Variant report

Variant	rs590616
Chromosome Location	chr11:100848475-100848476
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100848053..100849856-chr11:100874640..100877609,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10791440	0.91[ASW][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];0.82[TSI][hapmap];0.91[AFR][1000 genomes]
rs4754710	0.80[AMR][1000 genomes]
rs507858	0.89[GIH][hapmap]
rs533384	0.82[ASW][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap]
rs533571	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540089	1.00[ASN][1000 genomes]
rs540866	0.91[GIH][hapmap]
rs543146	0.91[GIH][hapmap]
rs551632	0.83[GIH][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes]
rs552490	0.91[GIH][hapmap]
rs557834	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs569336	1.00[CEU][hapmap];0.91[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs575734	0.91[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs581468	0.92[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs608149	0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs640326	0.91[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100810000-100852200	Weak transcription	Small Intestine	intestine
2	chr11:100813000-100848600	Weak transcription	A549	lung
3	chr11:100828800-100849400	Weak transcription	NHLF	lung
4	chr11:100829000-100849400	Weak transcription	HMEC	breast
5	chr11:100829600-100849400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:100830600-100858200	Weak transcription	Colonic Mucosa	Colon
7	chr11:100832200-100849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:100834400-100851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:100840400-100849200	Weak transcription	Dnd41	blood
10	chr11:100841400-100850000	Weak transcription	Pancreas	Pancrea
11	chr11:100841600-100852200	Weak transcription	Spleen	Spleen
12	chr11:100841800-100849800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:100841800-100852200	Weak transcription	Esophagus	oesophagus
14	chr11:100844000-100860200	Strong transcription	Placenta	Placenta
15	chr11:100844400-100848800	Strong transcription	HSMM	muscle
16	chr11:100844400-100850600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:100844600-100848600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:100844600-100848800	Strong transcription	Duodenum Mucosa	Duodenum
19	chr11:100844600-100849000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr11:100844600-100849800	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr11:100844600-100850000	Strong transcription	Adipose Nuclei	Adipose
22	chr11:100844600-100850400	Strong transcription	Liver	Liver
23	chr11:100844800-100849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:100844800-100863000	Weak transcription	Brain Anterior Caudate	brain
25	chr11:100845000-100848800	Strong transcription	Primary B cells from cord blood	blood
26	chr11:100845200-100848800	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:100845400-100848600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:100845400-100849000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:100845400-100849200	Weak transcription	Lung	lung
30	chr11:100845400-100850000	Weak transcription	NHDF-Ad	bronchial
31	chr11:100845600-100849200	Strong transcription	Fetal Lung	lung
32	chr11:100845800-100850800	Weak transcription	K562	blood
33	chr11:100846200-100848600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:100846200-100848600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:100846200-100848800	Strong transcription	NH-A	brain
36	chr11:100846200-100857400	Weak transcription	Fetal Brain Male	brain
37	chr11:100846400-100855200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:100846600-100848600	Strong transcription	Left Ventricle	heart
39	chr11:100846600-100849000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:100846600-100849000	Strong transcription	HSMMtube	muscle
41	chr11:100846600-100850000	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:100846800-100848600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:100846800-100851200	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:100847000-100849000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:100847000-100855200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr11:100847200-100850600	Weak transcription	Aorta	Aorta
47	chr11:100847800-100850200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
48	chr11:100847800-100852200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:100847800-100854400	Weak transcription	Right Ventricle	heart
50	chr11:100848000-100848600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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