Variant report

Variant	rs16905044
Chromosome Location	chr8:91654225-91654226
allele	C/G
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	NRF1	chr8:91654196-91654332	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:91651930-91659303	MCF-7	breast:	n/a	n/a
3	EBF1	chr8:91654140-91654323	GM12878	blood:	n/a	n/a
4	USF2	chr8:91654203-91654246	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:91654051..91656885-chr8:91803019..91806273,4	MCF-7	breast:
2	chr8:91651654..91654414-chr8:91722903..91725467,2	K562	blood:
3	chr8:91653540..91656169-chr8:91952201..91954392,2	K562	blood:

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10046610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10046655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10046723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102274	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103195	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11986094	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11989315	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11994308	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893366	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905150	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28394575	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4265146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571698	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984689	0.83[EUR][1000 genomes]
rs6994987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011692	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
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	0.86[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]
rs7823529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297885	0.82[AMR][1000 genomes];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:113 , 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	chr8:91629600-91654400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:91630600-91654400	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:91630600-91655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:91630600-91656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:91630800-91654400	Weak transcription	Fetal Intestine Large	intestine
8	chr8:91631000-91654800	Weak transcription	NH-A	brain
9	chr8:91631200-91654400	Weak transcription	Psoas Muscle	Psoas
10	chr8:91632000-91656800	Weak transcription	Left Ventricle	heart
11	chr8:91632800-91654600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:91638200-91654800	Weak transcription	Placenta	Placenta
13	chr8:91640800-91654600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:91641000-91654600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:91641600-91654800	Weak transcription	Primary T cells from cord blood	blood
16	chr8:91643200-91655400	Weak transcription	Brain Germinal Matrix	brain
17	chr8:91643200-91657200	Weak transcription	Gastric	stomach
18	chr8:91645800-91654800	Weak transcription	HSMM	muscle
19	chr8:91647800-91656600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:91649000-91655600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:91650600-91654600	Weak transcription	Right Atrium	heart
22	chr8:91650600-91654800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:91650600-91654800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:91650600-91655000	Weak transcription	HMEC	breast
25	chr8:91650600-91655400	Weak transcription	Esophagus	oesophagus
26	chr8:91650800-91654800	Weak transcription	Aorta	Aorta
27	chr8:91650800-91655000	Weak transcription	Spleen	Spleen
28	chr8:91650800-91656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:91651400-91655000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:91651400-91655400	Weak transcription	Right Ventricle	heart
31	chr8:91652200-91654800	Enhancers	Adipose Nuclei	Adipose
32	chr8:91652200-91654800	Enhancers	Brain Angular Gyrus	brain
33	chr8:91652200-91654800	Enhancers	Hela-S3	cervix
34	chr8:91652200-91655000	Enhancers	Brain Cingulate Gyrus	brain
35	chr8:91652200-91655600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:91652200-91656000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
37	chr8:91652200-91656600	Enhancers	Primary B cells from peripheral blood	blood
38	chr8:91652200-91659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr8:91652400-91655200	Transcr. at gene 5' and 3'	K562	blood
40	chr8:91652400-91656400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr8:91652600-91654600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:91652600-91654800	Weak transcription	NHDF-Ad	bronchial
43	chr8:91652600-91655000	Weak transcription	Fetal Kidney	kidney
44	chr8:91652600-91655800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
45	chr8:91652800-91654800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:91653000-91654800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr8:91653000-91656400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr8:91653200-91654400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:91653200-91654400	Weak transcription	Fetal Stomach	stomach
50	chr8:91653200-91655000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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