Variant report

Variant	rs10514936
Chromosome Location	chr5:61874333-61874334
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	chr5:61874283-61874802	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr5:61874101-61874798	HUVEC	blood vessel:	n/a	chr5:61874513-61874523
3	POLR2A	chr5:61874294-61874815	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr5:61874248-61874868	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000240436	TF binding region
IPO11	TF binding region
LRRC70	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16890854	0.82[ASW][hapmap]
rs17382964	1.00[ASW][hapmap];0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17383748	1.00[ASW][hapmap]
rs17385157	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17467162	0.85[CHB][hapmap];0.95[ASN][1000 genomes]
rs17467190	1.00[ASW][hapmap];0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.93[ASN][1000 genomes]
rs2216707	0.80[AFR][1000 genomes]
rs2885582	0.80[AFR][1000 genomes]
rs3776633	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs45623332	0.95[ASN][1000 genomes]
rs6866966	0.97[ASN][1000 genomes]
rs7707553	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
2	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv881730	chr5:61750667-61883581	Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1020713	chr5:61786309-61921150	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv537770	chr5:61786309-61921150	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv881731	chr5:61794164-61941043	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv881732	chr5:61811970-62063366	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv881733	chr5:61828147-61877628	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv881734	chr5:61828147-61921815	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv881735	chr5:61831283-61877628	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv881736	chr5:61833440-61877628	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	esv2763458	chr5:61852234-62157166	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
17	nsv1022817	chr5:61853619-62149259	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
18	nsv881737	chr5:61857577-61877628	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61758800-61890000	Weak transcription	Small Intestine	intestine
2	chr5:61764200-61895800	Weak transcription	Pancreas	Pancrea
3	chr5:61793600-61905000	Weak transcription	NHEK	skin
4	chr5:61796800-61899000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:61802600-61889000	Weak transcription	NH-A	brain
6	chr5:61803000-61904400	Weak transcription	Fetal Kidney	kidney
7	chr5:61803200-61875000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:61815200-61890600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:61827200-61883600	Weak transcription	HepG2	liver
10	chr5:61827400-61899200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:61828200-61886800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:61834800-61899200	Weak transcription	Esophagus	oesophagus
13	chr5:61846600-61888400	Weak transcription	Gastric	stomach
14	chr5:61848200-61939600	Weak transcription	Brain Anterior Caudate	brain
15	chr5:61849600-61888800	Weak transcription	A549	lung
16	chr5:61852600-61881000	Weak transcription	Hela-S3	cervix
17	chr5:61856400-61888800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:61856400-61906400	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:61856600-61876200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:61856800-61884000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:61857200-61889000	Weak transcription	HSMM	muscle
22	chr5:61861400-61878400	Weak transcription	NHDF-Ad	bronchial
23	chr5:61861400-61902600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:61862200-61902600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:61863200-61874800	Weak transcription	Liver	Liver
26	chr5:61863200-61884600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:61863200-61888600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:61863200-61910200	Weak transcription	Right Ventricle	heart
29	chr5:61863400-61888400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:61864000-61874600	Weak transcription	Adipose Nuclei	Adipose
31	chr5:61864000-61887400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:61864000-61887400	Weak transcription	Fetal Lung	lung
33	chr5:61864000-61888400	Weak transcription	Lung	lung
34	chr5:61864200-61874400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:61864200-61875200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:61864200-61876400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:61864200-61883800	Weak transcription	Fetal Stomach	stomach
38	chr5:61864200-61888600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:61864200-61899200	Weak transcription	Thymus	Thymus
40	chr5:61864400-61888400	Weak transcription	Fetal Thymus	thymus
41	chr5:61864800-61945800	Weak transcription	HSMMtube	muscle
42	chr5:61865000-61883800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:61865000-61888400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:61865000-61890600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:61865000-61890600	Weak transcription	Fetal Intestine Large	intestine
46	chr5:61865200-61875800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:61865200-61887600	Weak transcription	Fetal Intestine Small	intestine
48	chr5:61865200-61888000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr5:61865200-61888200	Weak transcription	Aorta	Aorta
50	chr5:61865200-61888200	Weak transcription	Left Ventricle	heart

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