Variant report

Variant	rs7023290
Chromosome Location	chr9:15444907-15444908
allele	C/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	POLR2A	chr9:15444878-15445138	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SNAPC3	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10081655	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10115540	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10481556	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10733292	0.84[ASN][1000 genomes]
rs10738392	0.88[EUR][1000 genomes]
rs10738397	0.84[ASN][1000 genomes]
rs10756663	0.85[EUR][1000 genomes]
rs10756664	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10756665	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10756666	0.82[ASN][1000 genomes]
rs10756667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10756668	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10756669	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1123038	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1397215	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1976599	0.93[EUR][1000 genomes]
rs1983207	0.86[EUR][1000 genomes]
rs2136710	0.93[EUR][1000 genomes]
rs2175258	0.93[EUR][1000 genomes]
rs2382529	0.83[EUR][1000 genomes]
rs2382530	0.86[ASN][1000 genomes]
rs2737829	0.89[EUR][1000 genomes]
rs2737831	0.87[EUR][1000 genomes]
rs2737835	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2737837	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2737842	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4510952	0.82[ASN][1000 genomes]
rs4741498	0.83[EUR][1000 genomes]
rs4741500	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4741501	0.82[ASN][1000 genomes]
rs4741502	0.81[ASN][1000 genomes]
rs4741503	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4741504	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4741505	0.83[ASN][1000 genomes]
rs4741506	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6474918	0.93[EUR][1000 genomes]
rs6474923	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7026910	0.82[ASN][1000 genomes]
rs7026970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7034447	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7040353	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7042165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7046713	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7470309	0.95[ASN][1000 genomes]
rs7470323	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7857850	0.91[ASN][1000 genomes]
rs907075	0.85[ASN][1000 genomes]
rs907076	0.83[ASN][1000 genomes]
rs9650683	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517975	chr9:15286446-15534070	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1030287	chr9:15332709-15458001	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv892626	chr9:15389610-15694690	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv892627	chr9:15397969-15909450	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv892628	chr9:15420805-15528290	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15426400-15468200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:15431400-15445800	Weak transcription	Right Ventricle	heart
3	chr9:15431400-15446000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:15431400-15447800	Weak transcription	Psoas Muscle	Psoas
5	chr9:15433400-15492400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:15434000-15464000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:15438000-15446400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr9:15438400-15447800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:15438400-15469800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr9:15438800-15468800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:15439000-15492200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr9:15439400-15447600	Weak transcription	Small Intestine	intestine
13	chr9:15441600-15449400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:15441800-15449000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:15441800-15449800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:15441800-15449800	Strong transcription	Lung	lung
17	chr9:15441800-15457000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:15442000-15449400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:15442000-15458600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr9:15442000-15463000	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr9:15442200-15469400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr9:15442400-15449800	Strong transcription	Fetal Stomach	stomach
23	chr9:15442400-15451800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr9:15442400-15464400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr9:15442600-15448600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr9:15442600-15455200	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr9:15442600-15455200	Strong transcription	Dnd41	blood
28	chr9:15442600-15478200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr9:15442600-15478600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr9:15442800-15448200	Strong transcription	Spleen	Spleen
31	chr9:15442800-15450200	Strong transcription	Brain Angular Gyrus	brain
32	chr9:15442800-15451000	Strong transcription	Thymus	Thymus
33	chr9:15442800-15453400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:15442800-15456200	Strong transcription	Fetal Muscle Leg	muscle
35	chr9:15442800-15508400	Strong transcription	Fetal Thymus	thymus
36	chr9:15443000-15446000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:15443000-15455400	Strong transcription	Adipose Nuclei	Adipose
38	chr9:15443000-15457000	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr9:15443000-15462400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:15443000-15463800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr9:15443000-15470200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr9:15443000-15478000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr9:15443000-15482200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr9:15443200-15445600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:15443200-15448800	Strong transcription	Primary T cells from cord blood	blood
46	chr9:15443200-15448800	Strong transcription	Brain Anterior Caudate	brain
47	chr9:15443200-15449600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr9:15443200-15450000	Strong transcription	Colonic Mucosa	Colon
49	chr9:15443200-15450000	Strong transcription	Fetal Intestine Small	intestine
50	chr9:15443200-15455200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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