Variant report

Variant	rs73338882
Chromosome Location	chr7:50603665-50603666
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50601758..50604303-chr7:50604942..50607334,2	K562	blood:
2	chr7:50598241..50600922-chr7:50601073..50603965,2	K562	blood:
3	chr7:50601800..50604303-chr7:50605834..50607689,2	K562	blood:

Variant related genes	Relation type
ENSG00000226122	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11575319	1.00[AFR][1000 genomes]
rs59580169	0.89[AFR][1000 genomes]
rs73342821	0.84[AFR][1000 genomes]
rs73342826	0.84[AFR][1000 genomes]
rs73342830	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv429750	chr7:50603534-50622712	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 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	chr7:50600200-50612600	Weak transcription	Small Intestine	intestine
4	chr7:50600600-50619400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:50601400-50603800	Enhancers	Placenta	Placenta
6	chr7:50601600-50631400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:50602200-50603800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:50602200-50603800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:50602400-50604200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:50602400-50604200	Enhancers	NHDF-Ad	bronchial
11	chr7:50602600-50618200	Weak transcription	Pancreas	Pancrea
12	chr7:50602800-50604200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr7:50602800-50604400	Enhancers	Hela-S3	cervix
14	chr7:50602800-50604400	Weak transcription	HepG2	liver
15	chr7:50602800-50606400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:50602800-50609600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:50602800-50610200	Weak transcription	Colonic Mucosa	Colon
18	chr7:50602800-50613800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:50603200-50604000	Genic enhancers	Fetal Intestine Large	intestine
20	chr7:50603200-50606000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:50603400-50603800	Enhancers	K562	blood
22	chr7:50603400-50604200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:50603600-50604600	Strong transcription	Liver	Liver
24	chr7:50603600-50613000	Strong transcription	Duodenum Mucosa	Duodenum

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