Variant report

Variant	rs2237490
Chromosome Location	chr7:50757541-50757542
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1019000	0.82[ASN][1000 genomes]
rs1024531	0.82[ASN][1000 genomes]
rs10265504	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11763072	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11763778	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11765762	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12668316	0.85[ASN][1000 genomes]
rs13311390	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2058014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2074777	0.85[ASN][1000 genomes]
rs2190502	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2214963	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299153	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2329489	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3779072	0.84[AFR][1000 genomes]
rs3801000	0.81[ASN][1000 genomes]
rs4521715	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947806	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6943153	0.86[ASN][1000 genomes]
rs6967612	0.85[ASN][1000 genomes]
rs7793570	0.84[ASN][1000 genomes]
rs7809623	0.85[ASN][1000 genomes]
rs7809775	0.82[ASN][1000 genomes]
rs933360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:91 , 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	chr7:50742600-50762200	Weak transcription	Hela-S3	cervix
6	chr7:50742600-50763000	Weak transcription	HSMM	muscle
7	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
8	chr7:50742800-50757600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:50745600-50761200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:50745800-50769600	Weak transcription	Gastric	stomach
11	chr7:50746000-50765200	Weak transcription	Stomach Mucosa	stomach
12	chr7:50746400-50758400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:50748200-50758200	Weak transcription	Brain Anterior Caudate	brain
14	chr7:50750000-50778600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:50750200-50758600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:50752600-50759800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:50752800-50765200	Weak transcription	Fetal Intestine Large	intestine
18	chr7:50753000-50757600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:50753600-50760600	Weak transcription	Fetal Lung	lung
20	chr7:50753800-50758400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:50753800-50765000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:50753800-50770000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:50754000-50758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:50754200-50757800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:50754200-50761400	Weak transcription	Placenta	Placenta
26	chr7:50754600-50757800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:50754800-50757600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:50754800-50757600	Enhancers	Fetal Brain Male	brain
29	chr7:50755000-50757600	Strong transcription	NH-A	brain
30	chr7:50755200-50757600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:50755400-50777000	Weak transcription	Esophagus	oesophagus
32	chr7:50755600-50757800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr7:50755600-50758000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr7:50755600-50758200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:50755600-50765200	Weak transcription	Fetal Intestine Small	intestine
36	chr7:50755600-50768400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:50755800-50758200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:50755800-50758200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:50755800-50758400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:50755800-50758600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:50755800-50760800	Weak transcription	Brain Angular Gyrus	brain
42	chr7:50755800-50760800	Weak transcription	K562	blood
43	chr7:50755800-50761400	Weak transcription	Spleen	Spleen
44	chr7:50755800-50761800	Weak transcription	Right Ventricle	heart
45	chr7:50755800-50768400	Weak transcription	A549	lung
46	chr7:50756000-50758200	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:50756000-50758400	Weak transcription	Fetal Brain Female	brain
48	chr7:50756200-50757600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:50756200-50757600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:50756200-50757600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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