Variant report

Variant	rs4713227
Chromosome Location	chr6:11176892-11176893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11176076..11178026-chr6:11185179..11186965,2	K562	blood:
2	chr6:11042713..11045336-chr6:11176157..11178171,2	K562	blood:
3	chr6:11173326..11175198-chr6:11176806..11178446,2	K562	blood:
4	chr6:11174406..11177480-chr6:11179223..11181539,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247925	Chromatin interaction
ENSG00000197977	Chromatin interaction
ENSG00000230314	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1007741	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10601	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13849	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1803710	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2146344	0.84[EUR][1000 genomes]
rs2208840	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2327336	0.85[EUR][1000 genomes]
rs2327338	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3035	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4711193	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4711194	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4713228	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4713229	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6456946	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6456968	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6912556	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6923556	0.85[EUR][1000 genomes]
rs6923725	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6935824	0.84[EUR][1000 genomes]
rs7746976	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7750787	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7751344	0.84[EUR][1000 genomes]
rs7755052	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7755536	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7759674	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7770498	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9283888	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9295806	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9368595	0.83[EUR][1000 genomes]
rs9468537	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9468556	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs960944	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs960945	0.83[AMR][1000 genomes];0.88[EUR][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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11162400-11185400	Weak transcription	Esophagus	oesophagus
2	chr6:11171800-11185400	Weak transcription	Gastric	stomach
3	chr6:11172800-11195000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:11173200-11179400	Weak transcription	Placenta	Placenta
5	chr6:11173200-11181600	Weak transcription	Primary T cells from cord blood	blood
6	chr6:11173200-11181600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:11173200-11182400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:11173200-11182600	Weak transcription	Primary B cells from cord blood	blood
9	chr6:11173200-11183400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr6:11173200-11183600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:11173200-11183600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:11173200-11184000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr6:11173200-11184000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:11173200-11184000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:11173200-11184000	Weak transcription	Lung	lung
16	chr6:11173200-11184000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:11173200-11184000	Weak transcription	Spleen	Spleen
18	chr6:11173200-11184200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:11173200-11184600	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:11173200-11184800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:11173200-11184800	Weak transcription	Pancreas	Pancrea
22	chr6:11173200-11185400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:11173200-11185400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:11173200-11185400	Weak transcription	Ovary	ovary
25	chr6:11173200-11187600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:11173400-11178800	Weak transcription	Brain Substantia Nigra	brain
27	chr6:11173400-11180600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:11173400-11182200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr6:11173400-11183200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:11173400-11183600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:11173400-11183600	Weak transcription	Osteobl	bone
32	chr6:11173400-11183800	Weak transcription	GM12878-XiMat	blood
33	chr6:11173400-11184000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr6:11173400-11184000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:11173400-11184000	Weak transcription	Aorta	Aorta
36	chr6:11173400-11184200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr6:11173400-11185400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:11173400-11185400	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:11173400-11185600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:11173600-11179200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:11173600-11181800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:11173600-11184000	Weak transcription	Fetal Kidney	kidney
43	chr6:11173800-11179200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:11173800-11179400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:11173800-11183600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:11173800-11184000	Weak transcription	Thymus	Thymus
47	chr6:11173800-11184600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:11174000-11177400	Weak transcription	A549	lung
49	chr6:11174000-11178400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr6:11174000-11179000	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links