Variant report

Variant	rs1380575
Chromosome Location	chr11:72796428-72796429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72794791..72796457-chr11:72847518..72849670,2	MCF-7	breast:
2	chr11:72795559..72797402-chr11:72798255..72800366,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1025411	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10732893	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10736788	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10736789	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10736791	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10751219	1.00[EUR][1000 genomes]
rs10898888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10898892	1.00[EUR][1000 genomes]
rs11235608	1.00[EUR][1000 genomes]
rs11824394	1.00[EUR][1000 genomes]
rs12099370	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1380574	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2060072	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2365906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3903492	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4373969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4594026	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944015	0.91[EUR][1000 genomes]
rs4944019	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4944814	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4944817	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55787543	1.00[EUR][1000 genomes]
rs55838097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55888199	1.00[EUR][1000 genomes]
rs56133665	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56154220	1.00[EUR][1000 genomes]
rs56283764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56316448	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57731198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58192366	1.00[EUR][1000 genomes]
rs59925945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60219481	1.00[EUR][1000 genomes]
rs60812177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60877622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61424140	0.92[AFR][1000 genomes]
rs6592494	1.00[EUR][1000 genomes]
rs6592495	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6592502	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7102424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7107817	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7115321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117220	0.87[AFR][1000 genomes]
rs7117786	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7118144	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7122566	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7130559	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs72984941	0.83[EUR][1000 genomes]
rs72984946	1.00[EUR][1000 genomes]
rs72984947	1.00[EUR][1000 genomes]
rs72984948	1.00[EUR][1000 genomes]
rs7395081	1.00[EUR][1000 genomes]
rs7930535	1.00[EUR][1000 genomes]
rs7946019	1.00[EUR][1000 genomes]
rs7951614	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs898384	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs975261	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs994305	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[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	esv2422418	chr11:72646518-72807865	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv555411	chr11:72647296-72800970	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72746600-72824600	Weak transcription	Thymus	Thymus
2	chr11:72764200-72824600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:72768800-72797000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:72771600-72799400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:72773000-72810800	Weak transcription	Fetal Stomach	stomach
6	chr11:72773400-72810400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:72782600-72825200	Weak transcription	Lung	lung
8	chr11:72783200-72798800	Weak transcription	Left Ventricle	heart
9	chr11:72784200-72797800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:72784200-72798800	Weak transcription	Right Ventricle	heart
11	chr11:72784200-72799000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:72784400-72797800	Weak transcription	Brain Substantia Nigra	brain
13	chr11:72784400-72806400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:72784600-72798000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:72784600-72798800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:72784600-72799000	Weak transcription	Hela-S3	cervix
17	chr11:72784600-72806400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:72784600-72810800	Weak transcription	Aorta	Aorta
19	chr11:72784600-72812000	Weak transcription	NHEK	skin
20	chr11:72785000-72811000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:72785200-72806600	Weak transcription	Osteobl	bone
22	chr11:72785200-72810600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:72786000-72804600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:72786200-72823600	Weak transcription	Placenta	Placenta
25	chr11:72786600-72798800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:72788200-72825400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:72789200-72802200	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:72789200-72806000	Weak transcription	Adipose Nuclei	Adipose
29	chr11:72789200-72806600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:72789200-72825000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:72789200-72825200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:72789400-72797000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr11:72789400-72806200	Weak transcription	Fetal Heart	heart
34	chr11:72789400-72806400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:72789400-72817600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:72789400-72825200	Weak transcription	HSMM	muscle
37	chr11:72789400-72825800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:72789600-72803200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:72789600-72806000	Weak transcription	Fetal Lung	lung
40	chr11:72789600-72813400	Weak transcription	Fetal Intestine Large	intestine
41	chr11:72790000-72798800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:72790000-72806400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:72790200-72799000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:72790200-72807200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:72791200-72797600	Weak transcription	Liver	Liver
46	chr11:72791400-72806000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:72793200-72798800	Weak transcription	Spleen	Spleen
48	chr11:72793200-72810600	Weak transcription	Fetal Intestine Small	intestine
49	chr11:72793200-72824800	Weak transcription	Dnd41	blood
50	chr11:72793400-72799000	Weak transcription	NHLF	lung

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