Variant report

Variant	rs12245917
Chromosome Location	chr10:27810621-27810622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27802914..27806574-chr10:27810162..27816250,5	MCF-7	breast:
2	chr10:27792686..27795040-chr10:27808631..27811139,2	K562	blood:
3	chr10:27802552..27806516-chr10:27806924..27811120,4	K562	blood:
4	chr10:27804368..27807313-chr10:27807904..27811120,3	K562	blood:

Variant related genes	Relation type
ENSG00000099246	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10437435	1.00[AMR][1000 genomes]
rs11015809	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11015822	1.00[AMR][1000 genomes]
rs12240762	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12242389	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12245719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12251554	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12253703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12261080	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12265154	1.00[AMR][1000 genomes]
rs16928129	1.00[AMR][1000 genomes]
rs73604013	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604014	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604025	1.00[AMR][1000 genomes]
rs74127330	1.00[AMR][1000 genomes]
rs7923439	1.00[AMR][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	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
3	nsv1045257	chr10:27572440-27926946	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1053952	chr10:27659365-27915029	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27794200-27817000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:27794400-27824000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:27794400-27837400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:27794800-27814200	Weak transcription	Ovary	ovary
5	chr10:27794800-27814600	Weak transcription	HSMMtube	muscle
6	chr10:27794800-27822800	Weak transcription	Colonic Mucosa	Colon
7	chr10:27794800-27823200	Weak transcription	Esophagus	oesophagus
8	chr10:27794800-27823200	Weak transcription	Spleen	Spleen
9	chr10:27795000-27813000	Weak transcription	Right Atrium	heart
10	chr10:27795200-27813800	Weak transcription	Fetal Brain Male	brain
11	chr10:27795200-27816800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr10:27795600-27814800	Weak transcription	Pancreas	Pancrea
13	chr10:27795600-27816800	Weak transcription	Brain Hippocampus Middle	brain
14	chr10:27795800-27822600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:27795800-27832600	Weak transcription	Small Intestine	intestine
16	chr10:27796000-27814600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr10:27799400-27811200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr10:27799600-27813800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr10:27800800-27823200	Weak transcription	Brain Anterior Caudate	brain
20	chr10:27801000-27812200	Weak transcription	K562	blood
21	chr10:27801000-27813400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr10:27801000-27813600	Weak transcription	Psoas Muscle	Psoas
23	chr10:27801000-27815200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr10:27801000-27816600	Weak transcription	HUVEC	blood vessel
25	chr10:27801200-27813400	Weak transcription	Brain Germinal Matrix	brain
26	chr10:27801600-27813800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr10:27801800-27829000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:27802800-27813600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:27803000-27813000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:27803000-27813600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr10:27803200-27812600	Weak transcription	Fetal Lung	lung
32	chr10:27803200-27818200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr10:27803200-27822600	Weak transcription	NH-A	brain
34	chr10:27803400-27814000	Weak transcription	A549	lung
35	chr10:27803400-27814200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr10:27803400-27822400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr10:27803400-27823200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr10:27803400-27823800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:27803400-27830800	Weak transcription	Hela-S3	cervix
40	chr10:27803800-27814600	Weak transcription	Osteobl	bone
41	chr10:27803800-27817000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr10:27803800-27817200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr10:27804000-27812600	Weak transcription	Left Ventricle	heart
44	chr10:27804000-27813400	Weak transcription	NHDF-Ad	bronchial
45	chr10:27804000-27813600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr10:27804000-27813600	Weak transcription	Primary B cells from cord blood	blood
47	chr10:27804000-27813800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr10:27804000-27814800	Weak transcription	HSMM	muscle
49	chr10:27804000-27816800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr10:27804000-27817400	Weak transcription	Fetal Muscle Leg	muscle

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