Variant report

Variant	rs530093363
Chromosome Location	chr1:211594169-211594170
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	chr1:211592567..211595477-chr1:211598046..211600040,2	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	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	esv1824154	chr1:211565640-211614280	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
3	nsv945612	chr1:211593276-211615726	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211581400-211608200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:211589600-211608800	Weak transcription	GM12878-XiMat	blood
3	chr1:211590200-211601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:211590400-211604400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:211590400-211607200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:211590400-211607600	Weak transcription	Left Ventricle	heart
7	chr1:211590400-211609000	Weak transcription	Primary B cells from cord blood	blood
8	chr1:211590600-211602400	Weak transcription	Liver	Liver
9	chr1:211590600-211605600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:211591000-211594200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:211591000-211607400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:211592200-211605600	Weak transcription	Fetal Intestine Small	intestine
13	chr1:211593200-211594400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:211593200-211594400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:211593200-211594800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:211593400-211594800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:211593400-211594800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:211593400-211595400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:211593600-211594600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:211593600-211594600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:211593600-211594600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:211593600-211594800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:211593600-211594800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:211593600-211594800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:211593600-211594800	Enhancers	Hela-S3	cervix
26	chr1:211593600-211594800	Enhancers	HSMM	muscle
27	chr1:211593600-211595000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:211593600-211595000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:211593600-211595000	Enhancers	Osteobl	bone
30	chr1:211593800-211594200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:211593800-211594200	Weak transcription	HSMMtube	muscle
32	chr1:211593800-211594600	Enhancers	NH-A	brain
33	chr1:211593800-211594800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr1:211593800-211594800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:211593800-211594800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:211593800-211594800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:211594000-211594400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:211594000-211594400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:211594000-211594400	Weak transcription	NHLF	lung
40	chr1:211594000-211594800	Enhancers	NHDF-Ad	bronchial

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