr12:49667402..49669417-chr12:49680548..49682820,2	K562	blood:
16	chr12:49685018..49687263-chr12:49715369..49717175,2	K562	blood:
17	chr12:49680157..49683584-chr12:49686626..49689914,4	K562	blood:
18	chr12:49667913..49670211-chr12:49679594..49681611,2	MCF-7	breast:
19	chr12:49676556..49679894-chr12:49730163..49733307,3	MCF-7	breast:
20	chr12:49581641..49584379-chr12:49680689..49682648,2	MCF-7	breast:
21	chr12:49660927..49665723-chr12:49685096..49688729,4	MCF-7	breast:
22	chr12:49681784..49683022-chr12:49735866..49736958,14	K562	blood:
23	chr12:49683076..49686072-chr12:49740867..49742928,2	MCF-7	breast:
24	chr12:49677107..49685653-chr12:49686694..49692276,10	MCF-7	breast:
25	chr12:49681072..49683982-chr12:49740042..49742120,4	MCF-7	breast:
26	chr12:49681839..49682839-chr12:49731008..49731599,2	MCF-7	breast:
27	chr12:49681373..49684532-chr12:49689640..49692033,4	MCF-7	breast:
28	chr12:49681807..49682815-chr12:49750578..49751528,4	MCF-7	breast:
29	chr12:49686386..49687917-chr12:49689353..49691051,2	MCF-7	breast:
30	chr12:49681835..49682776-chr12:49735729..49737096,6	MCF-7	breast:
31	chr12:49681725..49683047-chr12:49690017..49691263,7	K562	blood:
32	chr12:49681842..49683325-chr12:49740711..49741813,10	K562	blood:
33	chr12:49681953..49682967-chr12:49730581..49731487,4	K562	blood:
34	chr12:49667022..49669779-chr12:49685141..49687257,2	K562	blood:
35	chr12:49678740..49680286-chr12:49680841..49682374,2	MCF-7	breast:
36	chr12:49674974..49678602-chr12:49682204..49684622,3	MCF-7	breast:
37	chr12:49674974..49678602-chr12:49682204..49684622,3	MCF-7	breast:
38	chr12:49666275..49670972-chr12:49688443..49691988,7	K562	blood:
39	chr12:49678740..49680286-chr12:49680841..49682374,2	MCF-7	breast:
40	chr12:49667022..49671096-chr12:49685141..49687523,3	K562	blood:
41	chr12:49674656..49677388-chr12:49681241..49683027,2	K562	blood:
42	chr12:49677467..49679581-chr12:49679946..49682245,2	K562	blood:
43	chr12:49686580..49692358-chr12:49712251..49718367,13	MCF-7	breast:
44	chr12:49656956..49663896-chr12:49681239..49693031,16	K562	blood:
45	chr12:49665631..49676200-chr12:49678297..49684493,17	K562	blood:
46	chr12:49656941..49662685-chr12:49687034..49693573,13	MCF-7	breast:
47	chr12:49682752..49684586-chr12:49760738..49763560,2	K562	blood:
48	chr12:49681812..49682734-chr12:49750562..49751558,2	K562	blood:
49	chr12:49687485..49689033-chr12:49958204..49960498,2	K562	blood:
50	chr12:49681831..49682839-chr12:49735834..49736883,5	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1QL4-2	chr12:49681292-49682146	XLOC_010069
2	lnc-C1QL4-3	chr12:49675897-49676768	ENSG00000257960
3	lnc-C1QL4-1	chr12:49686647-49687484	NONHSAT028095
4	lnc-C1QL4-1	chr12:49679532-49682146	NONHSAT028095
5	lnc-PRPH-1	chr12:49687507-49687780	NONHSAT028100
6	lnc-C1QL4-5	chr12:49685530-49685973	NONHSAT028098
7	lnc-PRPH-1	chr12:49687035-49687324	NONHSAT028100
8	lnc-C1QL4-3	chr12:49675882-49676768	ENSG00000250773
9	lnc-C1QL4-1	chr12:49681827-49682146	NONHSAT028097
10	lnc-C1QL4-2	chr12:49682852-49683068	XLOC_010069
11	lnc-C1QL4-1	chr12:49689043-49689072	NONHSAT028097

No data

Variant related genes	Relation type
PRPH	TF binding region
PRPH	CpG island
ENSG00000175093	chromatin interactions
ENSG00000178401	chromatin interactions
ENSG00000258232	chromatin interactions
ENSG00000135406	chromatin interactions
ENSG00000186897	chromatin interactions
ENSG00000258334	chromatin interactions
ENSG00000187778	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000123352	chromatin interactions
ENSG00000135451	chromatin interactions
ENSG00000167552	chromatin interactions
ENSG00000167553	chromatin interactions
TLK1	miRNA target sites
PROCR	miRNA target sites

Extended variants
information (count: 575 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10875943	chr12:49676010-49676011	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs545840361	chr12:49676097-49676098	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs556230125	chr12:49676114-49676115	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs576162326	chr12:49676139-49676140	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs114918447	chr12:49676148-49676149	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs562165128	chr12:49676149-49676150	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs572664290	chr12:49676154-49676155	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs541368489	chr12:49676179-49676180	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs573277534	chr12:49676188-49676189	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs189319156	chr12:49676239-49676240	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs532951881	chr12:49676346-49676347	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs549840891	chr12:49676354-49676355	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs563353774	chr12:49676411-49676412	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs573818335	chr12:49676418-49676419	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs549129162	chr12:49676419-49676420	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs534573878	chr12:49676451-49676452	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs564350046	chr12:49676513-49676514	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs565748831	chr12:49676516-49676517	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs146764586	chr12:49676551-49676552	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs551260626	chr12:49676553-49676554	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs571248812	chr12:49676579-49676580	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs368590297	chr12:49676624-49676625	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs539433795	chr12:49676697-49676698	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs61237420	chr12:49676724-49676725	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576100290	chr12:49676734-49676735	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs535591039	chr12:49676754-49676755	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs555886956	chr12:49676772-49676773	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs572553133	chr12:49676774-49676775	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs568034754	chr12:49676777-49676778	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs375727191	chr12:49676788-49676789	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs374904812	chr12:49676812-49676813	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs541656199	chr12:49676856-49676857	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs535436453	chr12:49676887-49676888	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs12320359	chr12:49676913-49676914	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs543416355	chr12:49676921-49676922	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs373772631	chr12:49676926-49676927	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs12320370	chr12:49676975-49676976	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs528944801	chr12:49676976-49676977	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs548810371	chr12:49676983-49676984	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs537247931	chr12:49677022-49677023	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs559446725	chr12:49677023-49677024	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs12300725	chr12:49677041-49677042	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs558756596	chr12:49677046-49677047	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs551197287	chr12:49677063-49677064	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs12300763	chr12:49677096-49677097	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs12306969	chr12:49677138-49677139	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549730617	chr12:49677159-49677160	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs569959617	chr12:49677164-49677165	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs535894233	chr12:49677165-49677166	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs555574330	chr12:49677166-49677167	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49668000-49678000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:49668400-49676200	Weak transcription	NHLF	lung
3	chr12:49668600-49682400	Weak transcription	HMEC	breast
4	chr12:49669000-49676200	Weak transcription	HSMM	muscle
5	chr12:49669000-49676400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:49671400-49676200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:49671800-49677600	Weak transcription	Hela-S3	cervix
8	chr12:49672200-49676400	Weak transcription	NHEK	skin
9	chr12:49673400-49676200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:49673800-49676200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:49674000-49676200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:49674000-49676200	Weak transcription	A549	lung
13	chr12:49674000-49676600	Weak transcription	Fetal Intestine Small	intestine
14	chr12:49674000-49677600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:49674000-49677600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:49674200-49677600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:49675200-49676800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:49675400-49676400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:49675600-49678200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:49675800-49676400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:49675800-49676600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:49675800-49676600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:49675800-49676800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:49676000-49676200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:49676000-49676600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:49676000-49676600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:49676000-49676600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr12:49676000-49676600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:49676000-49676800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:49676000-49676800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:49676000-49677000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:49676000-49677000	Enhancers	HSMMtube	muscle
33	chr12:49676000-49678200	Enhancers	K562	blood
34	chr12:49676200-49676400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:49676200-49676400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:49676200-49676400	Enhancers	NHLF	lung
37	chr12:49676200-49676600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:49676200-49676600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:49676200-49676600	Bivalent Enhancer	HepG2	liver
40	chr12:49676200-49676800	Enhancers	A549	lung
41	chr12:49676200-49676800	Enhancers	HSMM	muscle
42	chr12:49676400-49676600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:49676400-49676600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:49676400-49676600	Enhancers	NHEK	skin
45	chr12:49676400-49676800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:49676400-49677400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:49676600-49676800	Enhancers	Fetal Intestine Small	intestine
48	chr12:49676600-49677600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:49676600-49678000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:49676600-49678000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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