Variant report

Variant	rs16893366
Chromosome Location	chr8:91654549-91654550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr8:91654502-91655159	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:91651930-91659303	MCF-7	breast:	n/a	n/a
3	USF2	chr8:91654489-91654566	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:91654051..91656885-chr8:91803019..91806273,4	MCF-7	breast:
2	chr8:91654238..91656466-chr8:91898414..91902321,3	MCF-7	breast:
3	chr8:91653540..91656169-chr8:91952201..91954392,2	K562	blood:

Variant related genes	Relation type
ENSG00000246792	TF binding region
ENSG00000180694	Chromatin interaction
ENSG00000123119	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10046610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10046655	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10046723	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092379	1.00[CEU][hapmap]
rs10102274	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10504897	1.00[CEU][hapmap]
rs10504899	1.00[CEU][hapmap]
rs10504900	1.00[CEU][hapmap]
rs11986094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11989315	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11994308	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905044	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905150	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16905331	1.00[CEU][hapmap]
rs28394575	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4265146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339599	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500048	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471253	1.00[CEU][hapmap]
rs6984689	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs6994987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011691	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7011692	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7013400	1.00[CEU][hapmap]
rs7017389	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73301574	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301581	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301593	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305518	0.93[EUR][1000 genomes]
rs7815900	1.00[CEU][hapmap]
rs7823529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827745	chr8:91623737-91660193	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91624000-91654800	Weak transcription	Pancreas	Pancrea
2	chr8:91629200-91654600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:91630600-91655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:91630600-91656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:91631000-91654800	Weak transcription	NH-A	brain
6	chr8:91632000-91656800	Weak transcription	Left Ventricle	heart
7	chr8:91632800-91654600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:91638200-91654800	Weak transcription	Placenta	Placenta
9	chr8:91640800-91654600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:91641000-91654600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:91641600-91654800	Weak transcription	Primary T cells from cord blood	blood
12	chr8:91643200-91655400	Weak transcription	Brain Germinal Matrix	brain
13	chr8:91643200-91657200	Weak transcription	Gastric	stomach
14	chr8:91645800-91654800	Weak transcription	HSMM	muscle
15	chr8:91647800-91656600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:91649000-91655600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:91650600-91654600	Weak transcription	Right Atrium	heart
18	chr8:91650600-91654800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:91650600-91654800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:91650600-91655000	Weak transcription	HMEC	breast
21	chr8:91650600-91655400	Weak transcription	Esophagus	oesophagus
22	chr8:91650800-91654800	Weak transcription	Aorta	Aorta
23	chr8:91650800-91655000	Weak transcription	Spleen	Spleen
24	chr8:91650800-91656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:91651400-91655000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:91651400-91655400	Weak transcription	Right Ventricle	heart
27	chr8:91652200-91654800	Enhancers	Adipose Nuclei	Adipose
28	chr8:91652200-91654800	Enhancers	Brain Angular Gyrus	brain
29	chr8:91652200-91654800	Enhancers	Hela-S3	cervix
30	chr8:91652200-91655000	Enhancers	Brain Cingulate Gyrus	brain
31	chr8:91652200-91655600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:91652200-91656000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
33	chr8:91652200-91656600	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:91652200-91659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr8:91652400-91655200	Transcr. at gene 5' and 3'	K562	blood
36	chr8:91652400-91656400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr8:91652600-91654600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:91652600-91654800	Weak transcription	NHDF-Ad	bronchial
39	chr8:91652600-91655000	Weak transcription	Fetal Kidney	kidney
40	chr8:91652600-91655800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
41	chr8:91652800-91654800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:91653000-91654800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr8:91653000-91656400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr8:91653200-91655000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:91653200-91655000	Weak transcription	NHLF	lung
46	chr8:91653200-91656000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
47	chr8:91653200-91656200	Enhancers	Small Intestine	intestine
48	chr8:91653400-91655000	Enhancers	Colon Smooth Muscle	Colon
49	chr8:91653400-91655000	Enhancers	Ovary	ovary
50	chr8:91653400-91655000	Enhancers	Rectal Smooth Muscle	rectum

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