Variant report

Variant	rs6982013
Chromosome Location	chr8:11056857-11056858
allele	G/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	CHD1	chr8:11056460-11058146	H1-hESC	embryonic stem cell:	n/a	chr8:11058055-11058065
2	WRNIP1	chr8:11056700-11057295	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:11056632-11059531	GM12891	blood:	n/a	n/a
4	RAD21	chr8:11055983-11059769	SK-N-SH	brain:	n/a	chr8:11059259-11059271 chr8:11057745-11057758 chr8:11057624-11057637
5	POLR2A	chr8:11056829-11059456	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:11056002-11059542	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:11056788-11057263	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr8:11056671-11059649	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11053117..11055085-chr8:11056263..11058043,2	K562	blood:
2	chr8:11042275..11044106-chr8:11054861..11057806,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270076	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10092793	1.00[ASN][1000 genomes]
rs10283160	1.00[ASN][1000 genomes]
rs17725044	1.00[ASN][1000 genomes]
rs2409728	0.82[EUR][1000 genomes]
rs2409744	1.00[ASN][1000 genomes]
rs2898264	1.00[ASN][1000 genomes]
rs3021496	1.00[ASN][1000 genomes]
rs4310164	1.00[ASN][1000 genomes]
rs4841512	1.00[ASN][1000 genomes]
rs57474767	1.00[ASN][1000 genomes]
rs67633260	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980506	1.00[ASN][1000 genomes]
rs6981724	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992269	1.00[ASN][1000 genomes]
rs6999875	1.00[ASN][1000 genomes]
rs7002523	1.00[ASN][1000 genomes]
rs7008855	1.00[ASN][1000 genomes]
rs7017355	1.00[ASN][1000 genomes]
rs7017362	1.00[ASN][1000 genomes]
rs73198982	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73198985	1.00[ASN][1000 genomes]
rs73530582	1.00[ASN][1000 genomes]
rs7822804	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827026	1.00[ASN][1000 genomes]
rs7831890	1.00[ASN][1000 genomes]
rs7837031	1.00[ASN][1000 genomes]
rs9987122	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11034600-11057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:11034600-11057000	Weak transcription	Esophagus	oesophagus
3	chr8:11045200-11057000	Weak transcription	Fetal Stomach	stomach
4	chr8:11050400-11057000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:11052400-11057000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:11053600-11057000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:11054200-11057000	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:11054200-11057200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:11054400-11057000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:11054800-11057000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr8:11054800-11059600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:11055000-11057800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:11055200-11057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:11055200-11057000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:11055400-11057600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr8:11055400-11059400	Active TSS	GM12878-XiMat	blood
17	chr8:11055600-11059400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:11055800-11057000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:11055800-11057400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr8:11055800-11057800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr8:11055800-11059400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:11055800-11059600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr8:11056000-11057000	Bivalent Enhancer	Fetal Brain Male	brain
24	chr8:11056000-11057400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr8:11056000-11057800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr8:11056000-11059600	Active TSS	Brain Anterior Caudate	brain
27	chr8:11056000-11059800	Active TSS	H1 Cell Line	embryonic stem cell
28	chr8:11056200-11057000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr8:11056200-11057200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr8:11056200-11057200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr8:11056200-11057200	Enhancers	Adipose Nuclei	Adipose
32	chr8:11056200-11057400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:11056200-11057400	Active TSS	HSMM	muscle
34	chr8:11056200-11057400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr8:11056200-11057600	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr8:11056200-11057600	Flanking Active TSS	NHEK	skin
37	chr8:11056200-11057800	Flanking Active TSS	HUVEC	blood vessel
38	chr8:11056200-11059400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr8:11056200-11059400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:11056200-11059600	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr8:11056200-11059600	Active TSS	Brain Angular Gyrus	brain
42	chr8:11056200-11059800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:11056200-11059800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr8:11056200-11059800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr8:11056400-11057000	Enhancers	Stomach Smooth Muscle	stomach
46	chr8:11056400-11057200	Enhancers	Colon Smooth Muscle	Colon
47	chr8:11056400-11057200	Enhancers	Fetal Intestine Large	intestine
48	chr8:11056400-11057400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:11056400-11057400	Enhancers	Primary B cells from cord blood	blood
50	chr8:11056400-11057600	Enhancers	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links