Variant report

Variant	rs4767492
Chromosome Location	chr12:117436861-117436862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117427238..117428899-chr12:117435662..117438288,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10161456	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11068257	0.92[YRI][hapmap]
rs12313623	0.91[YRI][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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4767492	HRK	cis	parietal	SCAN
rs4767492	TESC	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:117387800-117463600	Weak transcription	HMEC	breast
3	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
4	chr12:117397000-117442400	Weak transcription	Colonic Mucosa	Colon
5	chr12:117404600-117442400	Weak transcription	HepG2	liver
6	chr12:117405600-117442400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:117408200-117442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
9	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:117412200-117440000	Weak transcription	Esophagus	oesophagus
11	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
12	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
13	chr12:117418400-117441800	Weak transcription	K562	blood
14	chr12:117418400-117442400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:117418400-117444600	Weak transcription	HUVEC	blood vessel
16	chr12:117421200-117438000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:117421200-117438000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:117421200-117438200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:117421600-117438000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:117425400-117441800	Weak transcription	Gastric	stomach
21	chr12:117425800-117439400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:117426600-117439600	Weak transcription	Fetal Brain Male	brain
24	chr12:117426800-117445600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:117427000-117439800	Weak transcription	NHLF	lung
26	chr12:117427200-117438000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:117427200-117442400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:117427200-117442800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:117427800-117443400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:117428000-117442400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:117428000-117442400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:117428000-117442400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:117428200-117439800	Weak transcription	Fetal Brain Female	brain
34	chr12:117428200-117440000	Weak transcription	Pancreas	Pancrea
35	chr12:117428200-117440400	Weak transcription	Fetal Lung	lung
36	chr12:117428200-117442200	Weak transcription	A549	lung
37	chr12:117428200-117442400	Weak transcription	Fetal Kidney	kidney
38	chr12:117428200-117442400	Weak transcription	Fetal Thymus	thymus
39	chr12:117428200-117447600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:117428600-117442400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:117428600-117442800	Weak transcription	NHDF-Ad	bronchial
42	chr12:117428800-117442400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:117429400-117437200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:117429400-117438200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:117429400-117438200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:117429400-117441800	Weak transcription	Ovary	ovary
47	chr12:117429400-117442600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:117429600-117441000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:117429600-117441600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:117429600-117441800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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