Variant report

Variant	rs346498
Chromosome Location	chr4:86851560-86851561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11724681	0.83[CEU][hapmap];0.81[MEX][hapmap]
rs2575680	0.83[CEU][hapmap];0.81[MEX][hapmap]
rs2589504	0.83[CEU][hapmap];0.81[MEX][hapmap]
rs2665877	0.83[CEU][hapmap]
rs346467	0.83[CEU][hapmap]
rs346471	0.82[CEU][hapmap]
rs346475	0.87[CEU][hapmap];0.81[MEX][hapmap]
rs346478	0.83[CEU][hapmap];0.81[MEX][hapmap]
rs346480	0.83[CEU][hapmap];0.81[MEX][hapmap]
rs346492	0.83[CEU][hapmap]
rs346502	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs346503	0.82[EUR][1000 genomes]
rs346504	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs346505	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs346506	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs346507	0.91[CEU][hapmap];0.82[EUR][1000 genomes]

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	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879519	chr4:86786204-86871282	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879520	chr4:86829529-86918232	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86843200-86852400	Weak transcription	Esophagus	oesophagus
2	chr4:86844400-86853800	Weak transcription	Gastric	stomach
3	chr4:86847000-86853200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:86848600-86856000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:86849200-86851800	Enhancers	Primary hematopoietic stem cells	blood
6	chr4:86849200-86851800	Enhancers	NHDF-Ad	bronchial
7	chr4:86849600-86851600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:86849600-86852800	Enhancers	Fetal Thymus	thymus
9	chr4:86849800-86851600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:86849800-86851600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr4:86849800-86853400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:86850000-86851600	Enhancers	NHLF	lung
13	chr4:86850000-86852200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:86850000-86852200	Enhancers	Small Intestine	intestine
15	chr4:86850000-86852600	Enhancers	Fetal Muscle Leg	muscle
16	chr4:86850000-86853800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:86850200-86851600	Active TSS	A549	lung
18	chr4:86850200-86851800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:86850400-86851600	Enhancers	Primary T cells from cord blood	blood
20	chr4:86850400-86851600	Enhancers	Fetal Heart	heart
21	chr4:86850400-86851600	Flanking Active TSS	HepG2	liver
22	chr4:86850400-86852200	Flanking Active TSS	Liver	Liver
23	chr4:86850400-86854400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr4:86850600-86851600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr4:86850600-86851600	Flanking Active TSS	Dnd41	blood
26	chr4:86850600-86853000	Enhancers	Left Ventricle	heart
27	chr4:86850800-86851600	Active TSS	Rectal Smooth Muscle	rectum
28	chr4:86850800-86851800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:86850800-86854000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:86850800-86854200	Active TSS	Fetal Kidney	kidney
31	chr4:86851000-86851600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:86851000-86851600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr4:86851000-86851600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr4:86851000-86851600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr4:86851000-86851600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr4:86851000-86851600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:86851000-86851600	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr4:86851000-86851600	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr4:86851000-86851600	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr4:86851000-86851600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr4:86851000-86851600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:86851000-86851600	Flanking Active TSS	Colonic Mucosa	Colon
43	chr4:86851000-86851600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr4:86851000-86851600	Enhancers	Fetal Muscle Trunk	muscle
45	chr4:86851000-86851600	Enhancers	Placenta	Placenta
46	chr4:86851000-86851600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr4:86851000-86852000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr4:86851000-86852000	Enhancers	Fetal Lung	lung
49	chr4:86851000-86852600	Active TSS	Duodenum Mucosa	Duodenum
50	chr4:86851000-86853000	Enhancers	H1 Cell Line	embryonic stem cell

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