Variant report

Variant	rs2001591
Chromosome Location	chr11:45938308-45938309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45868894..45870500-chr11:45937119..45938981,2	K562	blood:
2	chr11:45937002..45939512-chr11:45985947..45988260,2	MCF-7	breast:
3	chr11:45937934..45940310-chr17:56708373..56710113,2	MCF-7	breast:
4	chr11:45906755..45908288-chr11:45937921..45939853,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135365	Chromatin interaction
ENSG00000121653	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11038708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1533613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17847253	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35389927	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs55644523	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72902474	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72902480	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72902484	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72902492	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking 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 target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers 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 target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1807609	chr11:45915859-45940195	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv1798496	chr11:45925495-45948304	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45922600-45938400	Weak transcription	Fetal Kidney	kidney
2	chr11:45923000-45938400	Weak transcription	Right Atrium	heart
3	chr11:45934400-45938400	Weak transcription	Fetal Heart	heart
4	chr11:45934800-45938400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:45936000-45938600	Weak transcription	Psoas Muscle	Psoas
6	chr11:45936000-45938600	Weak transcription	Small Intestine	intestine
7	chr11:45936200-45938400	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr11:45936800-45938400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:45936800-45938600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:45937000-45938400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:45937000-45938400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
12	chr11:45937000-45938400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:45937000-45938400	Weak transcription	Fetal Lung	lung
14	chr11:45937000-45938400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:45937000-45938400	Weak transcription	HUVEC	blood vessel
16	chr11:45937000-45938600	Weak transcription	HSMMtube	muscle
17	chr11:45937200-45938400	Genic enhancers	Brain Substantia Nigra	brain
18	chr11:45937200-45938400	Genic enhancers	Thymus	Thymus
19	chr11:45937200-45938600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:45937200-45938600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:45937200-45938600	Weak transcription	Osteobl	bone
22	chr11:45937200-45938800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:45937200-45938800	Weak transcription	Left Ventricle	heart
24	chr11:45937400-45938800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:45937600-45938400	Enhancers	Colonic Mucosa	Colon
26	chr11:45937600-45938400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:45937600-45938600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr11:45937600-45938600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr11:45937600-45938600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr11:45937600-45938600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr11:45937600-45938600	Weak transcription	Aorta	Aorta
32	chr11:45937600-45938600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:45937600-45938800	Enhancers	Stomach Mucosa	stomach
34	chr11:45937800-45938400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:45937800-45938400	Genic enhancers	Brain Inferior Temporal Lobe	brain
36	chr11:45937800-45938400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:45937800-45938400	Genic enhancers	Duodenum Mucosa	Duodenum
38	chr11:45937800-45938400	Enhancers	Fetal Brain Female	brain
39	chr11:45937800-45938400	Enhancers	HepG2	liver
40	chr11:45937800-45938400	Genic enhancers	Monocytes-CD14+_RO01746	blood
41	chr11:45937800-45938400	Enhancers	NH-A	brain
42	chr11:45937800-45938600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:45937800-45938600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:45937800-45938600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:45937800-45938600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:45937800-45938600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:45937800-45938600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:45937800-45938600	Enhancers	Primary B cells from cord blood	blood
49	chr11:45937800-45938600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr11:45937800-45938600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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