Variant report

Variant	rs11985857
Chromosome Location	chr8:124252092-124252093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:124251923-124252179	HepG2	liver:	n/a	n/a
2	MXI1	chr8:124251987-124254070	SK-N-SH	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124251904..124255350-chr8:124283702..124287510,7	MCF-7	breast:
2	chr8:124250772..124255194-chr8:124284813..124288648,11	K562	blood:
3	chr8:124251863..124253465-chr8:124274912..124276730,2	MCF-7	breast:
4	chr8:124240001..124242764-chr8:124251820..124253433,2	K562	blood:
5	chr8:124251855..124253716-chr8:124284789..124287618,4	MCF-7	breast:
6	chr8:124251434..124255040-chr8:124407167..124409699,3	MCF-7	breast:
7	chr8:124242969..124246444-chr8:124250871..124254572,7	K562	blood:
8	chr8:124250772..124256316-chr8:124284832..124288905,10	K562	blood:
9	chr8:124248139..124250303-chr8:124251781..124253671,4	MCF-7	breast:
10	chr8:124193513..124196464-chr8:124251453..124254770,3	MCF-7	breast:

No data

Variant related genes	Relation type
C8orf76	TF binding region
ENSG00000147689	Chromatin interaction
ENSG00000189376	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000243498	Chromatin interaction
ENSG00000222607	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000253258	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10104148	0.87[AFR][1000 genomes]
rs11989904	0.91[AFR][1000 genomes]
rs16898172	0.81[AFR][1000 genomes]
rs1869248	0.95[AFR][1000 genomes]
rs5001348	0.81[AFR][1000 genomes]
rs6990003	0.82[AFR][1000 genomes]
rs7003464	0.91[AFR][1000 genomes]
rs7009541	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124220200-124252800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:124229000-124252200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:124234600-124252400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:124235200-124252400	Weak transcription	Psoas Muscle	Psoas
5	chr8:124242000-124252400	Weak transcription	Fetal Kidney	kidney
6	chr8:124247400-124252400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:124248000-124252400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:124248200-124252200	Weak transcription	Right Atrium	heart
9	chr8:124248400-124252400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:124248400-124252400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:124248600-124252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:124248600-124252200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:124248600-124252200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:124248600-124252400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:124248600-124252400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:124248600-124252400	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:124248600-124252400	Weak transcription	Brain Substantia Nigra	brain
18	chr8:124248600-124252400	Weak transcription	NH-A	brain
19	chr8:124249400-124252400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:124249400-124252400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:124249600-124252400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:124249600-124252400	Weak transcription	Aorta	Aorta
23	chr8:124249600-124252400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:124249600-124252400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:124249600-124252400	Weak transcription	Lung	lung
26	chr8:124249600-124252600	Weak transcription	Esophagus	oesophagus
27	chr8:124249600-124252800	Weak transcription	Pancreas	Pancrea
28	chr8:124249800-124252400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:124250000-124252400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:124250200-124252200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:124250200-124252200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:124250200-124252400	Weak transcription	Fetal Intestine Large	intestine
33	chr8:124250200-124252400	Weak transcription	Fetal Intestine Small	intestine
34	chr8:124250200-124252600	Weak transcription	Gastric	stomach
35	chr8:124250200-124252600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:124250200-124252800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:124250200-124253000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:124250600-124252200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:124250600-124252200	Weak transcription	Fetal Stomach	stomach
40	chr8:124250600-124252400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:124250600-124252400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr8:124250600-124252400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr8:124250600-124252400	Weak transcription	HSMMtube	muscle
44	chr8:124250800-124252400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:124250800-124252400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr8:124250800-124252400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:124250800-124252400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:124250800-124252400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:124250800-124252600	Enhancers	Small Intestine	intestine
50	chr8:124251000-124252400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links