Variant report

Variant	rs601300
Chromosome Location	chr11:86262617-86262618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs147045	0.81[CHB][hapmap]
rs1841066	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs2279046	0.81[CHB][hapmap]
rs2446228	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs2446229	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs498981	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs503583	0.91[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs509870	0.83[ASN][1000 genomes]
rs511884	0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs525764	0.85[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs535652	0.91[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs553351	0.86[CHB][hapmap];0.94[CHD][hapmap]
rs582976	0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs588287	0.91[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs589174	0.86[CHB][hapmap]
rs589368	0.91[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs590401	0.86[CHB][hapmap]
rs593853	0.86[CHB][hapmap]
rs594106	0.83[ASN][1000 genomes]
rs596056	0.81[CHB][hapmap]
rs597296	0.91[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs601824	0.86[CHB][hapmap]
rs603890	0.83[ASN][1000 genomes]
rs605251	0.86[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs605618	0.91[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs609848	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs610842	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs612163	0.91[CHB][hapmap];0.88[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs616018	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs618513	0.86[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs61904415	0.83[ASN][1000 genomes]
rs619195	0.91[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs623478	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs624843	0.86[CHB][hapmap]
rs624870	0.95[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs628406	0.91[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs634509	0.81[CHB][hapmap]
rs636485	0.86[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs638041	0.91[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs640310	0.91[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs643950	0.81[ASN][1000 genomes]
rs646798	0.83[ASN][1000 genomes]
rs648798	0.85[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs651089	0.86[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs653779	0.91[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs655868	0.84[ASN][1000 genomes]
rs655934	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs659405	0.86[CHB][hapmap]
rs661083	0.83[ASN][1000 genomes]
rs661972	0.83[ASN][1000 genomes]
rs662361	0.81[CHB][hapmap]
rs663262	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs668270	0.83[ASN][1000 genomes]
rs668272	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs674250	0.83[ASN][1000 genomes]
rs677700	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs679076	0.86[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap]
rs680846	0.83[ASN][1000 genomes]
rs681158	0.83[ASN][1000 genomes]
rs687804	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs689039	0.82[ASN][1000 genomes]
rs7130920	0.86[CHB][hapmap];0.82[CHD][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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86258800-86263400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:86258800-86263400	Enhancers	Fetal Brain Male	brain
3	chr11:86258800-86263400	Enhancers	Psoas Muscle	Psoas
4	chr11:86258800-86264600	Enhancers	Right Atrium	heart
5	chr11:86259000-86263200	Weak transcription	Brain Germinal Matrix	brain
6	chr11:86259200-86264400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:86259600-86263000	Weak transcription	Fetal Thymus	thymus
8	chr11:86259600-86269800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:86259600-86270400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:86259600-86270800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:86259800-86270800	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:86260000-86262800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:86260000-86263400	Weak transcription	Fetal Stomach	stomach
14	chr11:86260000-86264000	Enhancers	Fetal Intestine Small	intestine
15	chr11:86260000-86266200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:86260000-86268800	Weak transcription	Fetal Kidney	kidney
17	chr11:86260000-86270200	Weak transcription	Brain Angular Gyrus	brain
18	chr11:86260000-86270200	Weak transcription	Brain Substantia Nigra	brain
19	chr11:86260200-86264000	Weak transcription	Brain Anterior Caudate	brain
20	chr11:86260400-86263400	Enhancers	Colon Smooth Muscle	Colon
21	chr11:86260400-86264200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:86260800-86265000	Enhancers	Fetal Intestine Large	intestine
23	chr11:86260800-86265000	Enhancers	Left Ventricle	heart
24	chr11:86260800-86265000	Enhancers	Pancreas	Pancrea
25	chr11:86261000-86264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:86261000-86265600	Weak transcription	Fetal Brain Female	brain
27	chr11:86261200-86270800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:86261400-86264200	Enhancers	Lung	lung
29	chr11:86261400-86264400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr11:86261400-86264400	Enhancers	Spleen	Spleen
31	chr11:86261600-86263000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:86261600-86263200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:86261600-86263200	Enhancers	Gastric	stomach
34	chr11:86261600-86263200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:86261600-86263200	Enhancers	NHLF	lung
36	chr11:86261600-86263400	Enhancers	NH-A	brain
37	chr11:86261600-86265000	Enhancers	Right Ventricle	heart
38	chr11:86261800-86263400	Enhancers	Osteobl	bone
39	chr11:86261800-86264200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:86261800-86265000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:86262000-86263200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:86262000-86263200	Enhancers	Adipose Nuclei	Adipose
43	chr11:86262000-86263200	Enhancers	Small Intestine	intestine
44	chr11:86262000-86263400	Enhancers	Hela-S3	cervix
45	chr11:86262000-86263800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:86262000-86264800	Enhancers	Stomach Mucosa	stomach
47	chr11:86262200-86263000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:86262200-86263000	Flanking Active TSS	HUVEC	blood vessel
49	chr11:86262200-86263200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:86262200-86263200	Enhancers	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links