Variant report

Variant	rs1940220
Chromosome Location	chr11:100789773-100789774
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100781843..100783997-chr11:100787254..100790208,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1047624	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11224511	0.88[EUR][1000 genomes]
rs11224517	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11224518	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11224519	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11224520	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11224528	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11224529	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12273212	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12276190	0.87[EUR][1000 genomes]
rs12281543	0.92[EUR][1000 genomes]
rs12283290	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs12285336	0.87[EUR][1000 genomes]
rs12286700	0.87[EUR][1000 genomes]
rs12286931	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12290272	0.87[EUR][1000 genomes]
rs12417750	0.87[EUR][1000 genomes]
rs17646129	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17646702	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17647068	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs17647243	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17648451	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17648695	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17654410	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17654633	0.83[EUR][1000 genomes]
rs17659845	0.87[EUR][1000 genomes]
rs17713573	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17726649	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17726667	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17726715	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17726918	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17727251	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17727449	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17727789	0.83[EUR][1000 genomes]
rs17727843	0.83[EUR][1000 genomes]
rs1940222	0.92[EUR][1000 genomes]
rs1944435	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2226640	0.84[EUR][1000 genomes]
rs41392445	1.00[CEU][hapmap]
rs55952345	0.85[EUR][1000 genomes]
rs56199820	0.89[EUR][1000 genomes]
rs60312663	0.84[EUR][1000 genomes]
rs7948907	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7949497	1.00[CEU][hapmap];0.90[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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100758400-100798400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:100758600-100795200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:100758800-100791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:100770400-100789800	Weak transcription	Fetal Stomach	stomach
5	chr11:100772000-100831400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:100773800-100789800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:100773800-100809800	Weak transcription	Left Ventricle	heart
8	chr11:100774800-100812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:100776000-100794000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:100777400-100794200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:100779800-100790000	Weak transcription	Psoas Muscle	Psoas
12	chr11:100779800-100794200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:100780400-100792600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:100783000-100790000	Weak transcription	Ovary	ovary
15	chr11:100783800-100789800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:100784000-100789800	Weak transcription	Small Intestine	intestine
17	chr11:100784000-100808800	Weak transcription	Primary B cells from cord blood	blood
18	chr11:100785200-100789800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:100785400-100838400	Weak transcription	Fetal Intestine Small	intestine
20	chr11:100785600-100789800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:100785600-100789800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:100786200-100794000	Weak transcription	HSMMtube	muscle
23	chr11:100786800-100806800	Weak transcription	Placenta	Placenta
24	chr11:100787000-100789800	Weak transcription	Liver	Liver
25	chr11:100788800-100790200	Enhancers	Fetal Heart	heart
26	chr11:100789000-100789800	Weak transcription	Fetal Kidney	kidney
27	chr11:100789000-100790600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr11:100789400-100790000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr11:100789400-100790000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr11:100789400-100790200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:100789400-100790200	Enhancers	Fetal Lung	lung
32	chr11:100789400-100790200	Enhancers	Fetal Muscle Leg	muscle
33	chr11:100789400-100790200	Enhancers	HSMM	muscle
34	chr11:100789400-100790200	Enhancers	Osteobl	bone
35	chr11:100789400-100790400	Enhancers	A549	lung
36	chr11:100789400-100790600	Enhancers	NH-A	brain
37	chr11:100789600-100790000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:100789600-100790000	Enhancers	Right Atrium	heart
39	chr11:100789600-100790000	Enhancers	NHEK	skin
40	chr11:100789600-100790200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr11:100789600-100790200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:100789600-100790200	Enhancers	Gastric	stomach
43	chr11:100789600-100790200	Enhancers	Stomach Mucosa	stomach
44	chr11:100789600-100790200	Flanking Active TSS	Hela-S3	cervix
45	chr11:100789600-100790400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr11:100789600-100790800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:100789600-100790800	Enhancers	Adipose Nuclei	Adipose

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