Variant report

Variant	rs371980904
Chromosome Location	chr12:10588484-10588485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr12:10588448-10588737	Hela-S3	cervix:	n/a	n/a
2	YY1	chr12:10588450-10588641	HCT-116	colon:	n/a	n/a
3	SP1	chr12:10588247-10588758	A549	lung:	n/a	n/a
4	TCF12	chr12:10588446-10588654	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:10588190-10588801	Hela-S3	cervix:	n/a	n/a
6	FOXA2	chr12:10588420-10588857	A549	lung:	n/a	chr12:10588708-10588720
7	GATA2	chr12:10588334-10588559	HUVEC	blood vessel:	n/a	n/a
8	FOXA2	chr12:10588305-10588949	A549	lung:	n/a	chr12:10588708-10588720
9	TCF12	chr12:10588327-10588848	A549	lung:	n/a	n/a
10	TEAD4	chr12:10588425-10588658	K562	blood:	n/a	n/a
11	POLR2A	chr12:10588415-10588628	HUVEC	blood vessel:	n/a	n/a
12	GATA2	chr12:10588476-10588801	K562	blood:	n/a	n/a
13	POLR2A	chr12:10588352-10588726	HUVEC	blood vessel:	n/a	n/a
14	MAFK	chr12:10588352-10588723	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr12:10588355-10588714	Hela-S3	cervix:	n/a	n/a
16	KAP1	chr12:10588363-10588756	U2OS	brain:	n/a	n/a
17	POLR2A	chr12:10588365-10588718	HCT-116	colon:	n/a	n/a
18	KAP1	chr12:10588417-10588727	HEK293	kidney:	n/a	n/a
19	RFX5	chr12:10588430-10588756	Hela-S3	cervix:	n/a	n/a
20	TAF1	chr12:10588384-10588763	Hela-S3	cervix:	n/a	n/a
21	TAF1	chr12:10588457-10588714	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr12:10588304-10588732	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr12:10588381-10588756	Hela-S3	cervix:	n/a	n/a
24	TBP	chr12:10588089-10588760	Hela-S3	cervix:	n/a	n/a
25	FOS	chr12:10588344-10588742	HUVEC	blood vessel:	n/a	n/a
26	TCF7L2	chr12:10588332-10588774	HCT-116	colon:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10588483-10588533	ProgFib	skin:	n/a
2	chr12:10588483-10588533	K562	blood:	n/a
3	chr12:10588483-10588533	AoSMC	blood vessel:	n/a
4	chr12:10588483-10588533	HEK293	kidney:	embryo
5	chr12:10588483-10588533	NT2-D1	testis:	n/a
6	chr12:10588483-10588533	AG09319	gingival:	n/a
7	chr12:10588483-10588533	HCM	heart:	n/a
8	chr12:10588483-10588533	MCF-7	breast:	n/a
9	chr12:10588483-10588533	NB4	blood:	n/a
10	chr12:10588483-10588533	CMK	blood:	n/a
11	chr12:10588483-10588533	GM06990	blood:	n/a
12	chr12:10588483-10588533	GM12891	blood:	n/a
13	chr12:10588483-10588533	NHDF-neo	bronchial:	n/a
14	chr12:10588483-10588533	SK-N-SH	brain:	n/a
15	chr12:10588483-10588533	Hepatocyte	liver:	n/a
16	chr12:10588483-10588533	AG10803	skin:	n/a
17	chr12:10588483-10588533	A549	lung:	n/a
18	chr12:10588483-10588533	HRPEpiC	eye:	n/a
19	chr12:10588483-10588533	NH-A	brain:	n/a
20	chr12:10588483-10588533	SK-N-MC	brain:	n/a
21	chr12:10588483-10588533	AG04449	skin:	fetal
22	chr12:10588483-10588533	SKMC	muscle:	n/a
23	chr12:10588483-10588533	HepG2	liver:	n/a
24	chr12:10588483-10588533	SAEC	small airway:	n/a
25	chr12:10588483-10588533	HPAEpiC	pulmonary alveolar:	n/a
26	chr12:10588483-10588533	LNCaP	prostate:	n/a
27	chr12:10588483-10588533	ovcar-3	ovarian:	n/a
28	chr12:10588483-10588533	HAEpiC	amniotic membrane:	n/a
29	chr12:10588483-10588533	RPTEC	kidney:	n/a
30	chr12:10588483-10588533	Caco-2	colon:	n/a
31	chr12:10588483-10588533	BE2_C	brain:	n/a
32	chr12:10588483-10588533	Jurkat	blood:	n/a
33	chr12:10588483-10588533	PFSK-1	brain:	n/a
34	chr12:10588483-10588533	U87	brain:	n/a
35	chr12:10588483-10588533	HNPCEpiC	eye:	n/a
36	chr12:10588483-10588533	BJ	skin:	n/a
37	chr12:10588483-10588533	HCPEpiC	choroid plexus:	n/a
38	chr12:10588483-10588533	NHBE	bronchial:	n/a
39	chr12:10588483-10588533	HRE	kidney:	n/a
40	chr12:10588483-10588533	HRCEpiC	kidney:	n/a
41	chr12:10588483-10588533	Hela-S3	cervix:	n/a
42	chr12:10588483-10588533	SK-N-SH_RA	brain:	n/a
43	chr12:10588483-10588533	PrEC	prostate:	n/a
44	chr12:10588483-10588533	HEEpiC	esophagus:	n/a
45	chr12:10588483-10588533	ECC-1	luminal epithelium:	n/a
46	chr12:10588483-10588533	HIPEpiC	eye:	n/a
47	chr12:10588483-10588533	AG04450	lung:	fetal
48	chr12:10588483-10588533	PANC-1	pancreas:	n/a
49	chr12:10588483-10588533	HMEC	breast:	n/a
50	chr12:10588483-10588533	HUVEC	blood vessel:	n/a

No data

Variant related genes	Relation type
KLRC2	TF binding region
KLRC2	CpG island

Extended variants
information (count: 78 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1036390	chr12:10496724-10596720	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898763	chr12:10514528-10603670	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv8914	chr12:10532300-10662676	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv557456	chr12:10532326-10698255	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv898764	chr12:10537269-10698255	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv898765	chr12:10537269-10701992	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv898766	chr12:10537269-10722585	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv557457	chr12:10545925-10698255	Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv557458	chr12:10546140-10698255	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1051292	chr12:10547900-10596720	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv1809664	chr12:10551852-10598784	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv606	chr12:10552632-10612899	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv898767	chr12:10553930-10622047	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv983434	chr12:10559010-10600415	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv557459	chr12:10560591-10729821	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
18	nsv521062	chr12:10560957-10604945	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	esv3503718	chr12:10562526-10589131	Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
20	esv3503730	chr12:10562526-10589131	Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
21	esv4003	chr12:10562591-10589105	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
22	esv1813897	chr12:10563876-10602124	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
23	nsv898768	chr12:10565453-10597207	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	nsv898769	chr12:10565453-10600368	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv869972	chr12:10565955-10602717	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
26	nsv870117	chr12:10565955-10648821	Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	esv12565	chr12:10566089-10603748	Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	esv1796748	chr12:10567764-10594710	Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
29	nsv898770	chr12:10568047-10597207	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	nsv898771	chr12:10568047-10600368	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
31	esv1791849	chr12:10568076-10601467	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	nsv557460	chr12:10568637-10596617	Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	nsv557461	chr12:10568637-10598784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
34	nsv557462	chr12:10568637-10598984	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
35	esv1797836	chr12:10569211-10602097	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
36	esv3434028	chr12:10569921-10600913	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
37	nsv557463	chr12:10570171-10596617	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
38	nsv557464	chr12:10570171-10601690	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
39	esv3499005	chr12:10570735-10601233	Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
40	esv3499006	chr12:10570735-10601233	Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
41	esv1798565	chr12:10570744-10602297	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
42	esv1801534	chr12:10570944-10596286	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
43	esv1810215	chr12:10570979-10596486	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
44	esv1813968	chr12:10570979-10596486	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
45	nsv557466	chr12:10571622-10596617	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
46	nsv557467	chr12:10571622-10598784	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
47	esv1795519	chr12:10571707-10596486	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
48	esv1805234	chr12:10571907-10596286	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
49	esv1814702	chr12:10571907-10596286	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
50	nsv826240	chr12:10572749-10599084	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10585800-10589000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:10588000-10588600	Active TSS	Fetal Thymus	thymus
3	chr12:10588000-10588800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:10588000-10588800	Active TSS	Brain Anterior Caudate	brain
5	chr12:10588000-10588800	Active TSS	Hela-S3	cervix
6	chr12:10588200-10588800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:10588200-10588800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:10588200-10589000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:10588200-10589000	Enhancers	A549	lung
10	chr12:10588200-10589000	Enhancers	HUVEC	blood vessel
11	chr12:10588400-10588800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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