Variant report

Variant	rs2180973
Chromosome Location	chr11:35255821-35255822
allele	G/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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:35253589..35256594-chr11:35257104..35259626,3	MCF-7	breast:
2	chr11:35251288..35252930-chr11:35253929..35256719,2	K562	blood:
3	chr11:35253382..35256689-chr11:35262779..35266276,3	K562	blood:
4	chr11:35253382..35256369-chr11:35263187..35265388,2	K562	blood:
5	chr11:35121498..35123460-chr11:35254836..35257289,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC1A2-4	chr11:35254902-35256403	NONHSAT018787

No data

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10742334	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10742335	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10742336	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10742337	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10768124	0.84[EUR][1000 genomes]
rs10836354	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11033037	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11033038	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11033052	0.83[GIH][hapmap]
rs1321677	0.82[EUR][1000 genomes]
rs2236273	0.85[EUR][1000 genomes]
rs2421823	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3818275	0.88[GIH][hapmap]
rs4755393	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4756200	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7105418	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130385	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv897216	chr11:35241989-35255821	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv897217	chr11:35241989-35257316	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv897218	chr11:35241989-35261374	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv897219	chr11:35242907-35257316	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv897220	chr11:35242907-35261374	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv897221	chr11:35242907-35265444	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv897222	chr11:35244044-35261374	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35233400-35259600	Weak transcription	Liver	Liver
2	chr11:35236800-35259600	Weak transcription	Psoas Muscle	Psoas
3	chr11:35237000-35259600	Weak transcription	HUVEC	blood vessel
4	chr11:35239200-35257600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:35241200-35259600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:35243600-35258200	Weak transcription	GM12878-XiMat	blood
7	chr11:35245400-35259600	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:35245800-35256600	Weak transcription	Small Intestine	intestine
9	chr11:35247000-35258000	Weak transcription	Colonic Mucosa	Colon
10	chr11:35247000-35263200	Weak transcription	HSMMtube	muscle
11	chr11:35247200-35257600	Weak transcription	Thymus	Thymus
12	chr11:35251000-35256000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:35251400-35259400	Weak transcription	Left Ventricle	heart
14	chr11:35251400-35259800	Weak transcription	Gastric	stomach
15	chr11:35252000-35257800	Weak transcription	Pancreas	Pancrea
16	chr11:35252200-35257400	Weak transcription	Stomach Mucosa	stomach
17	chr11:35252200-35258000	Weak transcription	Placenta	Placenta
18	chr11:35252200-35259400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:35252400-35256600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:35252400-35258600	Weak transcription	Fetal Lung	lung
21	chr11:35252400-35259400	Weak transcription	Lung	lung
22	chr11:35252600-35256600	Weak transcription	Esophagus	oesophagus
23	chr11:35252600-35257400	Weak transcription	Fetal Thymus	thymus
24	chr11:35253000-35256600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:35253000-35256800	Weak transcription	Hela-S3	cervix
26	chr11:35253000-35257400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:35253000-35258000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:35253000-35259400	Weak transcription	Adipose Nuclei	Adipose
29	chr11:35253000-35260400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:35253200-35256600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:35253200-35256600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:35253200-35256600	Weak transcription	NHEK	skin
33	chr11:35253200-35257200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:35253200-35257400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:35253200-35257600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:35253200-35257800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:35253400-35256800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:35253400-35257200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:35253400-35259400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:35253600-35256600	Weak transcription	HMEC	breast
41	chr11:35253600-35257400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr11:35253600-35257600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:35253800-35257400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:35253800-35257800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:35253800-35257800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr11:35253800-35257800	Weak transcription	Osteobl	bone
47	chr11:35253800-35258000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:35254000-35256000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:35254000-35259400	Weak transcription	Brain Substantia Nigra	brain
50	chr11:35254400-35256800	Weak transcription	NH-A	brain

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