Variant report

Variant	rs4930354
Chromosome Location	chr11:66087712-66087713
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	chr11:66085245..66088151-chr11:66126430..66129737,4	MCF-7	breast:
2	chr11:66085300..66087930-chr11:66392771..66394430,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12417758	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs33981819	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3741367	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3741368	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs523583	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61891388	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66974947	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66084600-66103200	Weak transcription	Small Intestine	intestine
2	chr11:66085800-66089200	Weak transcription	Right Atrium	heart
3	chr11:66086000-66089000	Weak transcription	Fetal Brain Female	brain
4	chr11:66086200-66089200	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:66086200-66090600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:66086200-66091800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:66086200-66092000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:66086200-66095400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:66086400-66088400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:66086400-66092200	Weak transcription	Lung	lung
11	chr11:66086400-66092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:66086400-66092600	Weak transcription	Colonic Mucosa	Colon
13	chr11:66086600-66087800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr11:66086600-66087800	Weak transcription	HMEC	breast
15	chr11:66086600-66090000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:66086600-66091800	Weak transcription	HSMM	muscle
17	chr11:66086600-66092600	Weak transcription	Right Ventricle	heart
18	chr11:66086600-66093600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:66086600-66095000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:66086800-66087800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr11:66086800-66089000	Weak transcription	NHDF-Ad	bronchial
22	chr11:66086800-66089200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:66086800-66089200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:66086800-66089200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:66086800-66089200	Weak transcription	NHLF	lung
26	chr11:66086800-66089200	Weak transcription	Osteobl	bone
27	chr11:66086800-66089400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:66086800-66090000	Weak transcription	Fetal Stomach	stomach
29	chr11:66086800-66091000	Weak transcription	Spleen	Spleen
30	chr11:66086800-66091600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:66086800-66091800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:66086800-66091800	Weak transcription	Fetal Lung	lung
33	chr11:66086800-66091800	Weak transcription	Hela-S3	cervix
34	chr11:66086800-66092200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:66086800-66092400	Weak transcription	Fetal Intestine Large	intestine
36	chr11:66086800-66093200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:66086800-66093600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:66086800-66093600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:66087000-66089000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:66087000-66089000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:66087000-66089000	Weak transcription	Adipose Nuclei	Adipose
42	chr11:66087000-66089000	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:66087000-66089400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:66087000-66090400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:66087000-66091600	Weak transcription	Esophagus	oesophagus
46	chr11:66087200-66088800	Weak transcription	Primary T cells from cord blood	blood
47	chr11:66087200-66089000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:66087200-66089000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:66087200-66089000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:66087200-66089000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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