Variant report

Variant	rs4316722
Chromosome Location	chr15:78371893-78371894
allele	A/T
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	MAX	chr15:78371759-78371955	HepG2	liver:	n/a	n/a
2	MAFK	chr15:78371863-78372322	HepG2	liver:	n/a	chr15:78372189-78372205 chr15:78372193-78372204 chr15:78372127-78372142 chr15:78372192-78372206 chr15:78372189-78372204 chr15:78372194-78372205

Variant related genes	Relation type
TBC1D2B	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1053506	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10775214	0.94[GIH][hapmap]
rs10775215	1.00[ASN][1000 genomes]
rs11072725	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11072726	0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11633329	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11633569	1.00[ASN][1000 genomes]
rs11636889	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12595595	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12898535	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12900731	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12901492	1.00[ASN][1000 genomes]
rs12913206	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12915731	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12915847	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12916320	1.00[ASN][1000 genomes]
rs1348256	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs16969502	1.00[CEU][hapmap]
rs1837911	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1837912	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2015951	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2867984	1.00[ASN][1000 genomes]
rs28680277	1.00[ASN][1000 genomes]
rs3972617	1.00[ASN][1000 genomes]
rs4243072	1.00[ASN][1000 genomes]
rs4411474	1.00[ASN][1000 genomes]
rs4886551	1.00[ASN][1000 genomes]
rs4886552	1.00[ASN][1000 genomes]
rs4886556	1.00[ASN][1000 genomes]
rs4886985	1.00[ASN][1000 genomes]
rs4886986	1.00[ASN][1000 genomes]
rs4886987	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4886990	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886991	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4886993	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4886997	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4886998	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4887001	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4887002	1.00[ASN][1000 genomes]
rs4887003	1.00[ASW][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4887004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61732053	1.00[ASN][1000 genomes]
rs7163997	1.00[ASN][1000 genomes]
rs7169882	1.00[ASN][1000 genomes]
rs7170101	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7170286	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7170452	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7173128	0.83[ASW][hapmap]
rs7174640	1.00[CEU][hapmap]
rs7175192	1.00[ASN][1000 genomes]
rs7175235	1.00[ASN][1000 genomes]
rs7175975	1.00[ASN][1000 genomes]
rs7180684	1.00[JPT][hapmap]
rs8025423	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8033216	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs894295	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs894296	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs894302	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9788640	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9920180	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78370000-78372400	Weak transcription	Spleen	Spleen
2	chr15:78370400-78372200	Weak transcription	Ovary	ovary
3	chr15:78370400-78372200	Weak transcription	Pancreas	Pancrea
4	chr15:78370400-78373600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:78370400-78374000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:78370400-78374200	Weak transcription	Colonic Mucosa	Colon
7	chr15:78370400-78374800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:78370400-78374800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:78370400-78374800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:78370400-78375000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:78370400-78375000	Weak transcription	Gastric	stomach
12	chr15:78370400-78375000	Weak transcription	Lung	lung
13	chr15:78370400-78375000	Weak transcription	Small Intestine	intestine
14	chr15:78370400-78375600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:78370400-78376600	Weak transcription	Right Atrium	heart
16	chr15:78370400-78377000	Weak transcription	Esophagus	oesophagus
17	chr15:78370600-78374000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:78370600-78374000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr15:78370600-78374000	Weak transcription	Placenta	Placenta
20	chr15:78370600-78374000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr15:78370600-78374200	Weak transcription	Fetal Muscle Leg	muscle
22	chr15:78370600-78374600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:78370600-78374600	Weak transcription	Primary B cells from cord blood	blood
24	chr15:78370600-78374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:78370600-78374600	Weak transcription	Adipose Nuclei	Adipose
26	chr15:78370600-78374600	Weak transcription	Fetal Stomach	stomach
27	chr15:78370600-78374600	Weak transcription	NHDF-Ad	bronchial
28	chr15:78370600-78374600	Weak transcription	NHEK	skin
29	chr15:78370600-78374600	Weak transcription	NHLF	lung
30	chr15:78370600-78374800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr15:78370600-78374800	Weak transcription	Fetal Lung	lung
32	chr15:78370600-78375000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr15:78370600-78375200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:78370600-78376200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:78370600-78376200	Weak transcription	Fetal Brain Female	brain
36	chr15:78370600-78377800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:78370600-78377800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr15:78370600-78378000	Weak transcription	Osteobl	bone
39	chr15:78370800-78372000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr15:78370800-78372600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr15:78370800-78374200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr15:78370800-78374600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:78370800-78374600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:78370800-78374600	Weak transcription	Brain Anterior Caudate	brain
45	chr15:78370800-78374600	Weak transcription	Fetal Thymus	thymus
46	chr15:78370800-78374600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:78370800-78374600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr15:78370800-78374600	Weak transcription	GM12878-XiMat	blood
49	chr15:78370800-78375000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr15:78370800-78375600	Weak transcription	Fetal Brain Male	brain

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