Variant report

Variant	rs460633
Chromosome Location	chr11:72336021-72336022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72324405..72326702-chr11:72335643..72338443,2	K562	blood:
2	chr11:72325202..72330805-chr11:72334238..72338443,6	K562	blood:
3	chr11:72334834..72339078-chr11:72340923..72346253,6	K562	blood:
4	chr11:72329305..72334052-chr11:72334284..72337478,5	K562	blood:
5	chr11:72335997..72337699-chr11:72363120..72365299,2	K562	blood:

Variant related genes	Relation type
ENSG00000272036	Chromatin interaction
ENSG00000251919	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1038377	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898861	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs151449	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs341038	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs341050	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs342321	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs366068	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3781923	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3781926	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs401999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs455631	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs458437	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs459309	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs459546	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs464853	0.93[ASN][1000 genomes]
rs676845	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs676911	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
13	esv3441775	chr11:72333404-72337902	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1793754	chr11:72335673-72348106	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72330600-72336200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:72331400-72341200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:72331600-72336800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:72332200-72336200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:72334200-72341600	Enhancers	Right Atrium	heart
6	chr11:72334400-72338800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:72334800-72350200	Enhancers	Left Ventricle	heart
8	chr11:72335400-72337200	Enhancers	Primary hematopoietic stem cells	blood
9	chr11:72335400-72337800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:72335400-72337800	Enhancers	Gastric	stomach
11	chr11:72335400-72338000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:72335400-72338000	Enhancers	Fetal Intestine Small	intestine
13	chr11:72335400-72338400	Enhancers	HUVEC	blood vessel
14	chr11:72335400-72340000	Enhancers	Fetal Brain Female	brain
15	chr11:72335400-72340200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr11:72335400-72341200	Enhancers	Brain Anterior Caudate	brain
17	chr11:72335400-72346600	Enhancers	Brain Angular Gyrus	brain
18	chr11:72335600-72336200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:72335600-72336200	Bivalent Enhancer	HepG2	liver
20	chr11:72335600-72336200	Bivalent Enhancer	NHDF-Ad	bronchial
21	chr11:72335600-72336400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr11:72335600-72337400	Enhancers	Pancreas	Pancrea
23	chr11:72335600-72338000	Enhancers	Stomach Mucosa	stomach
24	chr11:72335600-72338200	Enhancers	Brain Cingulate Gyrus	brain
25	chr11:72335600-72338200	Enhancers	K562	blood
26	chr11:72335600-72338400	Enhancers	Fetal Lung	lung
27	chr11:72335600-72338800	Enhancers	Esophagus	oesophagus
28	chr11:72335600-72340800	Enhancers	Colon Smooth Muscle	Colon
29	chr11:72335600-72341000	Enhancers	Right Ventricle	heart
30	chr11:72335600-72341200	Enhancers	Brain Substantia Nigra	brain
31	chr11:72335600-72341200	Enhancers	Lung	lung
32	chr11:72335600-72344600	Enhancers	Rectal Smooth Muscle	rectum
33	chr11:72335600-72349400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr11:72335800-72336200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:72335800-72336400	Enhancers	Adipose Nuclei	Adipose
36	chr11:72335800-72337600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr11:72335800-72337800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr11:72335800-72338200	Enhancers	Fetal Intestine Large	intestine
39	chr11:72335800-72338200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr11:72335800-72338400	Enhancers	Colonic Mucosa	Colon
41	chr11:72335800-72342600	Enhancers	Fetal Muscle Trunk	muscle
42	chr11:72335800-72349000	Enhancers	Fetal Brain Male	brain
43	chr11:72335800-72350600	Enhancers	Brain Hippocampus Middle	brain
44	chr11:72336000-72336200	Enhancers	Primary B cells from peripheral blood	blood
45	chr11:72336000-72336200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:72336000-72336400	Genic enhancers	Brain Germinal Matrix	brain
47	chr11:72336000-72336400	Bivalent Enhancer	Placenta	Placenta
48	chr11:72336000-72336400	Flanking Active TSS	Spleen	Spleen
49	chr11:72336000-72336800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
50	chr11:72336000-72337400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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