Variant report

Variant	rs989191
Chromosome Location	chr6:79913956-79913957
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:79913005..79914594-chr6:79916746..79918687,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10806164	0.95[EUR][1000 genomes]
rs11752249	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12191359	0.95[EUR][1000 genomes]
rs12211094	0.95[EUR][1000 genomes]
rs13209338	0.82[GIH][hapmap]
rs13210296	0.91[GIH][hapmap]
rs13213305	0.82[GIH][hapmap]
rs1335535	0.82[LWK][hapmap];0.84[YRI][hapmap]
rs1335538	0.80[YRI][hapmap]
rs1537740	0.80[YRI][hapmap]
rs2050436	0.95[EUR][1000 genomes]
rs2322216	0.84[YRI][hapmap]
rs28360567	0.95[EUR][1000 genomes]
rs28360568	0.95[EUR][1000 genomes]
rs34043789	0.97[EUR][1000 genomes]
rs35711640	0.95[EUR][1000 genomes]
rs4555887	0.92[YRI][hapmap]
rs4706085	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.99[EUR][1000 genomes]
rs4706756	0.82[LWK][hapmap];0.84[YRI][hapmap]
rs4706757	0.99[EUR][1000 genomes]
rs4706759	0.80[YRI][hapmap]
rs4706760	0.80[YRI][hapmap]
rs4706765	0.80[YRI][hapmap]
rs66732383	0.95[EUR][1000 genomes]
rs6913297	0.88[YRI][hapmap]
rs6917165	0.84[YRI][hapmap]
rs6930131	1.00[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.99[EUR][1000 genomes]
rs7750289	0.95[EUR][1000 genomes]
rs7752593	0.80[YRI][hapmap]
rs7766859	0.95[EUR][1000 genomes]
rs9294132	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs9294133	0.91[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.99[EUR][1000 genomes]
rs9294134	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs9343882	0.95[EUR][1000 genomes]
rs9350803	0.82[LWK][hapmap];0.84[YRI][hapmap]
rs9359369	0.84[YRI][hapmap]
rs9361502	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9443654	0.92[YRI][hapmap]
rs9448657	0.91[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.97[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	nsv830706	chr6:79825910-79994878	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79883000-79925000	Weak transcription	Pancreas	Pancrea
2	chr6:79899000-79916800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:79899200-79924800	Weak transcription	Psoas Muscle	Psoas
4	chr6:79899400-79915600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:79899800-79924400	Weak transcription	Brain Anterior Caudate	brain
6	chr6:79900800-79916000	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:79901200-79927000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:79901400-79916000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:79902200-79917200	Weak transcription	Fetal Brain Male	brain
10	chr6:79902400-79919600	Weak transcription	Aorta	Aorta
11	chr6:79904200-79925000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:79906800-79935600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:79907000-79924800	Weak transcription	NH-A	brain
14	chr6:79907200-79916000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:79907200-79926000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:79907400-79916000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:79907400-79942800	Weak transcription	HSMM	muscle
18	chr6:79907600-79924400	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:79907600-79940800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:79908200-79914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:79908200-79916000	Weak transcription	Ovary	ovary
22	chr6:79908400-79914000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:79908400-79924800	Weak transcription	Fetal Heart	heart
24	chr6:79908400-79938600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:79908600-79915200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:79909000-79917400	Weak transcription	Hela-S3	cervix
27	chr6:79909600-79918400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:79909800-79914200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:79909800-79915600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:79909800-79921000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:79910000-79914000	Strong transcription	Fetal Lung	lung
32	chr6:79910200-79917800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:79910200-79919200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:79910200-79919400	Weak transcription	HSMMtube	muscle
35	chr6:79910200-79924400	Weak transcription	Brain Angular Gyrus	brain
36	chr6:79910200-79925000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:79910400-79916000	Weak transcription	Lung	lung
38	chr6:79910400-79920000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:79910600-79921800	Weak transcription	Colonic Mucosa	Colon
40	chr6:79910800-79916000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:79910800-79916000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:79910800-79924600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:79910800-79935600	Weak transcription	NHEK	skin
44	chr6:79911000-79914000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:79911000-79915000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:79911000-79917400	Strong transcription	Adipose Nuclei	Adipose
47	chr6:79911000-79928800	Weak transcription	Brain Substantia Nigra	brain
48	chr6:79911200-79914000	Strong transcription	Primary B cells from cord blood	blood
49	chr6:79911200-79914200	Weak transcription	NHLF	lung
50	chr6:79911400-79918200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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