Variant report

Variant	rs504683
Chromosome Location	chr11:75051233-75051234
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75039325..75041629-chr11:75049087..75051894,3	K562	blood:
2	chr11:75050501..75052365-chr11:75057114..75058725,2	MCF-7	breast:
3	chr11:75043115..75045254-chr11:75048636..75051434,3	MCF-7	breast:
4	chr11:75050760..75054714-chr11:75085548..75088941,3	MCF-7	breast:
5	chr11:74986561..74988173-chr11:75048829..75051587,2	MCF-7	breast:
6	chr11:75050186..75052679-chr11:75081484..75083245,2	MCF-7	breast:
7	chr11:75050489..75051483-chr11:75095202..75095986,8	MCF-7	breast:
8	chr11:75050045..75052977-chr11:75131615..75134854,3	MCF-7	breast:
9	chr11:75047858..75058236-chr11:75058819..75065197,25	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2851459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475161	0.82[CEU][hapmap]
rs539342	0.92[ASN][1000 genomes]
rs549085	0.90[ASN][1000 genomes]
rs561923	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs562946	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs566567	0.82[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs569796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629991	0.82[CEU][hapmap]
rs663235	0.81[CEU][hapmap]
rs665702	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs672534	0.81[CEU][hapmap]

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	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
2	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
3	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong 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	66 gene(s)	inside rSNPs	diseases
4	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75039400-75060800	Enhancers	Placenta	Placenta
2	chr11:75042000-75052000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:75043200-75051600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr11:75043400-75052400	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr11:75043800-75054000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:75044200-75055400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:75044200-75055600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:75044200-75055800	Enhancers	Brain Hippocampus Middle	brain
9	chr11:75044200-75056600	Enhancers	Esophagus	oesophagus
10	chr11:75044200-75056800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:75044200-75060400	Genic enhancers	Fetal Stomach	stomach
12	chr11:75044400-75055200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:75044400-75056400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr11:75044400-75057200	Enhancers	Fetal Muscle Trunk	muscle
15	chr11:75044600-75051400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:75044600-75051800	Enhancers	Brain Cingulate Gyrus	brain
17	chr11:75045600-75051400	Enhancers	A549	lung
18	chr11:75045800-75051400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:75046400-75061200	Enhancers	Fetal Thymus	thymus
20	chr11:75046800-75051600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:75046800-75060200	Enhancers	Brain Anterior Caudate	brain
22	chr11:75046800-75061600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr11:75047000-75051400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr11:75047000-75054400	Enhancers	Brain Substantia Nigra	brain
25	chr11:75047000-75059600	Enhancers	Pancreas	Pancrea
26	chr11:75047000-75061200	Enhancers	Left Ventricle	heart
27	chr11:75047000-75061200	Enhancers	Stomach Mucosa	stomach
28	chr11:75047200-75060400	Enhancers	Brain Angular Gyrus	brain
29	chr11:75047400-75052200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:75047400-75052200	Enhancers	NHEK	skin
31	chr11:75047400-75055400	Enhancers	Fetal Intestine Large	intestine
32	chr11:75047600-75051400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:75047600-75051400	Enhancers	HUVEC	blood vessel
34	chr11:75047600-75054400	Enhancers	Gastric	stomach
35	chr11:75047600-75056000	Enhancers	Fetal Muscle Leg	muscle
36	chr11:75047600-75060600	Enhancers	Right Atrium	heart
37	chr11:75047800-75052200	Enhancers	Osteobl	bone
38	chr11:75047800-75053200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:75047800-75053200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:75047800-75053200	Enhancers	Fetal Heart	heart
41	chr11:75047800-75054400	Enhancers	Right Ventricle	heart
42	chr11:75047800-75060600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:75047800-75060800	Genic enhancers	Fetal Intestine Small	intestine
44	chr11:75048000-75052200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:75048000-75053400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:75048000-75053400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:75048000-75055600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:75048000-75055800	Enhancers	Lung	lung
49	chr11:75048000-75058200	Enhancers	Primary B cells from cord blood	blood
50	chr11:75048000-75061600	Enhancers	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links