Variant report

Variant	rs570917509
Chromosome Location	chr2:178417738-178417739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178027921..178029669-chr2:178417359..178420313,2	K562	blood:
2	chr2:178075873..178078560-chr2:178417023..178418935,2	K562	blood:
3	chr2:178256384..178258999-chr2:178416044..178418294,3	K562	blood:
4	chr2:178415963..178418015-chr2:178480825..178484170,3	K562	blood:
5	chr2:178256384..178259130-chr2:178415368..178419750,5	K562	blood:
6	chr2:178416378..178418708-chr2:178482397..178484777,2	MCF-7	breast:
7	chr2:178075873..178078560-chr2:178415979..178418935,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197557	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000236501	Chromatin interaction
ENSG00000018510	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000213963	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000263721	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178416200-178418400	Active TSS	Rectal Smooth Muscle	rectum
2	chr2:178416600-178418000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr2:178416600-178418200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:178416600-178418400	Active TSS	Fetal Lung	lung
5	chr2:178416600-178418400	Active TSS	A549	lung
6	chr2:178416600-178418600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:178416600-178418600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:178416600-178418600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:178416600-178418600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr2:178416600-178418600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr2:178416600-178418600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:178416600-178418600	Active TSS	HSMM	muscle
13	chr2:178416800-178418000	Active TSS	Primary T cells from cord blood	blood
14	chr2:178416800-178418000	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr2:178416800-178418200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:178416800-178418200	Active TSS	Thymus	Thymus
17	chr2:178416800-178418400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:178416800-178418400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr2:178416800-178418400	Active TSS	HSMMtube	muscle
20	chr2:178416800-178418400	Active TSS	NH-A	brain
21	chr2:178416800-178418400	Active TSS	NHLF	lung
22	chr2:178416800-178418600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr2:178416800-178418600	Active TSS	H1 Cell Line	embryonic stem cell
24	chr2:178416800-178418600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:178416800-178418600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:178416800-178418600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr2:178416800-178418600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:178416800-178418600	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr2:178416800-178418600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:178416800-178418600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:178416800-178418600	Active TSS	Fetal Intestine Large	intestine
32	chr2:178416800-178418600	Active TSS	Fetal Intestine Small	intestine
33	chr2:178417000-178418000	Active TSS	GM12878-XiMat	blood
34	chr2:178417000-178418200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:178417000-178418200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:178417000-178418200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:178417000-178418200	Active TSS	Fetal Kidney	kidney
38	chr2:178417000-178418200	Active TSS	Placenta Amnion	Placenta Amnion
39	chr2:178417000-178418200	Active TSS	NHEK	skin
40	chr2:178417000-178418400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr2:178417000-178418400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:178417000-178418400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:178417000-178418400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:178417000-178418400	Active TSS	Aorta	Aorta
45	chr2:178417000-178418400	Active TSS	Brain Angular Gyrus	brain
46	chr2:178417000-178418400	Active TSS	Brain Hippocampus Middle	brain
47	chr2:178417000-178418400	Active TSS	Brain Substantia Nigra	brain
48	chr2:178417000-178418400	Active TSS	Esophagus	oesophagus
49	chr2:178417000-178418400	Active TSS	Fetal Heart	heart
50	chr2:178417000-178418400	Active TSS	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links