Variant report

Variant	rs7016660
Chromosome Location	chr8:48713898-48713899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48713341..48716130-chr8:48716370..48718474,2	K562	blood:
2	chr8:48710168..48712714-chr8:48712975..48714520,2	K562	blood:

Variant related genes	Relation type
ENSG00000207450	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10092880	0.81[EUR][1000 genomes]
rs10095193	0.81[EUR][1000 genomes]
rs10097508	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10097783	0.88[ASN][1000 genomes]
rs10106778	0.81[ASN][1000 genomes]
rs10109158	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10481294	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12334811	0.81[ASN][1000 genomes]
rs1487438	0.81[EUR][1000 genomes]
rs28485144	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28795698	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28809491	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3614	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4521758	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4618724	0.81[ASN][1000 genomes]
rs4873728	0.85[EUR][1000 genomes]
rs4873737	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6993483	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6995756	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7014544	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7017622	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72646396	0.90[EUR][1000 genomes]
rs72646401	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72647906	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7812323	0.81[EUR][1000 genomes]
rs7813617	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7818445	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7828380	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7830350	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7830633	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7830743	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7831196	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7832898	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838910	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839161	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7839407	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8178079	0.91[ASN][1000 genomes]
rs8178158	0.83[EUR][1000 genomes]
rs8178169	0.80[EUR][1000 genomes]
rs8178238	0.90[EUR][1000 genomes]
rs8178255	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8178258	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9918758	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][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	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr8:48684000-48721000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:48684000-48722200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:48684200-48733800	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:48684200-48733800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:48684200-48734200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:48684400-48755200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:48684400-48778800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:48684400-48861600	Strong transcription	Dnd41	blood
9	chr8:48684600-48721400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:48684800-48728200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
12	chr8:48685200-48734000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:48685600-48733600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:48687400-48719800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:48693000-48720200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr8:48693800-48751000	Weak transcription	Right Atrium	heart
17	chr8:48699800-48716400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:48699800-48720000	Strong transcription	Liver	Liver
19	chr8:48700000-48758800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr8:48700200-48720400	Strong transcription	Primary T cells from cord blood	blood
21	chr8:48701400-48729400	Weak transcription	Small Intestine	intestine
22	chr8:48703000-48720000	Strong transcription	Fetal Intestine Large	intestine
23	chr8:48703000-48733600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:48703000-48761800	Weak transcription	Stomach Mucosa	stomach
25	chr8:48703200-48720000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr8:48703200-48723800	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:48703400-48720000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:48703600-48716400	Strong transcription	Fetal Brain Female	brain
29	chr8:48703600-48720000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:48703600-48727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:48703800-48720000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:48704200-48716200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:48704200-48716600	Strong transcription	Fetal Muscle Leg	muscle
34	chr8:48704200-48719000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:48704200-48737400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:48704600-48722800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:48704600-48726200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:48704800-48756000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:48705000-48722800	Strong transcription	Fetal Intestine Small	intestine
40	chr8:48705000-48722800	Strong transcription	Fetal Stomach	stomach
41	chr8:48705400-48714600	Strong transcription	NH-A	brain
42	chr8:48705400-48716600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:48705400-48720800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:48705400-48723000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:48705400-48724000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:48706800-48716000	Strong transcription	Right Ventricle	heart
47	chr8:48708000-48718800	Strong transcription	Fetal Lung	lung
48	chr8:48708000-48720000	Strong transcription	A549	lung
49	chr8:48708200-48717400	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr8:48708600-48715200	Strong transcription	HSMM	muscle

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