Variant report

Variant	rs7952003
Chromosome Location	chr11:63632884-63632885
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63607750..63611534-chr11:63627673..63634127,5	MCF-7	breast:
2	chr11:63628759..63635867-chr11:63636847..63643133,8	K562	blood:
3	chr11:63628257..63633019-chr11:63633939..63639801,7	MCF-7	breast:
4	chr11:63631966..63634780-chr11:63636847..63639729,3	K562	blood:

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10897460	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11231632	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11231634	1.00[EUR][1000 genomes]
rs11231665	0.85[YRI][hapmap]
rs11231673	0.90[YRI][hapmap]
rs12099085	0.84[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12271959	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12277386	1.00[EUR][1000 genomes]
rs12277838	1.00[EUR][1000 genomes]
rs12288290	1.00[EUR][1000 genomes]
rs12291042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12295918	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13377315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17403349	0.82[ASW][hapmap];0.81[LWK][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs320110	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs320115	1.00[TSI][hapmap]
rs57219930	1.00[EUR][1000 genomes]
rs57864399	1.00[EUR][1000 genomes]
rs58678024	1.00[EUR][1000 genomes]
rs59423787	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59642000	1.00[EUR][1000 genomes]
rs60107756	1.00[EUR][1000 genomes]
rs61475860	1.00[EUR][1000 genomes]
rs684865	1.00[TSI][hapmap]
rs7110433	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7123788	1.00[TSI][hapmap]
rs7929867	1.00[EUR][1000 genomes]
rs7933899	0.82[ASW][hapmap];0.84[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7948681	1.00[ASW][hapmap];0.92[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9630214	1.00[EUR][1000 genomes]
rs9630215	1.00[EUR][1000 genomes]
rs9804541	1.00[TSI][hapmap]
rs9888136	1.00[EUR][1000 genomes]
rs9888177	1.00[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	chr11:63610200-63633200	Weak transcription	Fetal Brain Male	brain
2	chr11:63613200-63633000	Weak transcription	HSMM	muscle
3	chr11:63615800-63633200	Weak transcription	HMEC	breast
4	chr11:63615800-63634800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:63615800-63636000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:63615800-63636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:63615800-63636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:63619200-63638000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:63619400-63639400	Weak transcription	Ovary	ovary
10	chr11:63619600-63633000	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:63619600-63633000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:63619600-63634000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:63619600-63636000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:63619600-63636000	Weak transcription	HSMMtube	muscle
15	chr11:63619600-63639200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:63622800-63633000	Weak transcription	Fetal Lung	lung
17	chr11:63626400-63633000	Weak transcription	Fetal Heart	heart
18	chr11:63626400-63637800	Weak transcription	NH-A	brain
19	chr11:63626800-63633000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:63626800-63633200	Strong transcription	Fetal Stomach	stomach
21	chr11:63626800-63636000	Weak transcription	Psoas Muscle	Psoas
22	chr11:63627000-63633200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:63627200-63633000	Weak transcription	Right Atrium	heart
24	chr11:63627400-63634400	Weak transcription	Right Ventricle	heart
25	chr11:63628800-63644200	Genic enhancers	Fetal Intestine Small	intestine
26	chr11:63629000-63633200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:63629000-63633200	Strong transcription	Fetal Muscle Leg	muscle
28	chr11:63629600-63638800	Enhancers	Stomach Mucosa	stomach
29	chr11:63629800-63634200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr11:63629800-63635600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr11:63629800-63636200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:63630000-63633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:63630000-63633200	Weak transcription	NHEK	skin
34	chr11:63630000-63633400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr11:63630000-63640000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr11:63630200-63636800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr11:63630400-63633200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:63630600-63633000	Weak transcription	Colonic Mucosa	Colon
39	chr11:63630600-63636000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:63630600-63636000	Weak transcription	NHDF-Ad	bronchial
41	chr11:63630600-63642200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr11:63630800-63633000	Weak transcription	Dnd41	blood
43	chr11:63630800-63633000	Weak transcription	K562	blood
44	chr11:63630800-63633200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:63630800-63633200	Enhancers	Primary T cells from cord blood	blood
46	chr11:63630800-63633200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:63630800-63633200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:63630800-63633200	Weak transcription	Adipose Nuclei	Adipose
49	chr11:63630800-63633200	Weak transcription	Brain Angular Gyrus	brain
50	chr11:63630800-63633200	Weak transcription	Brain Substantia Nigra	brain

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