Variant report

Variant	rs2282931
Chromosome Location	chr7:50755514-50755515
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13241205	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13243873	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1800504	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2214964	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237475	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237476	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237480	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237484	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237487	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237489	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2240499	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2244347	0.81[CHD][hapmap]
rs2244351	0.89[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2244353	0.89[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2244372	0.89[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2244480	0.89[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2529408	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2529410	0.88[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2529412	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2715132	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs730652	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	esv275051	chr7:50755514-50756320	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:50738800-50765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:50742200-50758200	Weak transcription	Brain Germinal Matrix	brain
4	chr7:50742200-50765200	Weak transcription	NHLF	lung
5	chr7:50742600-50757000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:50742600-50762200	Weak transcription	Hela-S3	cervix
7	chr7:50742600-50763000	Weak transcription	HSMM	muscle
8	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
9	chr7:50742800-50756200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:50742800-50757600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:50743000-50756400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:50745600-50761200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:50745800-50769600	Weak transcription	Gastric	stomach
14	chr7:50746000-50765200	Weak transcription	Stomach Mucosa	stomach
15	chr7:50746400-50758400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:50748200-50758200	Weak transcription	Brain Anterior Caudate	brain
17	chr7:50750000-50756600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:50750000-50778600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:50750200-50758600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:50752200-50756200	Enhancers	Rectal Smooth Muscle	rectum
21	chr7:50752200-50756600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr7:50752600-50755600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:50752600-50759800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:50752800-50756200	Enhancers	Fetal Muscle Leg	muscle
25	chr7:50752800-50756800	Enhancers	Left Ventricle	heart
26	chr7:50752800-50765200	Weak transcription	Fetal Intestine Large	intestine
27	chr7:50753000-50757600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:50753200-50756400	Enhancers	Colon Smooth Muscle	Colon
29	chr7:50753200-50757000	Enhancers	Psoas Muscle	Psoas
30	chr7:50753400-50756800	Enhancers	Liver	Liver
31	chr7:50753600-50756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:50753600-50760600	Weak transcription	Fetal Lung	lung
33	chr7:50753800-50758400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:50753800-50765000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:50753800-50770000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:50754000-50755600	Weak transcription	Osteobl	bone
37	chr7:50754000-50758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:50754200-50757800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:50754200-50761400	Weak transcription	Placenta	Placenta
40	chr7:50754600-50755800	Strong transcription	A549	lung
41	chr7:50754600-50756000	Enhancers	Fetal Brain Female	brain
42	chr7:50754600-50756400	Genic enhancers	Stomach Smooth Muscle	stomach
43	chr7:50754600-50757000	Genic enhancers	Pancreas	Pancrea
44	chr7:50754600-50757400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:50754600-50757400	Strong transcription	Fetal Stomach	stomach
46	chr7:50754600-50757800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:50754800-50755600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr7:50754800-50757600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:50754800-50757600	Enhancers	Fetal Brain Male	brain
50	chr7:50755000-50755600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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