Variant report

Variant	rs534011804
Chromosome Location	chr2:160966392-160966393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:160966151..160967115-chr2:161066856..161067816,4	K562	blood:
2	chr2:160750717..160753451-chr2:160965407..160967520,2	MCF-7	breast:
3	chr2:160964286..160967312-chr2:161082194..161085973,4	MCF-7	breast:
4	chr2:160964387..160968256-chr2:161077211..161080822,5	MCF-7	breast:
5	chr2:160966151..160967019-chr2:161919631..161920425,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875346	chr2:160965335-161044155	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160950800-160967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:160953200-160970800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:160954600-160970800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:160954600-160993000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:160955800-160968800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:160957000-160970200	Weak transcription	Pancreas	Pancrea
7	chr2:160957400-160981200	Weak transcription	Lung	lung
8	chr2:160959200-161004200	Weak transcription	Gastric	stomach
9	chr2:160959400-160985200	Weak transcription	Esophagus	oesophagus
10	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
11	chr2:160960000-160966400	Weak transcription	HSMMtube	muscle
12	chr2:160962400-160970800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:160962800-160971000	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr2:160963800-160969200	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:160964200-160993600	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:160964400-160967000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:160964400-160993600	Weak transcription	Fetal Intestine Large	intestine
18	chr2:160964800-160970800	Weak transcription	Stomach Mucosa	stomach
19	chr2:160965000-160966400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:160965000-160968200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:160965200-160968000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:160965400-160966400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:160965400-160966600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:160965600-160966400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr2:160965600-160967600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:160965600-160968000	Genic enhancers	NHEK	skin
27	chr2:160965600-160969200	Genic enhancers	HMEC	breast
28	chr2:160965800-160966400	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:160965800-160967200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:160965800-160969600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:160966000-160968000	Enhancers	A549	lung
32	chr2:160966200-160967200	Genic enhancers	HSMM	muscle
33	chr2:160966200-160969000	Strong transcription	Fetal Intestine Small	intestine

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