Variant report

Variant	rs7909319
Chromosome Location	chr10:96335883-96335884
allele	G/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	chr10:96335866-96336066	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:96335215-96336254	GM12892	blood:	n/a	n/a
3	POLR2A	chr10:96335819-96335981	HepG2	liver:	n/a	n/a
4	POLR2A	chr10:96335762-96336093	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr10:96335712-96335961	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr10:96335794-96336225	GM12891	blood:	n/a	n/a
7	POLR2A	chr10:96335265-96336276	GM12892	blood:	n/a	n/a
8	POLR2A	chr10:96335769-96336075	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:96335819-96336200	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr10:96335279-96336134	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr10:96335571-96336183	GM12892	blood:	n/a	n/a
12	POLR2A	chr10:96335829-96336084	K562	blood:	n/a	n/a
13	POLR2A	chr10:96335671-96336078	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr10:96335724-96336079	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr10:96335274-96336234	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000244332	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11188018	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11188024	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11188029	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11188034	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11188035	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12250480	0.84[ASW][hapmap]
rs12266316	0.92[ASN][1000 genomes]
rs1409654	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs17878649	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs2296679	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs2296682	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs2296684	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs3781263	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59336338	0.85[ASN][1000 genomes]
rs7082335	1.00[CHB][hapmap]
rs7092239	0.84[ASW][hapmap]
rs73329634	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73329662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73329685	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7907335	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7909713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7912667	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs7923806	1.00[CHB][hapmap]
rs7924292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1053747	chr10:96211618-96366396	Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers 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	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96306400-96357200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:96306400-96365600	Weak transcription	Esophagus	oesophagus
3	chr10:96306400-96370400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:96306400-96370600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:96306400-96371000	Weak transcription	Ovary	ovary
6	chr10:96306600-96349800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:96306600-96353800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:96306600-96379200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:96306800-96348000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr10:96306800-96348200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr10:96306800-96348400	Weak transcription	Primary B cells from cord blood	blood
12	chr10:96306800-96349800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr10:96306800-96357200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr10:96306800-96373000	Weak transcription	Primary T cells from cord blood	blood
15	chr10:96307000-96358200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:96307000-96375000	Weak transcription	Osteobl	bone
17	chr10:96307200-96371200	Weak transcription	Fetal Brain Male	brain
18	chr10:96307600-96356000	Weak transcription	NHDF-Ad	bronchial
19	chr10:96307600-96373200	Weak transcription	Brain Germinal Matrix	brain
20	chr10:96307800-96348200	Weak transcription	NHEK	skin
21	chr10:96307800-96373000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:96308000-96373200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:96309400-96340800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:96309400-96354000	Weak transcription	K562	blood
25	chr10:96309600-96372800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr10:96309600-96377000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr10:96310200-96339800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr10:96310400-96339800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:96312200-96354000	Weak transcription	Gastric	stomach
30	chr10:96312800-96372200	Strong transcription	Dnd41	blood
31	chr10:96314200-96339800	Strong transcription	Fetal Thymus	thymus
32	chr10:96314200-96373400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr10:96315000-96369200	Weak transcription	Fetal Kidney	kidney
34	chr10:96315600-96343800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr10:96315600-96345200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:96316000-96338200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:96316000-96371400	Weak transcription	Fetal Brain Female	brain
38	chr10:96316000-96374000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr10:96316200-96357600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr10:96316200-96373000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr10:96317000-96372600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr10:96317400-96348000	Weak transcription	NH-A	brain
43	chr10:96321000-96353200	Weak transcription	Fetal Intestine Large	intestine
44	chr10:96322600-96336200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr10:96323400-96340400	Weak transcription	HepG2	liver
46	chr10:96324000-96356600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr10:96324000-96376600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:96324200-96338400	Weak transcription	Thymus	Thymus
49	chr10:96324200-96353800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr10:96324200-96365600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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