Variant report

Variant	rs11172102
Chromosome Location	chr12:57496662-57496663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:103)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:103 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:57495708-57496737	K562	blood:	n/a	chr12:57495810-57495819
2	CTCF	chr12:57496580-57496730	HPF	lung:	n/a	n/a
3	ZNF384	chr12:57496208-57496966	K562	blood:	n/a	n/a
4	CTCF	chr12:57496580-57496730	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:57495930-57496686	K562	blood:	n/a	n/a
6	CTCF	chr12:57496580-57496730	HRPEpiC	eye:	n/a	n/a
7	STAT5A	chr12:57496175-57496677	K562	blood:	n/a	chr12:57496569-57496581
8	POLR2A	chr12:57496209-57496851	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr12:57495678-57496720	HepG2	liver:	n/a	n/a
10	MYBL2	chr12:57495478-57496798	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:57495966-57496702	HepG2	liver:	n/a	n/a
12	EP300	chr12:57495624-57496755	HepG2	liver:	n/a	chr12:57495810-57495819
13	ZMIZ1	chr12:57496288-57496704	K562	blood:	n/a	n/a
14	CTCF	chr12:57496654-57496696	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr12:57495554-57496819	GM12878	blood:	n/a	n/a
16	CTCF	chr12:57496601-57496716	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr12:57495936-57496721	K562	blood:	n/a	n/a
18	CTCF	chr12:57496560-57496710	AG04450	lung:	n/a	n/a
19	CTCF	chr12:57496620-57496770	RPTEC	kidney:	n/a	n/a
20	CTCF	chr12:57496580-57496730	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr12:57496600-57496750	NHDF-neo	bronchial:	n/a	n/a
22	RAD21	chr12:57496544-57496745	HepG2	liver:	n/a	n/a
23	CTCF	chr12:57496430-57496882	K562	blood:	n/a	n/a
24	POLR2A	chr12:57495885-57496700	GM12891	blood:	n/a	n/a
25	CTCF	chr12:57496593-57496727	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr12:57496660-57496810	HBMEC	blood vessel:	n/a	n/a
27	POLR2A	chr12:57495719-57496755	HepG2	liver:	n/a	n/a
28	POLR2A	chr12:57496316-57496722	GM12891	blood:	n/a	n/a
29	CTCF	chr12:57496620-57496770	HCT-116	colon:	n/a	n/a
30	CTCF	chr12:57496520-57496670	HFF	foreskin:	n/a	n/a
31	CTCF	chr12:57496580-57496730	AG04449	skin:	n/a	n/a
32	CTCF	chr12:57496580-57496730	HCFaa	heart:	n/a	n/a
33	ZNF143	chr12:57496611-57496768	K562	blood:	n/a	n/a
34	RFX5	chr12:57495772-57496734	HepG2	liver:	n/a	n/a
35	CTCF	chr12:57496560-57496710	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr12:57496580-57496730	AG09309	skin:	n/a	n/a
37	CTCF	chr12:57496580-57496730	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:57496560-57496710	K562	blood:	n/a	n/a
39	CTCF	chr12:57496648-57496682	MCF-7	breast:	n/a	n/a
40	CTCF	chr12:57496628-57496688	MCF-7	breast:	n/a	n/a
41	POLR2A	chr12:57495481-57496932	HepG2	liver:	n/a	n/a
42	CTCF	chr12:57496600-57496750	A549	lung:	n/a	n/a
43	CTCF	chr12:57496580-57496730	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr12:57496580-57496730	HEK293	kidney:	n/a	n/a
45	CTCF	chr12:57496560-57496710	HMEC	breast:	n/a	n/a
46	POLR2A	chr12:57496029-57496854	MCF10A-Er-Src	breast:	n/a	n/a
47	MAX	chr12:57496032-57496721	K562	blood:	n/a	n/a
48	CTCF	chr12:57496627-57496694	MCF-7	breast:	n/a	n/a
49	CTCF	chr12:57496511-57496839	K562	blood:	n/a	n/a
50	CTCF	chr12:57496580-57496730	HUVEC	blood vessel:	n/a	n/a

No data

Variant related genes	Relation type
STAT6	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11612037	1.00[LWK][hapmap]
rs387999	1.00[LWK][hapmap]
rs4760212	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57484000-57498200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:57486200-57503600	Weak transcription	Fetal Brain Male	brain
3	chr12:57486600-57503800	Weak transcription	Brain Substantia Nigra	brain
4	chr12:57487600-57501400	Weak transcription	Right Atrium	heart
5	chr12:57487600-57503600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:57488800-57501400	Strong transcription	Adipose Nuclei	Adipose
7	chr12:57488800-57502400	Strong transcription	Fetal Stomach	stomach
8	chr12:57489000-57503600	Weak transcription	Brain Angular Gyrus	brain
9	chr12:57489400-57501400	Strong transcription	Lung	lung
10	chr12:57489400-57501600	Strong transcription	Ovary	ovary
11	chr12:57489600-57500200	Weak transcription	Fetal Kidney	kidney
12	chr12:57490000-57497600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:57490000-57497800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:57490000-57503800	Weak transcription	NH-A	brain
15	chr12:57490000-57504000	Weak transcription	Brain Germinal Matrix	brain
16	chr12:57490400-57503400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:57491000-57496800	Strong transcription	HMEC	breast
18	chr12:57491000-57497600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:57491000-57497800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:57491000-57498000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:57491000-57501400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:57492600-57500400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:57492800-57499600	Weak transcription	Fetal Heart	heart
24	chr12:57493000-57503200	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:57493000-57503400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:57493200-57497600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:57493200-57501400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:57493200-57501400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:57493200-57501600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:57493400-57498000	Weak transcription	Brain Anterior Caudate	brain
31	chr12:57493400-57503200	Weak transcription	HUVEC	blood vessel
32	chr12:57493600-57497800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:57493600-57498400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:57493800-57496800	Genic enhancers	Fetal Intestine Small	intestine
35	chr12:57493800-57496800	Genic enhancers	Rectal Mucosa Donor 31	rectum
36	chr12:57493800-57497800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:57493800-57497800	Weak transcription	NHEK	skin
38	chr12:57493800-57498000	Weak transcription	HSMMtube	muscle
39	chr12:57494000-57497400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:57494000-57497800	Weak transcription	Small Intestine	intestine
41	chr12:57494000-57498000	Weak transcription	Left Ventricle	heart
42	chr12:57494000-57502600	Strong transcription	Placenta	Placenta
43	chr12:57494000-57504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:57494200-57497600	Weak transcription	HSMM	muscle
45	chr12:57494200-57497800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:57494200-57497800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:57494400-57497800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:57495600-57496800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr12:57495600-57497000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:57495600-57497200	Genic enhancers	Primary T cells fromperipheralblood	blood

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