Variant report

Variant	rs12295918
Chromosome Location	chr11:63631320-63631321
allele	C/T
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	chr11:63630927..63632567-chr11:63633500..63636233,2	MCF-7	breast:
5	chr11:63626669..63629006-chr11:63629187..63632066,2	MCF-7	breast:
6	chr11:63609085..63610826-chr11:63629882..63631778,2	K562	blood:

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10897460	1.00[EUR][1000 genomes]
rs11231632	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11231634	1.00[EUR][1000 genomes]
rs12099085	1.00[EUR][1000 genomes]
rs12271959	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[EUR][1000 genomes]
rs13377315	1.00[EUR][1000 genomes]
rs320110	1.00[EUR][1000 genomes]
rs57219930	1.00[EUR][1000 genomes]
rs57864399	1.00[EUR][1000 genomes]
rs58678024	1.00[EUR][1000 genomes]
rs59423787	0.93[AFR][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]
rs7110433	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7929867	1.00[EUR][1000 genomes]
rs7933899	1.00[EUR][1000 genomes]
rs7948681	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7952003	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9630214	1.00[EUR][1000 genomes]
rs9630215	1.00[EUR][1000 genomes]
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:124 , 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	chr11:63613200-63632400	Weak transcription	Fetal Brain Female	brain
3	chr11:63613200-63633000	Weak transcription	HSMM	muscle
4	chr11:63615800-63633200	Weak transcription	HMEC	breast
5	chr11:63615800-63634800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:63615800-63636000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:63615800-63636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:63615800-63636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:63619000-63632600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:63619200-63638000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:63619400-63639400	Weak transcription	Ovary	ovary
12	chr11:63619600-63633000	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:63619600-63633000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:63619600-63634000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:63619600-63636000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:63619600-63636000	Weak transcription	HSMMtube	muscle
17	chr11:63619600-63639200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:63622800-63633000	Weak transcription	Fetal Lung	lung
19	chr11:63626400-63633000	Weak transcription	Fetal Heart	heart
20	chr11:63626400-63637800	Weak transcription	NH-A	brain
21	chr11:63626800-63632800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:63626800-63633000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:63626800-63633200	Strong transcription	Fetal Stomach	stomach
24	chr11:63626800-63636000	Weak transcription	Psoas Muscle	Psoas
25	chr11:63627000-63633200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:63627200-63633000	Weak transcription	Right Atrium	heart
27	chr11:63627400-63632600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:63627400-63634400	Weak transcription	Right Ventricle	heart
29	chr11:63628800-63644200	Genic enhancers	Fetal Intestine Small	intestine
30	chr11:63629000-63633200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:63629000-63633200	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:63629400-63631400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:63629600-63632600	Strong transcription	Left Ventricle	heart
34	chr11:63629600-63638800	Enhancers	Stomach Mucosa	stomach
35	chr11:63629800-63631400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:63629800-63632000	Weak transcription	Gastric	stomach
37	chr11:63629800-63634200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr11:63629800-63635600	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr11:63629800-63636200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:63630000-63631400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:63630000-63631400	Enhancers	Brain Cingulate Gyrus	brain
42	chr11:63630000-63631400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
43	chr11:63630000-63633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:63630000-63633200	Weak transcription	NHEK	skin
45	chr11:63630000-63633400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr11:63630000-63640000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr11:63630200-63636800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr11:63630400-63631400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr11:63630400-63633200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:63630600-63631400	Enhancers	Primary hematopoietic stem cells	blood

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