Variant report

Variant	rs190594777
Chromosome Location	chr1:161056212-161056213
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	chr1:161051697..161056385-chr1:161085679..161090534,7	K562	blood:

Variant related genes	Relation type
ENSG00000158793	Chromatin interaction
ENSG00000143256	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv3351730	chr1:161055728-161059526	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161039600-161066800	Weak transcription	Right Atrium	heart
2	chr1:161049400-161056400	Enhancers	HMEC	breast
3	chr1:161049400-161056600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:161050000-161057800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:161052200-161058400	Enhancers	Pancreas	Pancrea
6	chr1:161052400-161057000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:161052600-161056400	Enhancers	K562	blood
8	chr1:161052600-161056600	Enhancers	Fetal Intestine Large	intestine
9	chr1:161052800-161056400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:161053000-161056800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:161053200-161059200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:161053400-161058600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:161053600-161057400	Flanking Active TSS	Placenta	Placenta
14	chr1:161053600-161058800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:161053600-161063600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:161053800-161056800	Enhancers	NHEK	skin
17	chr1:161054200-161058800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:161054400-161056800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:161054600-161056600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:161054600-161057800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:161054600-161057800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:161055000-161056800	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:161055000-161057200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:161055000-161058400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:161055000-161058400	Weak transcription	Gastric	stomach
26	chr1:161055200-161056400	Bivalent Enhancer	HepG2	liver
27	chr1:161055200-161058400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:161055200-161064600	Weak transcription	Fetal Lung	lung
29	chr1:161055400-161057800	Weak transcription	NHDF-Ad	bronchial
30	chr1:161055400-161058000	Weak transcription	Osteobl	bone
31	chr1:161055400-161058200	Weak transcription	A549	lung
32	chr1:161055400-161058200	Weak transcription	NH-A	brain
33	chr1:161055400-161058200	Weak transcription	NHLF	lung
34	chr1:161055400-161058600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:161055400-161058600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:161055400-161059200	Active TSS	Esophagus	oesophagus
37	chr1:161055400-161061400	Weak transcription	HSMMtube	muscle
38	chr1:161055400-161062000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:161055400-161062400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:161055600-161057000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr1:161055600-161058200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:161055800-161056600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:161055800-161056800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:161055800-161056800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:161055800-161058000	Weak transcription	HSMM	muscle
46	chr1:161055800-161058400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:161056000-161056400	Flanking Active TSS	Stomach Mucosa	stomach
48	chr1:161056000-161056600	Flanking Active TSS	Hela-S3	cervix
49	chr1:161056000-161056800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:161056000-161056800	Enhancers	Rectal Mucosa Donor 29	rectum

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