Variant report

Variant	rs2004820
Chromosome Location	chr11:108421367-108421368
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108418879..108421922-chr11:108422966..108427217,5	K562	blood:
2	chr11:108412756..108414624-chr11:108419670..108421901,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10502102	1.00[ASN][1000 genomes]
rs11821101	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17108175	1.00[ASN][1000 genomes]
rs1940213	0.87[ASN][1000 genomes]
rs2852190	1.00[ASN][1000 genomes]
rs2852191	1.00[ASN][1000 genomes]
rs4568972	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108385000-108422800	Weak transcription	Fetal Intestine Small	intestine
2	chr11:108409200-108423000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:108409600-108422600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:108409800-108422200	Weak transcription	Fetal Kidney	kidney
5	chr11:108409800-108422200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:108410000-108422800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:108410200-108422000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:108410200-108422400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:108414400-108422400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:108414800-108421800	Weak transcription	HSMMtube	muscle
11	chr11:108417200-108422200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:108417200-108441400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:108419600-108423400	Enhancers	Liver	Liver
14	chr11:108420000-108424000	Enhancers	Placenta	Placenta
15	chr11:108420200-108422200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:108420600-108421600	Weak transcription	NHEK	skin
17	chr11:108420600-108422400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:108420800-108422200	Enhancers	K562	blood
19	chr11:108420800-108423000	Enhancers	Lung	lung
20	chr11:108420800-108423800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:108420800-108427600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:108421000-108422200	Weak transcription	Stomach Mucosa	stomach
23	chr11:108421200-108422000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:108421200-108422400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:108421200-108422400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:108421200-108422400	Weak transcription	Esophagus	oesophagus

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