Variant report

Variant	rs2167363
Chromosome Location	chr7:50601374-50601375
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	chr7:50598241..50600922-chr7:50601073..50603965,2	K562	blood:

Variant related genes	Relation type
ENSG00000226122	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10228056	0.88[YRI][hapmap];0.86[EUR][1000 genomes]
rs11575351	0.86[EUR][1000 genomes]
rs11575383	1.00[CHB][hapmap]
rs11575387	1.00[CHB][hapmap]
rs11575388	1.00[CHB][hapmap]
rs11575450	1.00[CHB][hapmap]
rs11763051	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771860	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1304692	0.86[EUR][1000 genomes]
rs17133842	1.00[CHB][hapmap]
rs17133853	1.00[CHB][hapmap]
rs17133881	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17152014	1.00[CHB][hapmap]
rs2122819	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2329364	0.88[YRI][hapmap]
rs4245549	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455783	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947621	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4947625	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4947631	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57716050	0.86[EUR][1000 genomes]
rs58537381	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59221245	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61042486	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342836	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73342839	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73342848	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7791875	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:50595200-50604600	Genic enhancers	Fetal Intestine Small	intestine
3	chr7:50597000-50601400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:50597200-50603600	Weak transcription	Liver	Liver
5	chr7:50597400-50601400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:50597800-50601400	Weak transcription	HepG2	liver
7	chr7:50597800-50602400	Weak transcription	Stomach Mucosa	stomach
8	chr7:50599600-50601400	Weak transcription	K562	blood
9	chr7:50599600-50601600	Weak transcription	NHLF	lung
10	chr7:50599600-50602600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:50599800-50601400	Weak transcription	Hela-S3	cervix
12	chr7:50599800-50602400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:50599800-50602400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:50599800-50602400	Weak transcription	HUVEC	blood vessel
15	chr7:50599800-50602400	Weak transcription	NHDF-Ad	bronchial
16	chr7:50600000-50601400	Weak transcription	Placenta	Placenta
17	chr7:50600000-50601400	Weak transcription	Pancreas	Pancrea
18	chr7:50600000-50601600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:50600000-50602200	Weak transcription	HSMM	muscle
20	chr7:50600000-50602400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:50600000-50602400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:50600000-50602400	Weak transcription	Brain Anterior Caudate	brain
23	chr7:50600000-50602400	Weak transcription	Osteobl	bone
24	chr7:50600200-50601400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:50600200-50601600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:50600200-50601600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:50600200-50601600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:50600200-50602000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:50600200-50602200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:50600200-50602200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:50600200-50602200	Weak transcription	NH-A	brain
32	chr7:50600200-50602400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:50600200-50602600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:50600200-50612600	Weak transcription	Small Intestine	intestine
35	chr7:50600400-50601400	Weak transcription	A549	lung
36	chr7:50600400-50601800	Weak transcription	HMEC	breast
37	chr7:50600400-50601800	Weak transcription	NHEK	skin
38	chr7:50600400-50602400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:50600600-50619400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:50601200-50601600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr7:50601200-50603200	Enhancers	Fetal Intestine Large	intestine

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