Variant report

Variant	rs17000594
Chromosome Location	chr4:76419565-76419566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17000597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17000603	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.81[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes]
rs17214073	0.89[JPT][hapmap]
rs56845638	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6849334	0.95[AFR][1000 genomes];0.84[EUR][1000 genomes]

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	nsv594687	chr4:76154064-76502748	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv534570	chr4:76214619-76498362	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76392600-76434800	Weak transcription	Gastric	stomach
2	chr4:76394600-76424600	Weak transcription	Right Ventricle	heart
3	chr4:76395800-76437000	Weak transcription	Aorta	Aorta
4	chr4:76395800-76437000	Weak transcription	Lung	lung
5	chr4:76395800-76437000	Weak transcription	Pancreas	Pancrea
6	chr4:76396200-76424400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:76396200-76437000	Weak transcription	Esophagus	oesophagus
8	chr4:76397800-76437000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:76398200-76434200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:76398800-76437200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:76399400-76434400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:76400600-76437000	Weak transcription	Spleen	Spleen
13	chr4:76401000-76436200	Weak transcription	Brain Angular Gyrus	brain
14	chr4:76402200-76422000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:76402200-76423000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:76402200-76425800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr4:76402400-76425800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:76402600-76423200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:76403000-76423800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:76403800-76433600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr4:76404400-76419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:76404400-76422800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:76404800-76422800	Strong transcription	Dnd41	blood
24	chr4:76405400-76422600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:76405600-76434400	Weak transcription	Fetal Heart	heart
26	chr4:76406000-76436600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:76406600-76438800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:76407800-76424600	Weak transcription	Fetal Brain Male	brain
29	chr4:76408000-76424600	Weak transcription	Ovary	ovary
30	chr4:76408000-76436600	Weak transcription	Hela-S3	cervix
31	chr4:76409400-76425800	Strong transcription	Fetal Thymus	thymus
32	chr4:76409600-76423800	Weak transcription	Fetal Brain Female	brain
33	chr4:76410000-76437200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:76410400-76421000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:76410400-76425600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr4:76411400-76435400	Weak transcription	Small Intestine	intestine
37	chr4:76412200-76425000	Weak transcription	Fetal Intestine Small	intestine
38	chr4:76412800-76419600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:76413200-76419600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr4:76413200-76422000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:76413200-76422000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:76413400-76419600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:76413400-76420000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:76413400-76422000	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr4:76413400-76423000	Strong transcription	Primary B cells from cord blood	blood
46	chr4:76414600-76427000	Weak transcription	Fetal Stomach	stomach
47	chr4:76414600-76429400	Weak transcription	HSMMtube	muscle
48	chr4:76415000-76424600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr4:76415200-76420600	Weak transcription	K562	blood
50	chr4:76415200-76423400	Weak transcription	Psoas Muscle	Psoas

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