Variant report

Variant	rs7014936
Chromosome Location	chr8:48395151-48395152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10086266	0.88[AFR][1000 genomes]
rs10090708	0.88[AFR][1000 genomes]
rs10090740	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs10093950	0.81[AFR][1000 genomes]
rs10094689	0.88[AFR][1000 genomes]
rs10099656	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10102782	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10104074	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs10104642	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10105470	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs10108990	0.83[AFR][1000 genomes]
rs10110049	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10111833	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs10111963	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs11987727	0.81[AFR][1000 genomes]
rs11989844	1.00[MEX][hapmap]
rs11993708	0.96[AFR][1000 genomes]
rs11997023	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28366397	0.81[AFR][1000 genomes]
rs28407704	0.82[AFR][1000 genomes]
rs28408352	0.88[AFR][1000 genomes]
rs28439682	0.81[AFR][1000 genomes]
rs28533391	0.88[AFR][1000 genomes]
rs28583978	0.84[AFR][1000 genomes]
rs28587193	0.96[AFR][1000 genomes]
rs28603312	0.85[AFR][1000 genomes]
rs28683713	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28812531	0.96[AFR][1000 genomes]
rs28897086	0.96[AFR][1000 genomes]
rs6980675	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6989067	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6994360	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7003614	0.88[AFR][1000 genomes]
rs7010172	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7821542	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7823419	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7831198	0.96[AFR][1000 genomes]
rs9657080	1.00[YRI][hapmap];0.96[AFR][1000 genomes]

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	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48374800-48407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:48384400-48396000	Weak transcription	Primary T cells from cord blood	blood
3	chr8:48384600-48396800	Weak transcription	Fetal Brain Male	brain
4	chr8:48385000-48397000	Weak transcription	Colonic Mucosa	Colon
5	chr8:48388800-48396400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:48389000-48395200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:48389000-48396800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:48389200-48396200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:48389200-48397000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:48390800-48396800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:48391000-48395400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:48391000-48396200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:48391200-48396600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:48391200-48397000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:48391200-48397000	Weak transcription	Gastric	stomach
16	chr8:48391200-48399000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:48391800-48396200	Enhancers	Fetal Lung	lung
18	chr8:48392200-48396600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:48392200-48396800	Weak transcription	Fetal Thymus	thymus
20	chr8:48392200-48398400	Weak transcription	Brain Substantia Nigra	brain
21	chr8:48392200-48403000	Weak transcription	Brain Angular Gyrus	brain
22	chr8:48392400-48396600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:48392400-48396600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:48392400-48396800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:48392400-48397400	Weak transcription	Esophagus	oesophagus
26	chr8:48392400-48398600	Weak transcription	Right Ventricle	heart
27	chr8:48392600-48397000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:48392600-48402000	Weak transcription	HepG2	liver
29	chr8:48392600-48402400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:48392800-48396800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:48393000-48397400	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:48393400-48396000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:48393400-48396000	Weak transcription	A549	lung
34	chr8:48393400-48396800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:48393400-48397000	Weak transcription	Aorta	Aorta
36	chr8:48393400-48397400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:48393400-48398800	Weak transcription	K562	blood
38	chr8:48393400-48400200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:48393400-48410400	Weak transcription	Ovary	ovary
40	chr8:48393600-48396400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:48393600-48396400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:48393600-48396600	Weak transcription	Fetal Intestine Small	intestine
43	chr8:48393600-48396600	Weak transcription	NHEK	skin
44	chr8:48393600-48396800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:48393600-48396800	Weak transcription	Fetal Intestine Large	intestine
46	chr8:48393600-48396800	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:48393600-48397000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:48393600-48397400	Weak transcription	NH-A	brain
49	chr8:48393600-48398600	Weak transcription	Fetal Heart	heart
50	chr8:48393600-48399000	Weak transcription	HMEC	breast

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