Variant report

Variant	rs10491250
Chromosome Location	chr5:126882645-126882646
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	STAT3	chr5:126882306-126882784	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PRRC1	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10064653	1.00[CHB][hapmap]
rs10519935	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs11745840	1.00[CEU][hapmap]
rs12109001	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12110288	0.81[EUR][1000 genomes]
rs1363384	1.00[AFR][1000 genomes]
rs1363386	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1529468	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17164752	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17164824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164825	0.82[CHB][hapmap]
rs17164828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164923	1.00[CEU][hapmap]
rs17164951	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17165013	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17165018	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17165019	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17684644	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17684655	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17684679	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17684691	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17684740	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17684775	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17763126	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17763172	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17839687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1990954	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1990955	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2042942	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2108888	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2270933	1.00[CEU][hapmap]
rs3851468	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs3885906	0.93[EUR][1000 genomes]
rs55821064	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865700	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6866275	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6873921	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6874260	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6877383	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6892624	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6897163	1.00[CEU][hapmap]
rs7728864	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7737871	1.00[CEU][hapmap]
rs929781	1.00[CEU][hapmap]
rs929782	1.00[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS 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	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126855400-126883200	Weak transcription	Stomach Mucosa	stomach
2	chr5:126860600-126889400	Weak transcription	Esophagus	oesophagus
3	chr5:126870600-126898000	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:126871000-126892800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:126871200-126883600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:126871200-126889400	Weak transcription	Aorta	Aorta
7	chr5:126871200-126889400	Weak transcription	Gastric	stomach
8	chr5:126871200-126889400	Weak transcription	Pancreas	Pancrea
9	chr5:126871200-126889400	Weak transcription	Spleen	Spleen
10	chr5:126871200-126896800	Weak transcription	Colonic Mucosa	Colon
11	chr5:126871400-126887600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:126871400-126891600	Weak transcription	Right Ventricle	heart
13	chr5:126871600-126887400	Weak transcription	Brain Angular Gyrus	brain
14	chr5:126871600-126888000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:126871600-126889000	Weak transcription	Small Intestine	intestine
16	chr5:126871800-126901400	Weak transcription	Brain Substantia Nigra	brain
17	chr5:126875200-126886400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:126875200-126887400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:126875400-126883400	Weak transcription	HMEC	breast
20	chr5:126875600-126887400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:126875600-126889000	Weak transcription	NHEK	skin
22	chr5:126875800-126883000	Weak transcription	HepG2	liver
23	chr5:126875800-126887400	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:126875800-126887400	Weak transcription	Fetal Kidney	kidney
25	chr5:126875800-126887400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:126875800-126889600	Weak transcription	Psoas Muscle	Psoas
27	chr5:126876000-126885600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:126876000-126886200	Weak transcription	Brain Anterior Caudate	brain
29	chr5:126876000-126891400	Weak transcription	Fetal Heart	heart
30	chr5:126876000-126898000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:126876200-126884800	Weak transcription	NHLF	lung
32	chr5:126876200-126887400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:126876400-126883400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:126876400-126883400	Weak transcription	A549	lung
35	chr5:126876400-126883400	Weak transcription	Hela-S3	cervix
36	chr5:126876400-126883400	Weak transcription	HSMMtube	muscle
37	chr5:126876400-126883400	Weak transcription	HUVEC	blood vessel
38	chr5:126876400-126883600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:126876400-126883800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:126876400-126884000	Weak transcription	Primary B cells from cord blood	blood
41	chr5:126876400-126885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:126876400-126885200	Weak transcription	Fetal Lung	lung
43	chr5:126876400-126885600	Weak transcription	K562	blood
44	chr5:126876400-126886400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:126876400-126887400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:126876400-126887400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:126876400-126887400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr5:126876400-126888000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:126876400-126891200	Weak transcription	Fetal Brain Male	brain
50	chr5:126876400-126891400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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