Variant report

Variant	rs546441
Chromosome Location	chr11:120051363-120051364
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120043099..120045650-chr11:120048774..120051644,2	K562	blood:
2	chr11:120050542..120053166-chr11:120080425..120082146,2	MCF-7	breast:
3	chr11:120049376..120051724-chr11:120052135..120053974,2	K562	blood:

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12291190	0.88[ASN][1000 genomes]
rs2508491	0.95[ASN][1000 genomes]
rs2508492	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2511023	0.91[ASN][1000 genomes]
rs471776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs477337	0.80[ASN][1000 genomes]
rs481599	1.00[CEU][hapmap]
rs488615	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs490819	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504236	0.81[ASN][1000 genomes]
rs504976	0.81[ASN][1000 genomes]
rs507419	1.00[CEU][hapmap]
rs508266	1.00[CEU][hapmap]
rs513638	1.00[CEU][hapmap]
rs518863	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547897	0.95[ASN][1000 genomes]
rs548215	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs551843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs561218	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs571854	0.95[ASN][1000 genomes]
rs574563	0.95[ASN][1000 genomes]
rs579368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120043600-120057000	Weak transcription	Esophagus	oesophagus
2	chr11:120044400-120055200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:120044600-120051400	Weak transcription	Fetal Kidney	kidney
4	chr11:120044600-120051800	Weak transcription	Pancreas	Pancrea
5	chr11:120046200-120053000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:120046400-120051600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:120046800-120055800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:120048200-120055600	Enhancers	Fetal Stomach	stomach
9	chr11:120048400-120051600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:120048600-120051600	Weak transcription	Brain Substantia Nigra	brain
11	chr11:120049000-120051600	Enhancers	Fetal Lung	lung
12	chr11:120049000-120052000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:120049000-120052200	Enhancers	Fetal Muscle Leg	muscle
14	chr11:120049000-120055200	Enhancers	Fetal Muscle Trunk	muscle
15	chr11:120049200-120054400	Genic enhancers	Fetal Intestine Small	intestine
16	chr11:120049400-120051400	Enhancers	Osteobl	bone
17	chr11:120049400-120051800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:120049400-120054800	Enhancers	Brain Anterior Caudate	brain
19	chr11:120049400-120059800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:120049600-120053000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:120049600-120053800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:120049600-120057000	Weak transcription	Left Ventricle	heart
23	chr11:120049800-120051400	Weak transcription	NHDF-Ad	bronchial
24	chr11:120049800-120051400	Weak transcription	NHLF	lung
25	chr11:120049800-120052800	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:120049800-120053200	Weak transcription	Stomach Mucosa	stomach
27	chr11:120049800-120054200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:120049800-120054200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:120050000-120052400	Weak transcription	Ovary	ovary
30	chr11:120050000-120053600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:120050000-120053800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:120050200-120051400	Weak transcription	Right Atrium	heart
33	chr11:120050400-120051400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:120050400-120052000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr11:120050400-120052800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:120050400-120054200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:120050600-120051400	Weak transcription	Gastric	stomach
38	chr11:120050600-120051600	Weak transcription	Brain Angular Gyrus	brain
39	chr11:120050600-120051600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:120050800-120052000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:120051000-120051400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr11:120051000-120051400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
43	chr11:120051000-120051400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:120051000-120051400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:120051000-120051600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr11:120051000-120051600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:120051000-120051600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:120051000-120051600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:120051000-120051600	Enhancers	Small Intestine	intestine
50	chr11:120051000-120051800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links