Variant report

Variant	rs4917592
Chromosome Location	chr10:112754479-112754480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:112754379..112754899-chr3:63098936..63099654,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10749055	0.88[AFR][1000 genomes]
rs10749056	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10749057	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1571240	0.88[AFR][1000 genomes]
rs17128168	0.83[AFR][1000 genomes]
rs2273934	0.93[YRI][hapmap]
rs4918615	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs4918616	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59104392	1.00[EUR][1000 genomes]
rs6585028	0.88[AFR][1000 genomes]
rs6585029	1.00[EUR][1000 genomes]
rs7088524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7101351	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347731	1.00[EUR][1000 genomes]
rs73347734	1.00[EUR][1000 genomes]
rs7913363	0.82[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035602	chr10:112636053-112781413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1051327	chr10:112650316-112772917	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv540774	chr10:112650316-112772917	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1048809	chr10:112683822-112781413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1042020	chr10:112686323-112795159	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1035422	chr10:112724159-112764594	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1048444	chr10:112724159-112795159	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1036202	chr10:112726834-112781413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv1051595	chr10:112730022-112789048	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv1047412	chr10:112747749-112781413	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112700600-112764000	Weak transcription	Placenta	Placenta
2	chr10:112702400-112754800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:112705200-112789800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:112707200-112755000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:112707200-112784200	Weak transcription	Left Ventricle	heart
6	chr10:112709000-112760000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:112712600-112755000	Weak transcription	Fetal Thymus	thymus
8	chr10:112719400-112760800	Weak transcription	Fetal Muscle Leg	muscle
9	chr10:112719800-112759200	Weak transcription	Fetal Lung	lung
10	chr10:112723200-112783000	Weak transcription	Small Intestine	intestine
11	chr10:112724800-112760200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr10:112726600-112764000	Weak transcription	HUVEC	blood vessel
13	chr10:112727400-112764400	Weak transcription	Adipose Nuclei	Adipose
14	chr10:112732400-112763800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr10:112732600-112789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:112732800-112755000	Weak transcription	Fetal Intestine Large	intestine
17	chr10:112732800-112782800	Weak transcription	Esophagus	oesophagus
18	chr10:112732800-112789400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:112738000-112782800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:112738200-112784600	Weak transcription	Ovary	ovary
21	chr10:112738400-112779400	Weak transcription	HepG2	liver
22	chr10:112739200-112774400	Weak transcription	Gastric	stomach
23	chr10:112739400-112764400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr10:112739600-112769000	Weak transcription	Fetal Kidney	kidney
25	chr10:112740000-112755000	Weak transcription	Aorta	Aorta
26	chr10:112740400-112791800	Weak transcription	Colon Smooth Muscle	Colon
27	chr10:112740600-112761000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr10:112741000-112756000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr10:112744800-112756000	Weak transcription	Fetal Intestine Small	intestine
30	chr10:112744800-112778800	Weak transcription	Hela-S3	cervix
31	chr10:112745600-112762400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr10:112745600-112769400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:112745600-112777600	Weak transcription	Pancreas	Pancrea
34	chr10:112746000-112758200	Weak transcription	Stomach Mucosa	stomach
35	chr10:112746000-112783400	Weak transcription	Colonic Mucosa	Colon
36	chr10:112746800-112763800	Weak transcription	Fetal Stomach	stomach
37	chr10:112746800-112782800	Weak transcription	Psoas Muscle	Psoas
38	chr10:112747000-112760600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr10:112747400-112758600	Weak transcription	Liver	Liver
40	chr10:112747400-112779800	Weak transcription	Fetal Brain Male	brain
41	chr10:112747600-112785200	Weak transcription	Fetal Brain Female	brain
42	chr10:112749000-112760200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr10:112749200-112789400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr10:112749800-112758200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr10:112750000-112758000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:112750400-112785000	Weak transcription	A549	lung
47	chr10:112750800-112757200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:112751800-112772600	Weak transcription	K562	blood
49	chr10:112752000-112764200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr10:112752200-112760000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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