Variant report

Variant	rs11598953
Chromosome Location	chr10:96994949-96994950
allele	A/G
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	chr10:96994750-96995288	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:96994689-96995110	GM12891	blood:	n/a	n/a
3	POLR2A	chr10:96994876-96994998	A549	lung:	n/a	n/a
4	POLR2A	chr10:96994710-96995183	K562	blood:	n/a	n/a
5	POLR2A	chr10:96994737-96994995	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:96994655-96995111	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:96994682-96995088	GM12891	blood:	n/a	n/a
8	POLR2A	chr10:96994643-96996769	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000234026	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10128123	1.00[JPT][hapmap]
rs10218877	1.00[JPT][hapmap]
rs10509683	1.00[JPT][hapmap]
rs10882566	1.00[JPT][hapmap]
rs10882568	1.00[JPT][hapmap]
rs10882570	1.00[ASN][1000 genomes]
rs10882571	1.00[ASN][1000 genomes]
rs11188223	1.00[JPT][hapmap]
rs11188225	1.00[JPT][hapmap]
rs11188228	1.00[JPT][hapmap]
rs11188229	1.00[JPT][hapmap]
rs11188230	1.00[JPT][hapmap]
rs11188236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11188238	0.92[ASN][1000 genomes]
rs11188239	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598991	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11599546	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12262534	0.97[ASN][1000 genomes]
rs12262878	1.00[JPT][hapmap]
rs12764831	1.00[JPT][hapmap]
rs12783947	0.92[ASN][1000 genomes]
rs12784385	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16872	1.00[JPT][hapmap]
rs17524438	1.00[JPT][hapmap]
rs2449809	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs2478477	1.00[JPT][hapmap]
rs2478478	1.00[JPT][hapmap]
rs2478479	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs3210020	0.82[ASN][1000 genomes]
rs45510800	0.82[ASN][1000 genomes]
rs45605435	0.82[ASN][1000 genomes]
rs489807	1.00[JPT][hapmap]
rs509736	1.00[JPT][hapmap]
rs513661	1.00[JPT][hapmap]
rs589801	1.00[JPT][hapmap]
rs591157	1.00[JPT][hapmap]
rs591171	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs592055	1.00[JPT][hapmap]
rs594448	1.00[JPT][hapmap]
rs610046	1.00[JPT][hapmap]
rs611343	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs612490	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs613340	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs614682	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs626415	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs627173	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs628102	1.00[JPT][hapmap]
rs633345	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs637465	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs637939	0.82[CEU][hapmap]
rs648695	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs659949	1.00[JPT][hapmap]
rs664093	1.00[JPT][hapmap]
rs672860	1.00[JPT][hapmap]
rs685607	1.00[JPT][hapmap]
rs688706	1.00[JPT][hapmap]
rs689207	1.00[JPT][hapmap]
rs695217	1.00[JPT][hapmap]
rs7089303	1.00[JPT][hapmap]
rs7909072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[ASN][1000 genomes]
rs7924214	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv21432	chr10:96856006-96996043	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96990000-96995400	Weak transcription	K562	blood
2	chr10:96990000-96995800	Weak transcription	HepG2	liver
3	chr10:96990800-96995200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:96990800-96997400	Weak transcription	Stomach Mucosa	stomach
5	chr10:96990800-97005200	Weak transcription	Psoas Muscle	Psoas
6	chr10:96991000-96995600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr10:96991000-96995600	Weak transcription	HUVEC	blood vessel
8	chr10:96991000-96995800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr10:96991000-96996000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:96991000-96996200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:96991000-96996400	Weak transcription	Right Ventricle	heart
12	chr10:96991000-96997200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr10:96991000-96997400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr10:96991000-96997600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:96991000-96999800	Weak transcription	Fetal Lung	lung
16	chr10:96991000-97001200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:96991000-97001600	Weak transcription	Thymus	Thymus
18	chr10:96991000-97006400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr10:96991000-97006400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:96991000-97006600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr10:96991000-97006600	Weak transcription	Colon Smooth Muscle	Colon
22	chr10:96991000-97006600	Weak transcription	Right Atrium	heart
23	chr10:96991000-97007600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr10:96991000-97020400	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:96991000-97024000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:96991200-96996400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr10:96991200-97000000	Weak transcription	Fetal Kidney	kidney
28	chr10:96991200-97000200	Weak transcription	Fetal Thymus	thymus
29	chr10:96991400-97019000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:96991600-96996200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr10:96991600-96997400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr10:96991600-97001000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:96992000-96995000	Strong transcription	GM12878-XiMat	blood
34	chr10:96992000-96995600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr10:96992000-97005000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr10:96992000-97005800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:96992200-96997400	Weak transcription	Small Intestine	intestine
38	chr10:96992200-97009000	Strong transcription	Liver	Liver
39	chr10:96992400-96995200	Strong transcription	Spleen	Spleen
40	chr10:96992400-96995400	Strong transcription	Fetal Intestine Small	intestine
41	chr10:96992400-96995400	Strong transcription	NHLF	lung
42	chr10:96992400-96995600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr10:96992400-96995600	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr10:96992400-96996000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr10:96992400-96996200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr10:96992400-96996200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr10:96992400-96998600	Strong transcription	Fetal Stomach	stomach
48	chr10:96992400-96998800	Strong transcription	Left Ventricle	heart
49	chr10:96992400-96999000	Strong transcription	Adipose Nuclei	Adipose
50	chr10:96992400-97000000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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