Variant report

Variant	rs478807
Chromosome Location	chr11:66441762-66441763
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66241796..66244784-chr11:66439575..66442530,2	MCF-7	breast:
2	chr11:66434307..66435937-chr11:66439617..66441994,2	MCF-7	breast:
3	chr11:66383944..66385566-chr11:66441270..66442847,2	K562	blood:
4	chr11:66441690..66444071-chr11:66620456..66623383,2	K562	blood:
5	chr11:66434858..66442780-chr11:66443506..66446731,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239306	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000258297	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs3782079	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs477335	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs479261	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs519380	0.82[ASN][1000 genomes]
rs527550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55662252	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56146874	0.83[AFR][1000 genomes]
rs563344	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56680801	0.86[AMR][1000 genomes]
rs56848911	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57206977	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57220229	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs573673	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs575797	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59057733	0.83[AFR][1000 genomes]
rs59792175	0.83[AFR][1000 genomes]
rs60084486	0.82[ASN][1000 genomes]
rs60395535	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61675228	0.83[AFR][1000 genomes]
rs623022	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs639938	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs645307	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs648491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs744465	0.81[AMR][1000 genomes];0.84[EUR][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	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv518919	chr11:66409409-66468469	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66411800-66442800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66413000-66442600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:66414800-66442600	Weak transcription	Small Intestine	intestine
4	chr11:66420600-66443800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:66427600-66443200	Weak transcription	Stomach Mucosa	stomach
6	chr11:66434000-66443800	Weak transcription	Colonic Mucosa	Colon
7	chr11:66434000-66444600	Weak transcription	Aorta	Aorta
8	chr11:66434800-66442800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:66435400-66442600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:66435800-66442400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:66436000-66443200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:66436000-66444400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:66436200-66442400	Weak transcription	NH-A	brain
14	chr11:66436400-66442400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:66436400-66442400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:66436400-66442600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:66436400-66442800	Weak transcription	Right Atrium	heart
18	chr11:66436600-66442200	Weak transcription	Ovary	ovary
19	chr11:66436600-66442400	Weak transcription	GM12878-XiMat	blood
20	chr11:66436600-66442600	Weak transcription	Brain Anterior Caudate	brain
21	chr11:66436600-66442600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:66436600-66442600	Weak transcription	Spleen	Spleen
23	chr11:66436600-66442600	Weak transcription	HSMMtube	muscle
24	chr11:66436600-66443400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:66436600-66443800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:66436600-66443800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:66436600-66443800	Weak transcription	Gastric	stomach
28	chr11:66436600-66443800	Weak transcription	Pancreas	Pancrea
29	chr11:66436800-66441800	Weak transcription	Lung	lung
30	chr11:66436800-66442200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:66436800-66442400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:66436800-66442400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:66436800-66442400	Weak transcription	Fetal Intestine Small	intestine
34	chr11:66436800-66442600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:66436800-66442600	Weak transcription	Adipose Nuclei	Adipose
36	chr11:66436800-66442600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:66436800-66442600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:66436800-66442600	Weak transcription	Left Ventricle	heart
39	chr11:66436800-66442600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:66436800-66442600	Weak transcription	HUVEC	blood vessel
41	chr11:66436800-66442800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:66436800-66442800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:66436800-66443600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:66436800-66443800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:66436800-66443800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:66436800-66443800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:66436800-66443800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:66436800-66443800	Weak transcription	Esophagus	oesophagus
49	chr11:66436800-66443800	Weak transcription	HMEC	breast
50	chr11:66436800-66444000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links