Variant report

Variant	rs7927430
Chromosome Location	chr11:72093614-72093615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72091543..72093967-chr11:72145202..72146905,2	MCF-7	breast:
2	chr11:72091482..72095787-chr11:72096179..72098134,4	K562	blood:
3	chr11:72087985..72090397-chr11:72092015..72093828,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162129	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1160142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12295464	0.93[EUR][1000 genomes]
rs17160018	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162130	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17162131	0.81[YRI][hapmap]
rs17162133	0.81[YRI][hapmap]
rs17162135	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17162138	0.81[YRI][hapmap]
rs17162141	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17162150	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1864322	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs2886351	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4268536	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4475949	0.89[ASN][1000 genomes]
rs4488227	0.89[ASN][1000 genomes]
rs57380316	1.00[EUR][1000 genomes]
rs57402767	0.95[EUR][1000 genomes]
rs58058345	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58515298	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58571741	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7107422	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7109307	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109466	1.00[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs7111173	0.85[EUR][1000 genomes]
rs7118089	0.95[EUR][1000 genomes]
rs7118697	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs7120137	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs7129526	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs730042	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73528860	0.87[ASN][1000 genomes]
rs7938979	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7939212	0.85[EUR][1000 genomes]
rs7940087	0.87[EUR][1000 genomes]
rs7947482	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7950298	0.82[CEU][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS 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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72045800-72094600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:72065000-72110800	Weak transcription	Hela-S3	cervix
3	chr11:72066600-72095000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:72069400-72111400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:72069600-72094600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr11:72069800-72098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:72070600-72094000	Weak transcription	Fetal Thymus	thymus
8	chr11:72072800-72098800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:72073400-72103200	Weak transcription	K562	blood
10	chr11:72075000-72099400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:72078000-72094800	Weak transcription	Liver	Liver
12	chr11:72079600-72094200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:72079600-72094800	Weak transcription	A549	lung
14	chr11:72084200-72096200	Weak transcription	Small Intestine	intestine
15	chr11:72084600-72095000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:72088400-72095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:72090200-72095000	Weak transcription	Esophagus	oesophagus
18	chr11:72090200-72098800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:72090200-72103200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:72090400-72098800	Weak transcription	NHLF	lung
21	chr11:72090400-72123000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:72090600-72096400	Weak transcription	Adipose Nuclei	Adipose
23	chr11:72090600-72098800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:72090800-72098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:72090800-72105400	Weak transcription	Left Ventricle	heart
26	chr11:72091000-72094800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:72091000-72094800	Weak transcription	Dnd41	blood
28	chr11:72091200-72094400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:72091200-72094600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:72091400-72095000	Weak transcription	HSMMtube	muscle
31	chr11:72091400-72098600	Weak transcription	NHEK	skin
32	chr11:72091400-72106600	Weak transcription	Aorta	Aorta
33	chr11:72091400-72106600	Weak transcription	Ovary	ovary
34	chr11:72091400-72109600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:72091400-72111400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:72091600-72093800	Weak transcription	Primary T cells from cord blood	blood
37	chr11:72091600-72094200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:72091600-72094400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:72091600-72094600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:72091600-72094800	Weak transcription	GM12878-XiMat	blood
41	chr11:72091600-72119200	Weak transcription	Thymus	Thymus
42	chr11:72091800-72094600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr11:72092200-72093800	Enhancers	Pancreas	Pancrea
44	chr11:72092800-72098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:72093400-72093800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:72093400-72093800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr11:72093400-72093800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:72093400-72093800	ZNF genes & repeats	Fetal Stomach	stomach
49	chr11:72093600-72093800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:72093600-72093800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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