Variant report

Variant	rs9651912
Chromosome Location	chr12:120557842-120557843
allele	A/G
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	RELA	chr12:120557219-120557925	GM19099	blood:	n/a	chr12:120557493-120557502 chr12:120557493-120557502
2	FOXA1	chr12:120557475-120557901	A549	lung:	n/a	n/a
3	MEF2A	chr12:120557131-120557935	GM12878	blood:	n/a	chr12:120557437-120557458
4	PML	chr12:120557137-120558019	GM12878	blood:	n/a	n/a
5	WRNIP1	chr12:120557396-120557891	GM12878	blood:	n/a	n/a
6	RCOR1	chr12:120557151-120558038	IMR90	lung:	n/a	n/a
7	STAT3	chr12:120557223-120557876	GM12878	blood:	n/a	chr12:120557283-120557294
8	CEBPB	chr12:120557549-120557921	IMR90	lung:	n/a	n/a
9	NR3C1	chr12:120557343-120557912	A549	lung:	n/a	n/a
10	NFATC1	chr12:120557118-120557891	GM12878	blood:	n/a	n/a
11	RELA	chr12:120557210-120557944	GM18505	blood:	n/a	chr12:120557493-120557502 chr12:120557493-120557502
12	FOXM1	chr12:120557072-120557935	GM12878	blood:	n/a	n/a
13	NFIC	chr12:120557024-120558031	GM12878	blood:	n/a	n/a
14	MTA3	chr12:120555921-120558066	GM12878	blood:	n/a	n/a
15	EP300	chr12:120557257-120558025	A549	lung:	n/a	n/a
16	FOSL2	chr12:120557164-120557943	A549	lung:	n/a	chr12:120557529-120557541
17	RELA	chr12:120557257-120557878	GM12891	blood:	n/a	chr12:120557493-120557502 chr12:120557493-120557502
18	RELA	chr12:120557222-120557848	GM10847	blood:	n/a	chr12:120557493-120557502 chr12:120557493-120557502
19	POLR2A	chr12:120557282-120557861	GM12878	blood:	n/a	n/a
20	RELA	chr12:120557232-120557928	GM19193	blood:	n/a	chr12:120557493-120557502 chr12:120557493-120557502
21	FOXA1	chr12:120557392-120557849	A549	lung:	n/a	n/a
22	RELA	chr12:120557251-120557904	GM18951	blood:	n/a	chr12:120557493-120557502 chr12:120557493-120557502
23	STAT5A	chr12:120557228-120557860	GM12878	blood:	n/a	chr12:120557283-120557294
24	TBL1XR1	chr12:120557191-120557883	GM12878	blood:	n/a	n/a
25	NR3C1	chr12:120557294-120557866	A549	lung:	n/a	n/a
26	MTA3	chr12:120557114-120558011	GM12878	blood:	n/a	n/a
27	FOXA1	chr12:120557398-120557847	HepG2	liver:	n/a	n/a
28	NFATC1	chr12:120557125-120557958	GM12878	blood:	n/a	n/a
29	TCF3	chr12:120557497-120557843	GM12878	blood:	n/a	n/a
30	ATF2	chr12:120557029-120557951	GM12878	blood:	n/a	n/a
31	POLR2A	chr12:120557255-120557964	GM12878	blood:	n/a	n/a
32	EP300	chr12:120557155-120557887	GM12878	blood:	n/a	n/a
33	BCLAF1	chr12:120556961-120557983	GM12878	blood:	n/a	chr12:120557493-120557502
34	BCL3	chr12:120557055-120558099	A549	lung:	n/a	chr12:120557493-120557502
35	POLR2A	chr12:120557693-120557885	HepG2	liver:	n/a	n/a
36	RELA	chr12:120557292-120557874	GM12892	blood:	n/a	chr12:120557493-120557502 chr12:120557493-120557502
37	EBF1	chr12:120557187-120557842	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:120557218-120557890	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120552488..120558210-chr12:120630092..120634088,8	MCF-7	breast:
2	chr12:120548888..120559202-chr12:120724492..120734002,35	MCF-7	breast:
3	chr12:120553957..120557976-chr12:120571615..120578270,6	MCF-7	breast:
4	chr12:120557473..120561505-chr12:120727845..120730458,3	MCF-7	breast:
5	chr12:120556435..120559071-chr12:120718655..120721387,2	MCF-7	breast:
6	chr12:120552903..120558662-chr12:120635855..120639972,12	MCF-7	breast:
7	chr12:120551112..120557922-chr12:120727181..120731830,12	K562	blood:
8	chr12:120557739..120560108-chr12:120591877..120594744,2	K562	blood:

Variant related genes	Relation type
RAB35	TF binding region
ENSG00000255857	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000266704	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10161261	0.85[CEU][hapmap]
rs1054631	0.89[EUR][1000 genomes]
rs1057686	0.89[ASW][hapmap]
rs10849733	0.85[CEU][hapmap]
rs11065019	0.85[CEU][hapmap]
rs11065024	0.85[CEU][hapmap]
rs12313412	0.85[CEU][hapmap]
rs60223336	0.98[EUR][1000 genomes]
rs7139151	0.85[CEU][hapmap];0.84[TSI][hapmap];0.96[EUR][1000 genomes]
rs7294975	0.82[CEU][hapmap];0.96[EUR][1000 genomes]
rs73410873	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7957793	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120555800-120558000	Enhancers	Primary B cells from cord blood	blood
2	chr12:120555800-120558400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:120555800-120562200	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:120555800-120563800	Weak transcription	Aorta	Aorta
5	chr12:120556000-120558000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:120556000-120560000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr12:120556000-120562200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:120556200-120558000	Enhancers	Spleen	Spleen
9	chr12:120556200-120560000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:120556200-120560800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:120556200-120562400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:120556200-120562400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:120556400-120558000	Enhancers	Placenta	Placenta
14	chr12:120556400-120558000	Flanking Active TSS	A549	lung
15	chr12:120556400-120558600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:120556400-120559600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:120556400-120561800	Weak transcription	Fetal Kidney	kidney
18	chr12:120556400-120563800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:120556600-120558000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:120556600-120558000	Enhancers	HSMMtube	muscle
21	chr12:120556600-120558400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:120556600-120558600	Enhancers	NHLF	lung
23	chr12:120556600-120558800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:120556600-120559000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:120556600-120559200	Weak transcription	Colonic Mucosa	Colon
26	chr12:120556600-120559600	Enhancers	HepG2	liver
27	chr12:120556600-120560600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:120556600-120561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:120556600-120561400	Weak transcription	Esophagus	oesophagus
30	chr12:120556600-120561400	Weak transcription	Thymus	Thymus
31	chr12:120556600-120563000	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:120556600-120563000	Weak transcription	Gastric	stomach
33	chr12:120556600-120563600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:120556600-120563600	Weak transcription	Brain Anterior Caudate	brain
35	chr12:120556600-120563600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:120556600-120564000	Weak transcription	Lung	lung
37	chr12:120556800-120558000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:120556800-120558000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:120556800-120558000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:120556800-120558000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:120556800-120558000	Enhancers	Duodenum Mucosa	Duodenum
42	chr12:120556800-120558000	Enhancers	Fetal Brain Female	brain
43	chr12:120556800-120558000	Enhancers	Hela-S3	cervix
44	chr12:120556800-120558000	Enhancers	NH-A	brain
45	chr12:120556800-120558000	Enhancers	Osteobl	bone
46	chr12:120556800-120559200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:120556800-120559400	Enhancers	NHDF-Ad	bronchial
48	chr12:120556800-120561400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:120556800-120561400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:120556800-120562400	Enhancers	Primary T helper cells PMA-I stimulated	--

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