Variant report

Variant	nsv826367
Chromosome Location	chr12:49686493-49691709
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:49690331-49690718	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr12:49690186-49690852	A549	lung:	n/a	chr12:49690479-49690492 chr12:49690377-49690386
3	BHLHE40	chr12:49690367-49690696	K562	blood:	n/a	n/a
4	BHLHE40	chr12:49690956-49691542	K562	blood:	n/a	n/a
5	CBX3	chr12:49690377-49690710	K562	blood:	n/a	n/a
6	CBX3	chr12:49691076-49691487	K562	blood:	n/a	n/a
7	CCNT2	chr12:49690365-49691350	K562	blood:	n/a	n/a
8	CEBPB	chr12:49690248-49690554	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr12:49690974-49691253	Hela-S3	cervix:	n/a	n/a
10	CHD1	chr12:49690354-49690502	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr12:49690327-49690497	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr12:49691251-49691380	Hela-S3	cervix:	n/a	n/a
13	CREB1	chr12:49690266-49690698	A549	lung:	n/a	n/a
14	CREB1	chr12:49690747-49691192	A549	lung:	n/a	n/a
15	CTBP2	chr12:49686916-49687671	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr12:49690112-49691263	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr12:49690134-49690640	GM19238	blood:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
18	CTCF	chr12:49690380-49690530	HUVEC	blood vessel:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
19	CTCF	chr12:49690440-49690590	HPF	lung:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
20	CTCF	chr12:49690184-49690242	NHEK	skin:	n/a	n/a
21	CTCF	chr12:49691180-49691330	GM12869	blood:	n/a	n/a
22	CTCF	chr12:49690800-49690950	GM12866	blood:	n/a	n/a
23	CTCF	chr12:49691160-49691310	AG09319	gingival:	n/a	n/a
24	CTCF	chr12:49691240-49691390	MCF-7	breast:	n/a	n/a
25	CTCF	chr12:49690960-49691110	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr12:49690400-49690550	GM12872	blood:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
27	CTCF	chr12:49691140-49691290	HPF	lung:	n/a	n/a
28	CTCF	chr12:49689140-49689290	HAc	cerebellar:	n/a	n/a
29	CTCF	chr12:49691200-49691350	HEK293	kidney:	n/a	n/a
30	CTCF	chr12:49689840-49689990	GM12865	blood:	n/a	n/a
31	CTCF	chr12:49689520-49689670	RPTEC	kidney:	n/a	n/a
32	CTCF	chr12:49690380-49690530	HEEpiC	esophagus:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
33	CTCF	chr12:49690380-49690530	AoAF	blood vessel:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
34	CTCF	chr12:49690678-49690979	K562	blood:	n/a	n/a
35	CTCF	chr12:49689049-49689289	HepG2	liver:	n/a	n/a
36	CTCF	chr12:49690400-49690550	RPTEC	kidney:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
37	CTCF	chr12:49690400-49690550	HPAF	blood vessel:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
38	CTCF	chr12:49689120-49689270	HL-60	blood:	n/a	n/a
39	CTCF	chr12:49690420-49690570	GM12864	blood:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
40	CTCF	chr12:49690420-49690570	MCF-7	breast:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
41	CTCF	chr12:49691082-49691468	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr12:49690321-49690640	A549	lung:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
43	CTCF	chr12:49691217-49691406	MCF-7	breast:	n/a	n/a
44	CTCF	chr12:49690319-49690645	GM12878	blood:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
45	CTCF	chr12:49689080-49689230	SAEC	small airway:	n/a	n/a
46	CTCF	chr12:49690350-49690596	HUVEC	blood vessel:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
47	CTCF	chr12:49690720-49690855	GM10266	blood:	n/a	n/a
48	CTCF	chr12:49690442-49690504	Gliobla	brain:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
49	CTCF	chr12:49690380-49690530	AG04449	skin:	n/a	chr12:49690470-49690483 chr12:49690467-49690480 chr12:49690465-49690483 chr12:49690466-49690482 chr12:49690460-49690481 chr12:49690467-49690480
50	CTCF	chr12:49690668-49690870	GM19238	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49689463-49689513	PrEC	prostate:	n/a
2	chr12:49691064-49691114	HCPEpiC	choroid plexus:	n/a
3	chr12:49687715-49687765	LNCaP	prostate:	n/a
4	chr12:49688316-49688366	HCF	heart:	n/a
5	chr12:49689212-49689262	AG09319	gingival:	n/a
6	chr12:49688980-49689030	LNCaP	prostate:	n/a
7	chr12:49691064-49691114	GM06990	blood:	n/a
8	chr12:49689212-49689262	IMR90	lung:	fetal
9	chr12:49686619-49686669	Hela-S3	cervix:	n/a
10	chr12:49690636-49690686	HEK293	kidney:	embryo
11	chr12:49686619-49686669	IMR90	lung:	fetal
12	chr12:49689685-49689735	ovcar-3	ovarian:	n/a
13	chr12:49690636-49690686	HRPEpiC	eye:	n/a
14	chr12:49689463-49689513	HCM	heart:	n/a
15	chr12:49690862-49690912	HRCEpiC	kidney:	n/a
16	chr12:49688844-49688894	GM12878	blood:	n/a
17	chr12:49687715-49687765	NHBE	bronchial:	n/a
18	chr12:49691064-49691114	HCF	heart:	n/a
19	chr12:49688980-49689030	NB4	blood:	n/a
20	chr12:49687715-49687765	HRCEpiC	kidney:	n/a
21	chr12:49691316-49691366	GM12891	blood:	n/a
22	chr12:49686619-49686669	GM12878	blood:	n/a
23	chr12:49688176-49688226	LNCaP	prostate:	n/a
24	chr12:49690254-49690304	ovcar-3	ovarian:	n/a
25	chr12:49691316-49691366	T-47D	breast:	n/a
26	chr12:49689463-49689513	HCF	heart:	n/a
27	chr12:49688980-49689030	HEEpiC	esophagus:	n/a
28	chr12:49686619-49686669	MCF-7	breast:	n/a
29	chr12:49689463-49689513	ovcar-3	ovarian:	n/a
30	chr12:49687715-49687765	Jurkat	blood:	n/a
31	chr12:49689463-49689513	HCT-116	colon:	n/a
32	chr12:49688980-49689030	MCF10A-Er-Src	breast:	n/a
33	chr12:49688176-49688226	HRE	kidney:	n/a
34	chr12:49690636-49690686	RPTEC	kidney:	n/a
35	chr12:49687715-49687765	HEK293	kidney:	embryo
36	chr12:49691316-49691366	HCPEpiC	choroid plexus:	n/a
37	chr12:49689463-49689513	Hepatocyte	liver:	n/a
38	chr12:49686619-49686669	HepG2	liver:	n/a
39	chr12:49689212-49689262	SK-N-SH	brain:	n/a
40	chr12:49688176-49688226	H1-hESC	embryonic stem cell:	embryo
41	chr12:49688980-49689030	ovcar-3	ovarian:	n/a
42	chr12:49688844-49688894	HepG2	liver:	n/a
43	chr12:49690254-49690304	HL-60	blood:	n/a
44	chr12:49689212-49689262	NHDF-neo	bronchial:	n/a
45	chr12:49688316-49688366	GM12878	blood:	n/a
46	chr12:49686619-49686669	Caco-2	colon:	n/a
47	chr12:49689463-49689513	NB4	blood:	n/a
48	chr12:49688980-49689030	HNPCEpiC	eye:	n/a
49	chr12:49691316-49691366	NH-A	brain:	n/a
50	chr12:49688316-49688366	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49654800..49660850-chr12:49685742..49692441,19	MCF-7	breast:
2	chr12:49656956..49663896-chr12:49681239..49693031,16	K562	blood:
3	chr12:49667022..49671096-chr12:49685141..49687523,3	K562	blood:
4	chr12:49686386..49687917-chr12:49689353..49691051,2	MCF-7	breast:
5	chr12:49686580..49692358-chr12:49712251..49718367,13	MCF-7	breast:
6	chr12:49656941..49662685-chr12:49687034..49693573,13	MCF-7	breast:
7	chr12:49691260..49692031-chr12:49752077..49752849,2	MCF-7	breast:
8	chr12:49660927..49665723-chr12:49685096..49688729,4	MCF-7	breast:
9	chr12:49689988..49692308-chr12:49713640..49717456,5	K562	blood:
10	chr12:49657190..49661099-chr12:49688432..49694179,9	K562	blood:
11	chr12:49691489..49693674-chr12:49738441..49740198,2	MCF-7	breast:
12	chr12:49524142..49526154-chr12:49690463..49692891,2	MCF-7	breast:
13	chr12:49664091..49667882-chr12:49690109..49694759,4	K562	blood:
14	chr12:49691634..49692517-chr12:49725409..49726067,4	MCF-7	breast:
15	chr12:49689191..49691482-chr12:49728607..49731292,2	MCF-7	breast:
16	chr12:49685018..49687263-chr12:49715369..49717175,2	K562	blood:
17	chr12:49691373..49692810-chr12:49735826..49736936,11	MCF-7	breast:
18	chr12:49691342..49692923-chr12:49735601..49736627,8	MCF-7	breast:
19	chr12:49666275..49670972-chr12:49688443..49691988,7	K562	blood:
20	chr12:49687485..49689033-chr12:49958204..49960498,2	K562	blood:
21	chr12:49667022..49669779-chr12:49685141..49687257,2	K562	blood:
22	chr12:49686386..49687917-chr12:49689353..49691051,2	MCF-7	breast:
23	chr12:49684454..49687869-chr12:49714567..49717463,3	K562	blood:
24	chr12:49691061..49691606-chr12:49735920..49736671,2	K562	blood:
25	chr12:49665854..49668915-chr12:49685671..49689413,3	MCF-7	breast:
26	chr12:49656722..49663896-chr12:49682381..49687774,8	K562	blood:
27	chr12:49685493..49694205-chr12:49728829..49734805,16	K562	blood:
28	chr12:49680691..49694205-chr12:49725987..49738512,25	K562	blood:
29	chr12:49691633..49692545-chr12:49750700..49751496,2	MCF-7	breast:
30	chr12:49689044..49692243-chr12:49760659..49764012,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1QL4-1	chr12:49689043-49689072	NONHSAT028097
2	lnc-PRPH-1	chr12:49687507-49687780	NONHSAT028100
3	lnc-C1QL4-1	chr12:49686647-49687484	NONHSAT028095
4	lnc-PRPH-1	chr12:49687035-49687324	NONHSAT028100

Variant related genes	Relation type
PRPH	TF binding region
PRPH	CpG island
ENSG00000258232	chromatin interactions
ENSG00000187778	chromatin interactions
ENSG00000186897	chromatin interactions
ENSG00000135451	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000123352	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000258334	chromatin interactions
ENSG00000135406	chromatin interactions

Extended variants
information (count: 232 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117920118	chr12:49686546-49686547	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs542298892	chr12:49686596-49686597	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs577240723	chr12:49686669-49686670	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
4	rs538997591	chr12:49686722-49686723	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
5	rs558694499	chr12:49686727-49686728	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
6	rs142951298	chr12:49686781-49686782	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
7	rs150677346	chr12:49686814-49686815	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
8	rs561090258	chr12:49686851-49686852	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
9	rs574682698	chr12:49686869-49686870	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
10	rs140127972	chr12:49686893-49686894	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
11	rs560390210	chr12:49686915-49686916	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
12	rs532711683	chr12:49686950-49686951	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
13	rs552112776	chr12:49686961-49686962	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
14	rs375146887	chr12:49687121-49687122	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
15	rs561036936	chr12:49687156-49687157	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
16	rs562348645	chr12:49687169-49687170	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
17	rs369979383	chr12:49687182-49687183	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
18	rs372233018	chr12:49687207-49687208	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
19	rs117046582	chr12:49687221-49687222	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
20	rs568198735	chr12:49687248-49687249	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
21	rs533955991	chr12:49687302-49687303	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
22	rs576086171	chr12:49687324-49687325	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
23	rs570722680	chr12:49687328-49687329	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
24	rs539359952	chr12:49687351-49687352	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
25	rs558861965	chr12:49687362-49687363	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
26	rs182018538	chr12:49687369-49687370	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
27	rs7486836	chr12:49687378-49687379	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186230192	chr12:49687397-49687398	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
29	rs144058282	chr12:49687541-49687542	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
30	rs540398802	chr12:49687610-49687611	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
31	rs189818138	chr12:49687702-49687703	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
32	rs146448956	chr12:49687716-49687717	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
33	rs546177146	chr12:49687788-49687789	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs563236623	chr12:49687808-49687809	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs531194773	chr12:49687854-49687855	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs145434816	chr12:49687881-49687882	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs375293662	chr12:49687885-49687886	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs527400822	chr12:49687979-49687980	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs563040157	chr12:49687994-49687995	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs182846230	chr12:49688004-49688005	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs570556251	chr12:49688007-49688008	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs185523017	chr12:49688033-49688034	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs12580931	chr12:49688057-49688058	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs569967325	chr12:49688058-49688059	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs190677276	chr12:49688088-49688089	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs572358698	chr12:49688089-49688090	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs369698107	chr12:49688092-49688093	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs560804613	chr12:49688093-49688094	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs116995705	chr12:49688113-49688114	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs74089009	chr12:49688119-49688120	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49678200-49686800	Weak transcription	HSMM	muscle
2	chr12:49682200-49686800	Weak transcription	HSMMtube	muscle
3	chr12:49682800-49686800	Weak transcription	Hela-S3	cervix
4	chr12:49682800-49687000	Weak transcription	Right Atrium	heart
5	chr12:49683200-49686600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:49683200-49687000	Weak transcription	NHEK	skin
7	chr12:49683400-49686800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:49683400-49686800	Weak transcription	HMEC	breast
9	chr12:49685600-49686800	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr12:49686000-49687200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:49686200-49686600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:49686200-49686600	Bivalent Enhancer	Brain Germinal Matrix	brain
13	chr12:49686200-49686600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr12:49686200-49687000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
15	chr12:49686200-49687000	Enhancers	Stomach Mucosa	stomach
16	chr12:49686200-49687600	Enhancers	NHLF	lung
17	chr12:49686200-49687800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:49686200-49687800	Enhancers	K562	blood
19	chr12:49686400-49686600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
20	chr12:49686400-49687000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr12:49686400-49687000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr12:49686400-49687800	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:49686400-49688000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:49686400-49688800	Enhancers	A549	lung
25	chr12:49686600-49686800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:49686600-49686800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:49686600-49686800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr12:49686600-49686800	Bivalent Enhancer	Fetal Stomach	stomach
29	chr12:49686600-49687000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr12:49686600-49687000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:49686600-49687000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:49686600-49687000	Bivalent Enhancer	Fetal Lung	lung
33	chr12:49686600-49687000	Enhancers	Stomach Smooth Muscle	stomach
34	chr12:49686600-49687200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
35	chr12:49686600-49687200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:49686600-49687200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr12:49686600-49687200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:49686600-49687600	Enhancers	Gastric	stomach
39	chr12:49686600-49687800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr12:49686600-49688800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:49686600-49689800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr12:49686600-49692000	Bivalent Enhancer	Placenta	Placenta
43	chr12:49686800-49687000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:49686800-49687000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:49686800-49687000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:49686800-49687000	Enhancers	Colonic Mucosa	Colon
47	chr12:49686800-49687000	Enhancers	Esophagus	oesophagus
48	chr12:49686800-49687000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr12:49686800-49687200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:49686800-49687200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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