Variant report

Variant	rs188
Chromosome Location	chr7:27936737-27936738
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27936636..27940623-chr7:27942043..27944252,3	MCF-7	breast:
2	chr7:27928475..27932092-chr7:27934786..27940167,5	K562	blood:
3	chr7:27933855..27936003-chr7:27936219..27938818,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1055445	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12535525	0.81[ASN][1000 genomes]
rs12669526	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17621310	1.00[CEU][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs189	0.89[AMR][1000 genomes]
rs190	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs192	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs193	0.87[AMR][1000 genomes]
rs194	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs204	0.87[AMR][1000 genomes]
rs216	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs220	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4719914	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs62451112	0.82[ASN][1000 genomes]
rs916855	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs916856	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs916857	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27909400-27937200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:27914400-27937200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:27915400-27939400	Weak transcription	NHDF-Ad	bronchial
4	chr7:27915800-27937200	Weak transcription	Gastric	stomach
5	chr7:27915800-27937200	Weak transcription	Right Ventricle	heart
6	chr7:27922800-27937000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:27923800-27936800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:27923800-27941000	Weak transcription	Fetal Brain Female	brain
9	chr7:27924000-27937200	Weak transcription	Lung	lung
10	chr7:27924000-27938800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:27924000-27938800	Weak transcription	Spleen	Spleen
12	chr7:27925800-27937000	Weak transcription	Fetal Heart	heart
13	chr7:27926600-27956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:27928000-27939800	Weak transcription	Osteobl	bone
15	chr7:27928400-27940600	Weak transcription	NHLF	lung
16	chr7:27928400-27940800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:27928800-27937400	Weak transcription	Psoas Muscle	Psoas
18	chr7:27930000-27938400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:27930000-27939600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:27930000-27949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:27930800-27939600	Weak transcription	GM12878-XiMat	blood
22	chr7:27931200-27939600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:27931600-27939400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:27931800-27938800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:27931800-27940800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:27931800-27941000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:27932000-27941000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:27932800-27941000	Weak transcription	Thymus	Thymus
29	chr7:27933600-27938400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:27934000-27939600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:27934000-27940600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr7:27934200-27938400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:27934200-27938600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:27934200-27939400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:27934200-27940000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:27934200-27940200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:27934400-27937400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr7:27934400-27938200	Weak transcription	Ovary	ovary
39	chr7:27934400-27938400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:27934400-27939400	Weak transcription	Adipose Nuclei	Adipose
41	chr7:27934400-27940800	Weak transcription	Aorta	Aorta
42	chr7:27934400-27940800	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:27934400-27940800	Weak transcription	Fetal Stomach	stomach
44	chr7:27934400-27940800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:27934600-27937000	Enhancers	Dnd41	blood
46	chr7:27934600-27937200	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:27934600-27941000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:27934600-27941000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:27935000-27937200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:27935000-27937400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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