Variant report

Variant	rs10251947
Chromosome Location	chr7:152564596-152564597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10230043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10235710	1.00[EUR][1000 genomes]
rs10251913	0.91[AMR][1000 genomes]
rs10255755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10255903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10259422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28473538	1.00[EUR][1000 genomes]
rs57449728	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58836438	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60610086	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61646248	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73490987	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73493112	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73493122	1.00[AMR][1000 genomes]
rs7801442	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033496	chr7:152125903-152615617	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv539208	chr7:152125903-152615617	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv1027100	chr7:152294734-152935140	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv831193	chr7:152353544-152592678	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv532221	chr7:152371297-152884547	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv868873	chr7:152371297-152900113	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv532222	chr7:152504090-153450290	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv889506	chr7:152521953-152631037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1019335	chr7:152546243-152676615	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv539209	chr7:152546243-152676615	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv508491	chr7:152558615-152588232	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv6008	chr7:152563270-152597257	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152489800-152568800	Weak transcription	Hela-S3	cervix
2	chr7:152510200-152569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:152527600-152564800	Weak transcription	A549	lung
4	chr7:152541000-152568400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:152548400-152564600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:152550000-152566600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:152551800-152566600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:152552000-152565600	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:152552000-152566400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:152552000-152566400	Weak transcription	Fetal Brain Female	brain
11	chr7:152552200-152565800	Weak transcription	HSMMtube	muscle
12	chr7:152553600-152567000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:152553800-152564800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:152553800-152565400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:152553800-152565800	Weak transcription	Esophagus	oesophagus
16	chr7:152553800-152566200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:152553800-152568000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:152553800-152568400	Weak transcription	Left Ventricle	heart
19	chr7:152553800-152569000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:152553800-152569400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:152554200-152571000	Weak transcription	Fetal Stomach	stomach
22	chr7:152554600-152564600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:152554600-152569200	Weak transcription	Right Ventricle	heart
24	chr7:152554800-152566000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:152556600-152565800	Weak transcription	Primary T cells from cord blood	blood
26	chr7:152559400-152569000	Weak transcription	Spleen	Spleen
27	chr7:152559600-152568600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:152562400-152574000	Weak transcription	Pancreas	Pancrea
29	chr7:152562600-152573200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:152563000-152565800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:152563000-152566200	Weak transcription	Gastric	stomach
32	chr7:152563000-152568800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:152563000-152569000	Weak transcription	Aorta	Aorta
34	chr7:152563400-152565000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:152563600-152564600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:152564400-152564600	Genic enhancers	Lung	lung

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