Variant report

Variant	rs72941373
Chromosome Location	chr6:106994029-106994030
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	chr6:106982665..106985601-chr6:106993025..106995759,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1676030	1.00[EUR][1000 genomes]
rs17495623	0.86[EUR][1000 genomes]
rs17495678	0.86[EUR][1000 genomes]
rs17495742	0.86[EUR][1000 genomes]
rs41292422	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41312800	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55904932	0.88[AMR][1000 genomes]
rs61741114	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72941307	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72941326	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72943025	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72943042	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72943087	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72943092	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72943097	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72945008	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72945018	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72945029	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72945030	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72945045	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72945047	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72945056	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72945067	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72945068	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72945071	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72945072	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72945075	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72945079	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72945081	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72945093	0.93[AMR][1000 genomes]
rs72945095	1.00[AMR][1000 genomes]
rs72945097	1.00[AMR][1000 genomes]
rs72945098	1.00[AMR][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	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1017419	chr6:106984669-106997000	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106961000-107001400	Weak transcription	Gastric	stomach
2	chr6:106964800-107029800	Weak transcription	Small Intestine	intestine
3	chr6:106970600-107022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:106979000-107001400	Weak transcription	Pancreas	Pancrea
5	chr6:106981600-106995600	Weak transcription	Colonic Mucosa	Colon
6	chr6:106982400-107000800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:106985800-107019200	Weak transcription	Aorta	Aorta
8	chr6:106986400-106994600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:106986400-106995000	Weak transcription	Thymus	Thymus
10	chr6:106986800-106994400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr6:106988200-107001400	Weak transcription	Lung	lung
12	chr6:106988400-106995600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:106988800-106994600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr6:106989200-106994600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:106989800-106995800	Weak transcription	Fetal Stomach	stomach
16	chr6:106991200-106994600	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr6:106991200-106999600	Strong transcription	Dnd41	blood
18	chr6:106991400-106994800	Strong transcription	Liver	Liver
19	chr6:106992000-106994800	Weak transcription	Fetal Intestine Small	intestine
20	chr6:106992000-106995400	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:106992600-106996400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:106992600-106996600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:106992800-106994400	Genic enhancers	Primary B cells from cord blood	blood
24	chr6:106992800-106995800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:106993000-106994400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:106993200-106994200	Genic enhancers	NHDF-Ad	bronchial
27	chr6:106993200-106994400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:106993200-106994400	Enhancers	HUVEC	blood vessel
29	chr6:106993200-106994400	Genic enhancers	NHEK	skin
30	chr6:106993200-106994600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:106993200-106996400	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr6:106993200-106996600	Enhancers	Primary hematopoietic stem cells	blood
33	chr6:106993400-106994200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:106993400-106994400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:106993400-106994600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:106993400-106995000	Genic enhancers	Placenta	Placenta
37	chr6:106993400-106995200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:106993400-106996000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr6:106993400-106996000	Enhancers	Adipose Nuclei	Adipose
40	chr6:106993600-106994400	Weak transcription	Fetal Thymus	thymus
41	chr6:106993600-106994600	Enhancers	Fetal Muscle Leg	muscle
42	chr6:106993600-106996200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:106993600-106998400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr6:106993800-106994200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:106993800-106994200	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr6:106993800-106994200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr6:106993800-106994200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:106993800-106994200	Enhancers	Esophagus	oesophagus
49	chr6:106993800-106994200	Enhancers	Left Ventricle	heart
50	chr6:106993800-106994400	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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