Variant report

Variant	rs11064514
Chromosome Location	chr12:859837-859838
allele	A/C
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	POLR2A	chr12:859741-859914	K562	blood:	n/a	n/a
2	EP300	chr12:859667-859885	GM12878	blood:	n/a	chr12:859760-859770
3	KAP1	chr12:859752-861309	HEK293	kidney:	n/a	n/a
4	RFX5	chr12:859693-861973	Hela-S3	cervix:	n/a	chr12:861282-861296 chr12:861284-861293
5	MAZ	chr12:859819-864631	IMR90	lung:	n/a	chr12:862215-862225 chr12:861352-861362 chr12:861341-861351 chr12:861704-861714
6	STAT3	chr12:859394-859951	MCF10A-Er-Src	breast:	n/a	chr12:859592-859600
7	POLR2A	chr12:859451-863515	Hela-S3	cervix:	n/a	n/a
8	STAT3	chr12:859836-860017	MCF10A-Er-Src	breast:	n/a	n/a
9	EBF1	chr12:859554-859890	GM12878	blood:	n/a	n/a
10	GATA3	chr12:859664-859850	SH-SY5Y	brain:	n/a	n/a
11	POLR2A	chr12:858746-862577	GM12891	blood:	n/a	n/a
12	POLR2A	chr12:859034-862707	GM19099	blood:	n/a	n/a
13	TBP	chr12:859678-861968	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr12:859373-863576	GM12892	blood:	n/a	n/a
15	POLR2A	chr12:859629-864495	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:859698-862461	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr12:859229-860899	MCF10A-Er-Src	breast:	n/a	n/a
18	CEBPB	chr12:859575-860763	Hela-S3	cervix:	n/a	n/a
19	EP300	chr12:859779-860981	GM12878	blood:	n/a	chr12:860262-860276
20	POLR2A	chr12:859597-863628	GM18951	blood:	n/a	n/a
21	POLR2A	chr12:859337-862187	GM12878	blood:	n/a	n/a
22	MAFF	chr12:859732-860412	K562	blood:	n/a	chr12:860146-860160
23	TBP	chr12:858742-861975	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:859066-864608	PBDE	blood:	n/a	n/a
25	POLR2A	chr12:858942-864514	GM12878	blood:	n/a	n/a
26	CUX1	chr12:859791-861278	K562	blood:	n/a	chr12:861108-861117
27	MXI1	chr12:858729-864683	GM12878	blood:	n/a	n/a
28	CHD1	chr12:858507-863628	GM12878	blood:	n/a	chr12:862029-862039
29	POLR2A	chr12:859483-863804	GM18505	blood:	n/a	n/a
30	HCFC1	chr12:859727-864857	Hela-S3	cervix:	n/a	n/a
31	FOXA1	chr12:859457-859910	HepG2	liver:	n/a	chr12:859759-859774
32	MYC	chr12:859743-862644	K562	blood:	n/a	chr12:862215-862225 chr12:861352-861362 chr12:861341-861351 chr12:861704-861714

No.	Distal block	Cell Line	Cell type
1	chr12:857339..858842-chr12:859156..860743,2	MCF-7	breast:
2	chr12:749128..755954-chr12:858463..864495,7	MCF-7	breast:
3	chr12:858790..861699-chr12:870992..873821,2	K562	blood:
4	chr12:684050..686927-chr12:859603..861672,3	K562	blood:
5	chr12:728784..730437-chr12:859052..860825,2	MCF-7	breast:
6	chr12:825603..828799-chr12:857363..861650,3	K562	blood:
7	chr12:749727..757562-chr12:858273..868886,17	MCF-7	breast:
8	chr12:858968..861238-chr12:1057237..1058981,2	K562	blood:

Variant related genes	Relation type
WNK1	TF binding region
ENSG00000177406	Chromatin interaction
ENSG00000002016	Chromatin interaction
ENSG00000171840	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11064512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11571370	1.00[AFR][1000 genomes]
rs56158393	1.00[AFR][1000 genomes]
rs72647386	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72650741	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541305	chr12:282465-1016828	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1044433	chr12:321619-1065402	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv541323	chr12:321619-1065402	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	esv2759875	chr12:335010-990544	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
8	nsv1045638	chr12:349031-893536	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
9	nsv541325	chr12:349031-893536	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
10	nsv949469	chr12:380411-1122450	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
11	esv2758290	chr12:457433-990544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS 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	45 gene(s)	inside rSNPs	diseases
12	nsv898567	chr12:547683-863517	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	nsv898568	chr12:547683-969800	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
14	nsv556887	chr12:632240-867504	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
15	nsv556890	chr12:662448-1100555	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
16	nsv556892	chr12:673515-1210884	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
17	nsv1051590	chr12:722215-974773	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv541338	chr12:722215-974773	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	nsv468956	chr12:737230-982321	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
20	nsv556893	chr12:737230-982321	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	esv2757485	chr12:786238-964551	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv1046707	chr12:792110-910520	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
24	esv2754685	chr12:835074-936468	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
25	esv2753750	chr12:835074-939480	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
26	esv2753658	chr12:835074-964506	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
27	esv3693103	chr12:837113-971317	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
28	nsv1052402	chr12:848728-874017	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
29	esv1838887	chr12:850288-873533	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
30	nsv556898	chr12:850288-968489	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
31	nsv468959	chr12:850613-922408	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
32	nsv556899	chr12:850613-922408	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
33	nsv1048535	chr12:850878-874017	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
34	nsv518946	chr12:854331-961336	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
35	nsv556900	chr12:854331-968489	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
36	nsv1047237	chr12:855853-874017	Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
37	esv2760688	chr12:855865-876246	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:858600-860000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:858800-860000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:858800-860000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:858800-861200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:859000-860000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:859000-860000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:859000-860000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:859000-860000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:859000-860000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:859000-860000	Enhancers	Duodenum Mucosa	Duodenum
11	chr12:859000-860000	Enhancers	Fetal Lung	lung
12	chr12:859000-860000	Enhancers	HSMM	muscle
13	chr12:859000-860000	Enhancers	HUVEC	blood vessel
14	chr12:859000-860200	Flanking Active TSS	Dnd41	blood
15	chr12:859200-860200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:859200-860200	Flanking Active TSS	Hela-S3	cervix
17	chr12:859200-860800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:859200-861400	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr12:859200-865000	Active TSS	Brain Substantia Nigra	brain
20	chr12:859200-866400	Active TSS	K562	blood
21	chr12:859400-860000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:859400-860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:859400-860000	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr12:859400-860200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr12:859400-860600	Active TSS	Brain Angular Gyrus	brain
26	chr12:859400-860600	Weak transcription	Stomach Mucosa	stomach
27	chr12:859400-860800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:859400-865000	Active TSS	GM12878-XiMat	blood
29	chr12:859600-860000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:859600-860000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:859600-860000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:859600-860000	Enhancers	Primary B cells from peripheral blood	blood
33	chr12:859600-860000	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr12:859600-860000	Enhancers	Fetal Intestine Large	intestine
35	chr12:859600-860000	Enhancers	Fetal Intestine Small	intestine
36	chr12:859600-860000	Enhancers	Fetal Muscle Leg	muscle
37	chr12:859600-860000	Enhancers	Fetal Stomach	stomach
38	chr12:859600-860000	Flanking Active TSS	HMEC	breast
39	chr12:859600-860000	Flanking Active TSS	NHDF-Ad	bronchial
40	chr12:859600-860200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:859600-860200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:859600-860200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr12:859600-860200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr12:859600-860200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr12:859600-860200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr12:859600-860400	Flanking Active TSS	HepG2	liver
47	chr12:859600-860800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:859600-861000	Weak transcription	Small Intestine	intestine
49	chr12:859600-861200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr12:859600-861200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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