Variant report

Variant	rs568894
Chromosome Location	chr8:102526650-102526651
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102493917..102496227-chr8:102526036..102528437,2	K562	blood:
2	chr8:102525583..102527812-chr8:102595474..102597221,3	MCF-7	breast:
3	chr8:102381669..102384305-chr8:102526408..102528003,2	MCF-7	breast:
4	chr2:238395194..238397049-chr8:102525834..102528542,2	MCF-7	breast:
5	chr8:102326841..102405579-chr8:102488885..102536287,493	MCF-7	breast:
6	chr8:102526116..102528056-chr8:102563219..102565091,2	MCF-7	breast:
7	chr8:102516026..102516954-chr8:102526523..102527296,3	MCF-7	breast:
8	chr8:102421050..102423746-chr8:102526525..102529397,2	MCF-7	breast:
9	chr8:102516026..102516793-chr8:102526276..102527296,5	MCF-7	breast:
10	chr8:102525449..102527790-chr8:102621194..102623795,2	MCF-7	breast:
11	chr8:102524405..102527812-chr8:102618321..102621883,4	MCF-7	breast:
12	chr8:102343773..102345760-chr8:102525167..102527798,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228224	Chromatin interaction
ENSG00000115648	Chromatin interaction
ENSG00000253644	Chromatin interaction
ENSG00000254063	Chromatin interaction
ENSG00000271560	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16867800	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2847730	0.80[ASN][1000 genomes]
rs475304	0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs509390	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs514588	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs515622	1.00[JPT][hapmap]
rs523244	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs534285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs537658	0.82[JPT][hapmap]
rs541154	0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs541226	0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs546630	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs560043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs561626	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567389	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589919	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs624013	1.00[JPT][hapmap]
rs680890	1.00[JPT][hapmap]
rs687399	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs687909	0.80[ASN][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	nsv1024652	chr8:101802121-102587124	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
2	nsv539699	chr8:101802121-102587124	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102525200-102527600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:102525800-102527000	Enhancers	Pancreas	Pancrea
3	chr8:102526000-102527000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:102526000-102527200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr8:102526000-102527200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:102526000-102527200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:102526000-102527200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:102526000-102528000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:102526000-102528400	Enhancers	Ovary	ovary
10	chr8:102526200-102526800	Enhancers	Colon Smooth Muscle	Colon
11	chr8:102526200-102526800	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr8:102526200-102527000	Enhancers	HMEC	breast
13	chr8:102526200-102527200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:102526200-102527400	Enhancers	Fetal Kidney	kidney
15	chr8:102526200-102527800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:102526200-102527800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:102526200-102527800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:102526200-102527800	Enhancers	Gastric	stomach
19	chr8:102526200-102528000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:102526200-102528200	Enhancers	Fetal Lung	lung
21	chr8:102526200-102528200	Enhancers	Stomach Mucosa	stomach
22	chr8:102526400-102526800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:102526400-102526800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr8:102526400-102527000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:102526400-102527000	Enhancers	NHEK	skin
26	chr8:102526400-102527200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr8:102526400-102527400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:102526400-102527600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:102526400-102528200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr8:102526400-102528200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr8:102526600-102526800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:102526600-102527000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr8:102526600-102527000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:102526600-102527000	Enhancers	Aorta	Aorta
35	chr8:102526600-102527000	Enhancers	Liver	Liver
36	chr8:102526600-102527000	Enhancers	Fetal Muscle Trunk	muscle
37	chr8:102526600-102527000	Enhancers	Lung	lung
38	chr8:102526600-102527200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:102526600-102527200	Enhancers	Fetal Intestine Large	intestine
40	chr8:102526600-102527200	Enhancers	Fetal Intestine Small	intestine
41	chr8:102526600-102527200	Enhancers	Rectal Smooth Muscle	rectum
42	chr8:102526600-102527200	Enhancers	GM12878-XiMat	blood
43	chr8:102526600-102528400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:102526600-102528400	Enhancers	A549	lung
45	chr8:102526600-102529000	Enhancers	Duodenum Mucosa	Duodenum

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