Variant report

Variant	rs12792726
Chromosome Location	chr11:63636181-63636182
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63603344..63615182-chr11:63634321..63647771,46	MCF-7	breast:
2	chr11:63604982..63606649-chr11:63633551..63637040,3	K562	blood:
3	chr11:63610591..63619595-chr11:63634759..63639809,13	MCF-7	breast:
4	chr11:63604963..63609785-chr11:63634052..63642181,26	MCF-7	breast:
5	chr11:63604248..63606622-chr11:63634947..63637040,3	K562	blood:

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10751001	0.95[EUR][1000 genomes]
rs10897456	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10897459	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231623	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11231628	0.92[EUR][1000 genomes]
rs11231637	0.90[ASN][1000 genomes]
rs11231643	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12418000	0.95[ASN][1000 genomes]
rs12786124	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12793201	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12794404	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1486936	0.90[ASN][1000 genomes]
rs224173	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2318126	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3019785	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3850943	0.96[EUR][1000 genomes]
rs4143327	0.93[ASN][1000 genomes]
rs449047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs454474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4963433	0.96[EUR][1000 genomes]
rs4980530	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61886128	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7105288	0.90[ASN][1000 genomes]
rs7121067	0.90[ASN][1000 genomes]
rs7928919	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7939416	0.85[EUR][1000 genomes]
rs7950543	0.89[AFR][1000 genomes]
rs928948	0.94[EUR][1000 genomes]

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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 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	chr11:63619200-63638000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:63619400-63639400	Weak transcription	Ovary	ovary
3	chr11:63619600-63639200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:63626400-63637800	Weak transcription	NH-A	brain
5	chr11:63628800-63644200	Genic enhancers	Fetal Intestine Small	intestine
6	chr11:63629600-63638800	Enhancers	Stomach Mucosa	stomach
7	chr11:63629800-63636200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:63630000-63640000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:63630200-63636800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr11:63630600-63642200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr11:63630800-63637000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr11:63630800-63637400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:63630800-63637600	Weak transcription	Aorta	Aorta
14	chr11:63630800-63639400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:63630800-63641600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:63632200-63637400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr11:63632400-63637000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:63632400-63638800	Genic enhancers	Fetal Thymus	thymus
19	chr11:63632400-63642600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:63632400-63643400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:63632400-63643600	Enhancers	Pancreas	Pancrea
22	chr11:63632600-63636200	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:63632600-63637200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:63632600-63639400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr11:63632600-63640800	Enhancers	Placenta	Placenta
26	chr11:63632800-63636200	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:63633000-63639200	Weak transcription	HepG2	liver
28	chr11:63633000-63639800	Enhancers	Fetal Heart	heart
29	chr11:63633000-63646800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:63633000-63646800	Weak transcription	Fetal Brain Female	brain
31	chr11:63633200-63644800	Enhancers	Brain Substantia Nigra	brain
32	chr11:63633400-63636600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr11:63633600-63637200	Weak transcription	NHLF	lung
34	chr11:63634000-63637000	Weak transcription	A549	lung
35	chr11:63634200-63636200	Enhancers	Primary T cells from cord blood	blood
36	chr11:63634200-63637400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:63634200-63637400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:63634200-63637400	Weak transcription	Fetal Brain Male	brain
39	chr11:63634200-63642400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr11:63634400-63636400	Genic enhancers	Left Ventricle	heart
41	chr11:63634400-63637200	Enhancers	Gastric	stomach
42	chr11:63634600-63636200	Weak transcription	Liver	Liver
43	chr11:63634600-63636400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:63634600-63636400	Weak transcription	Fetal Lung	lung
45	chr11:63634600-63636800	Genic enhancers	Primary B cells from cord blood	blood
46	chr11:63634600-63637000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:63634600-63637200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr11:63634600-63637200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:63634600-63638200	Genic enhancers	GM12878-XiMat	blood
50	chr11:63634800-63636200	Strong transcription	K562	blood

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