Variant report

Variant	rs11252863
Chromosome Location	chr10:5027085-5027086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5022739..5024559-chr10:5026616..5029182,2	K562	blood:
2	chr10:5019420..5021853-chr10:5026237..5028283,2	MCF-7	breast:
3	chr10:5026070..5027592-chr10:5040944..5042648,2	K562	blood:
4	chr10:5024450..5027192-chr10:5491126..5493048,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10904381	1.00[ASN][1000 genomes]
rs11252867	1.00[ASN][1000 genomes]
rs12356635	1.00[ASN][1000 genomes]
rs12357650	1.00[ASN][1000 genomes]
rs12772460	1.00[ASN][1000 genomes]
rs12774733	1.00[ASN][1000 genomes]
rs17396032	1.00[ASN][1000 genomes]
rs61854345	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription 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	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats 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	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	14 gene(s)	inside rSNPs	diseases
14	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv825221	chr10:4999349-5046239	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5005800-5027400	Weak transcription	Fetal Stomach	stomach
2	chr10:5005800-5045800	Weak transcription	HSMMtube	muscle
3	chr10:5008200-5044000	Weak transcription	Fetal Brain Male	brain
4	chr10:5009400-5027200	Weak transcription	Spleen	Spleen
5	chr10:5011600-5044200	Weak transcription	Fetal Brain Female	brain
6	chr10:5011800-5043800	Weak transcription	Psoas Muscle	Psoas
7	chr10:5019400-5044600	Weak transcription	Brain Germinal Matrix	brain
8	chr10:5021600-5032600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:5021800-5044400	Weak transcription	NHDF-Ad	bronchial
10	chr10:5023800-5027800	Enhancers	Pancreas	Pancrea
11	chr10:5024000-5032400	Weak transcription	Liver	Liver
12	chr10:5024200-5027200	Weak transcription	Lung	lung
13	chr10:5024400-5027200	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:5024400-5027200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:5024400-5028400	Enhancers	Fetal Heart	heart
16	chr10:5024400-5032800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:5024400-5036400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr10:5024400-5039400	Weak transcription	Ovary	ovary
19	chr10:5024400-5040400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr10:5024400-5040600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:5024400-5056800	Weak transcription	Esophagus	oesophagus
22	chr10:5024600-5032800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr10:5024800-5027800	Weak transcription	Aorta	Aorta
24	chr10:5024800-5028800	Enhancers	A549	lung
25	chr10:5024800-5030600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr10:5024800-5044400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:5024800-5051400	Weak transcription	Fetal Intestine Small	intestine
28	chr10:5025000-5045800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:5025200-5044200	Weak transcription	K562	blood
30	chr10:5026000-5027800	Enhancers	Adipose Nuclei	Adipose
31	chr10:5026400-5027600	Enhancers	Fetal Muscle Trunk	muscle
32	chr10:5026400-5028000	Enhancers	Fetal Muscle Leg	muscle
33	chr10:5026600-5027600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:5026600-5027800	Enhancers	Right Atrium	heart
35	chr10:5026600-5027800	Enhancers	Stomach Smooth Muscle	stomach
36	chr10:5026800-5027200	Weak transcription	Gastric	stomach
37	chr10:5026800-5027600	Enhancers	Right Ventricle	heart
38	chr10:5027000-5027200	Enhancers	Left Ventricle	heart
39	chr10:5027000-5027400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:5027000-5027400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:5027000-5027600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:5027000-5027600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr10:5027000-5027600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:5027000-5027600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr10:5027000-5027600	Enhancers	Fetal Kidney	kidney
46	chr10:5027000-5027800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:5027000-5027800	Enhancers	HepG2	liver
48	chr10:5027000-5027800	Enhancers	Osteobl	bone
49	chr10:5027000-5028200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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