Variant report

Variant	rs723053
Chromosome Location	chr6:16670698-16670699
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	chr6:16647525..16649977-chr6:16668456..16671117,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16878696	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16878698	1.00[JPT][hapmap]
rs2237162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2237163	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299069	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6899788	1.00[JPT][hapmap]
rs6930762	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs729770	0.81[CHD][hapmap]
rs73725208	0.89[ASN][1000 genomes]
rs73725209	0.89[ASN][1000 genomes]
rs73725212	0.93[ASN][1000 genomes]
rs73725213	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7758530	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9464932	0.86[AFR][1000 genomes]
rs9464934	0.89[YRI][hapmap]
rs9464935	1.00[JPT][hapmap]
rs9477205	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.85[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532022	chr6:16448152-16825567	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1031423	chr6:16467215-16823725	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1015992	chr6:16469059-16846847	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538148	chr6:16469059-16846847	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16636800-16672600	Weak transcription	Gastric	stomach
2	chr6:16653800-16675000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:16662200-16684000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:16662200-16684000	Weak transcription	Placenta	Placenta
5	chr6:16662200-16685200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:16662200-16699600	Weak transcription	Fetal Intestine Large	intestine
7	chr6:16662400-16699600	Weak transcription	Fetal Intestine Small	intestine
8	chr6:16667200-16671600	Enhancers	Fetal Heart	heart
9	chr6:16667200-16672400	Enhancers	HMEC	breast
10	chr6:16667400-16671000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:16667400-16674400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr6:16667800-16673200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:16668600-16671400	Enhancers	Primary hematopoietic stem cells	blood
14	chr6:16668600-16672200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:16668800-16672800	Enhancers	Hela-S3	cervix
16	chr6:16669000-16671000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:16669200-16670800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:16669200-16670800	Enhancers	Primary T cells from cord blood	blood
19	chr6:16669200-16670800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:16669200-16670800	Enhancers	Osteobl	bone
21	chr6:16669200-16671000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr6:16669200-16671200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr6:16669200-16671200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr6:16669200-16671200	Enhancers	Brain Cingulate Gyrus	brain
25	chr6:16669200-16671400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr6:16669200-16671600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr6:16669200-16671600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:16669200-16671800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:16669200-16671800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr6:16669200-16672000	Enhancers	NHDF-Ad	bronchial
31	chr6:16669200-16672600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:16669200-16672600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:16669200-16672800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr6:16669200-16672800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:16669200-16672800	Enhancers	NHEK	skin
36	chr6:16669200-16673000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:16669200-16674400	Enhancers	HepG2	liver
38	chr6:16669400-16670800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:16669400-16670800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:16669400-16670800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:16669400-16670800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr6:16669400-16671200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr6:16669400-16672000	Enhancers	Adipose Nuclei	Adipose
44	chr6:16669400-16672200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr6:16669400-16672400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:16669400-16672400	Enhancers	NHLF	lung
47	chr6:16669400-16672600	Enhancers	Brain Hippocampus Middle	brain
48	chr6:16669400-16672800	Enhancers	Rectal Smooth Muscle	rectum
49	chr6:16669400-16673400	Enhancers	Colon Smooth Muscle	Colon
50	chr6:16669600-16671000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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