Variant report

Variant	rs2240500
Chromosome Location	chr7:50737999-50738000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50736808..50739059-chr7:50744973..50747020,2	K562	blood:
2	chr7:50732851..50735812-chr7:50737426..50740683,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2190495	0.82[CHB][hapmap]
rs2237442	0.81[CHB][hapmap]
rs2237470	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237471	0.95[CHB][hapmap]
rs2237474	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2244347	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2244351	0.90[JPT][hapmap]
rs2244353	0.90[JPT][hapmap]
rs2244372	0.90[JPT][hapmap]
rs2244479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2244480	0.90[JPT][hapmap]
rs2529410	0.85[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs2529411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2529415	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2715110	0.87[AFR][1000 genomes]
rs2715135	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50706400-50744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:50710000-50743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:50715600-50740600	Weak transcription	Brain Germinal Matrix	brain
6	chr7:50716600-50740200	Weak transcription	Fetal Intestine Large	intestine
7	chr7:50720600-50739400	Enhancers	Right Atrium	heart
8	chr7:50724200-50742800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:50726000-50741000	Weak transcription	Fetal Brain Female	brain
10	chr7:50729800-50741600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:50730200-50744000	Weak transcription	Small Intestine	intestine
12	chr7:50730200-50748600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:50730400-50738600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:50731000-50741400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:50731400-50743200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:50731800-50750000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:50732600-50749200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:50733200-50743600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:50733600-50738400	Strong transcription	A549	lung
20	chr7:50733600-50741800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:50733800-50742600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:50734200-50743400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:50734200-50748800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:50734400-50740600	Weak transcription	Esophagus	oesophagus
25	chr7:50734400-50740800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:50734400-50742400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:50734800-50739600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:50734800-50740200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:50735400-50738000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:50735400-50743000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:50735400-50744400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:50735600-50738000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:50735600-50738000	Genic enhancers	Pancreas	Pancrea
34	chr7:50735600-50738600	Weak transcription	Brain Angular Gyrus	brain
35	chr7:50735600-50739600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:50735600-50742400	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr7:50735800-50741200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:50735800-50743200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:50735800-50745000	Weak transcription	Stomach Mucosa	stomach
40	chr7:50736000-50738800	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:50736000-50739000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:50736000-50742800	Strong transcription	Fetal Stomach	stomach
43	chr7:50736000-50743200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:50736000-50743400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:50736000-50743600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:50736200-50738000	Strong transcription	Fetal Lung	lung
47	chr7:50736200-50738000	Strong transcription	NH-A	brain
48	chr7:50736200-50738800	Weak transcription	Brain Anterior Caudate	brain
49	chr7:50736200-50739800	Weak transcription	Gastric	stomach
50	chr7:50736200-50740200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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