Variant report

Variant	rs535489843
Chromosome Location	chr1:85513561-85513562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
6	esv3448123	chr1:85513114-85515312	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85512400-85515800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:85512800-85513600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr1:85512800-85513600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
4	chr1:85512800-85513600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
5	chr1:85512800-85513600	Bivalent Enhancer	Fetal Lung	lung
6	chr1:85512800-85513600	Active TSS	Right Atrium	heart
7	chr1:85512800-85513600	Flanking Active TSS	HMEC	breast
8	chr1:85512800-85514600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
9	chr1:85512800-85514800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
10	chr1:85513000-85513600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:85513000-85513600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr1:85513000-85513600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
13	chr1:85513000-85513600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr1:85513000-85513600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:85513000-85513600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:85513000-85513600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:85513000-85513600	Bivalent Enhancer	Esophagus	oesophagus
18	chr1:85513000-85513600	Bivalent/Poised TSS	Fetal Kidney	kidney
19	chr1:85513000-85513600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
20	chr1:85513000-85513600	Bivalent Enhancer	Small Intestine	intestine
21	chr1:85513000-85513800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:85513000-85513800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:85513000-85513800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:85513000-85513800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
25	chr1:85513000-85514200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr1:85513000-85514200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:85513000-85514200	Bivalent/Poised TSS	Fetal Brain Female	brain
28	chr1:85513000-85514400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:85513000-85514400	Active TSS	Duodenum Mucosa	Duodenum
30	chr1:85513000-85514400	Active TSS	Right Ventricle	heart
31	chr1:85513000-85514600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:85513000-85514600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:85513000-85514600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:85513000-85514800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr1:85513000-85514800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:85513000-85515000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr1:85513000-85515000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr1:85513000-85515800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr1:85513000-85515800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr1:85513200-85513600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:85513200-85513600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr1:85513200-85513600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:85513200-85513600	Bivalent Enhancer	Liver	Liver
44	chr1:85513200-85513600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
45	chr1:85513200-85513600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
46	chr1:85513200-85513600	Bivalent/Poised TSS	Stomach Mucosa	stomach
47	chr1:85513200-85513600	Flanking Bivalent TSS/Enh	NHEK	skin
48	chr1:85513200-85513800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:85513200-85513800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr1:85513200-85513800	Flanking Bivalent TSS/Enh	Placenta	Placenta

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