Variant report

Variant	rs11253065
Chromosome Location	chr10:583548-583549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:582102..583966-chr10:587212..590042,3	K562	blood:
2	chr10:583403..585208-chr10:714450..715956,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10128217	1.00[CHB][hapmap]
rs10128281	1.00[CHB][hapmap]
rs10128312	1.00[CHB][hapmap]
rs11252791	0.87[CHD][hapmap]
rs11253064	0.83[EUR][1000 genomes]
rs11253082	1.00[CEU][hapmap]
rs11253163	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11253258	1.00[CHB][hapmap]
rs11253265	1.00[CHB][hapmap]
rs12245224	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12249596	0.94[CHD][hapmap]
rs12251997	0.85[CHB][hapmap];0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs12252088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs12252141	1.00[CEU][hapmap]
rs12255922	1.00[CHB][hapmap]
rs12258965	0.88[CHD][hapmap];0.87[ASN][1000 genomes]
rs12261462	1.00[CHB][hapmap]
rs12263280	0.86[ASN][1000 genomes]
rs12265644	1.00[CHB][hapmap]
rs12266646	0.87[EUR][1000 genomes]
rs12267607	0.92[ASN][1000 genomes]
rs1672534	1.00[CHB][hapmap]
rs17136375	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17159676	1.00[CHB][hapmap]
rs17159691	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17159711	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17159756	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1773487	1.00[CHB][hapmap]
rs2386709	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4472852	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs58217739	0.89[EUR][1000 genomes]
rs58828402	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7074740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs7093951	1.00[CHB][hapmap]
rs7100363	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs73574227	0.89[EUR][1000 genomes]
rs73576221	0.89[ASN][1000 genomes]
rs73581612	0.86[ASN][1000 genomes]
rs73581620	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7893218	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7906612	1.00[CEU][hapmap]
rs7912391	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7914425	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs7917823	0.82[EUR][1000 genomes]
rs7917949	0.82[EUR][1000 genomes]
rs816600	0.85[CHB][hapmap]
rs816643	1.00[CEU][hapmap]
rs816650	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[TSI][hapmap];0.80[ASN][1000 genomes]
rs885593	0.88[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531919	chr10:60001-668649	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1046313	chr10:224406-691123	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv540385	chr10:224406-691123	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1036501	chr10:224406-775824	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1052660	chr10:224406-785929	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1043752	chr10:224406-789665	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv916363	chr10:224406-816628	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916591	chr10:224406-1088734	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv530114	chr10:226083-596534	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv1035580	chr10:248463-832240	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv540392	chr10:248463-832240	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv1040466	chr10:278544-626866	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv932647	chr10:278852-624284	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv530115	chr10:294172-633529	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
16	nsv549751	chr10:313304-734229	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
17	nsv1050252	chr10:375035-839594	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv540397	chr10:375035-839594	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
19	nsv1036348	chr10:387880-817037	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
20	nsv1051016	chr10:419265-647337	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
21	nsv540398	chr10:419265-647337	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
22	nsv1035712	chr10:436747-714987	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
23	nsv1048859	chr10:442805-887622	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
24	nsv1039958	chr10:450753-889167	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
25	nsv540400	chr10:450753-889167	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
26	nsv549753	chr10:458477-894838	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
27	nsv831765	chr10:466002-631099	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv868946	chr10:503401-816628	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
29	nsv894706	chr10:518199-583548	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	nsv1039849	chr10:535309-829217	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
31	nsv915560	chr10:536704-816628	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
32	nsv916839	chr10:536707-817076	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
33	nsv894707	chr10:552355-752193	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
34	nsv894708	chr10:561952-631041	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
35	nsv894709	chr10:570172-678605	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
36	nsv1044857	chr10:577396-856059	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
37	nsv540402	chr10:577396-856059	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
38	nsv528733	chr10:577444-838378	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
39	nsv1044267	chr10:581928-645916	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:573200-587200	Weak transcription	Gastric	stomach
2	chr10:573200-587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:578400-587800	Weak transcription	Fetal Muscle Leg	muscle
4	chr10:579800-587200	Weak transcription	Pancreas	Pancrea
5	chr10:580400-585400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:580600-587600	Weak transcription	Fetal Intestine Small	intestine
7	chr10:581000-583800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:581200-587200	Weak transcription	Esophagus	oesophagus
9	chr10:581200-587600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:581400-583600	Enhancers	Colon Smooth Muscle	Colon
11	chr10:582000-583600	Enhancers	Brain Substantia Nigra	brain
12	chr10:582000-583800	Enhancers	Brain Anterior Caudate	brain
13	chr10:582000-585800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:582400-583800	Enhancers	Brain Hippocampus Middle	brain
15	chr10:582400-587200	Weak transcription	Psoas Muscle	Psoas
16	chr10:582600-583600	Enhancers	Brain Angular Gyrus	brain
17	chr10:582600-592600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:582800-583600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr10:582800-583600	Enhancers	Brain Cingulate Gyrus	brain
20	chr10:583000-583600	Enhancers	Fetal Brain Male	brain
21	chr10:583000-584400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr10:583000-587000	Weak transcription	Right Ventricle	heart
23	chr10:583200-583600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:583200-584800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:583200-587200	Weak transcription	Adipose Nuclei	Adipose
26	chr10:583200-587400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr10:583200-587400	Weak transcription	Ovary	ovary
28	chr10:583200-587600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr10:583200-587600	Weak transcription	Right Atrium	heart
30	chr10:583200-587800	Weak transcription	Fetal Stomach	stomach
31	chr10:583200-587800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr10:583200-592600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr10:583200-593000	Weak transcription	NH-A	brain
34	chr10:583200-604800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:583400-583800	Enhancers	Brain Germinal Matrix	brain
36	chr10:583400-583800	Weak transcription	Left Ventricle	heart
37	chr10:583400-584800	Weak transcription	Osteobl	bone
38	chr10:583400-587400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr10:583400-587600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr10:583400-588000	Weak transcription	Rectal Smooth Muscle	rectum

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