Variant report

Variant	rs58368490
Chromosome Location	chr7:127406606-127406607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127402152..127404237-chr7:127406548..127408447,2	MCF-7	breast:
2	chr7:127405359..127407780-chr7:127410087..127411975,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs55820323	0.86[AFR][1000 genomes]
rs56221924	0.86[AFR][1000 genomes]
rs56347144	0.86[AFR][1000 genomes]
rs57866092	1.00[AMR][1000 genomes]
rs57918669	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58102896	0.86[AFR][1000 genomes]
rs60126795	0.82[AFR][1000 genomes]
rs60776739	1.00[AMR][1000 genomes]
rs61165973	0.86[AFR][1000 genomes]
rs61180975	1.00[AMR][1000 genomes]
rs6951386	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951924	0.86[AFR][1000 genomes]
rs6966554	0.86[AFR][1000 genomes]
rs6977011	0.86[AFR][1000 genomes]
rs73721003	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721004	0.86[AFR][1000 genomes]
rs73721005	0.86[AFR][1000 genomes]
rs73721006	0.86[AFR][1000 genomes]
rs73721007	0.86[AFR][1000 genomes]
rs73721008	0.86[AFR][1000 genomes]
rs73721009	0.86[AFR][1000 genomes]
rs73721011	0.86[AFR][1000 genomes]
rs73721012	0.86[AFR][1000 genomes]
rs73721015	0.86[AFR][1000 genomes]
rs73721017	0.86[AFR][1000 genomes]
rs73721018	0.86[AFR][1000 genomes]
rs73721019	0.86[AFR][1000 genomes]
rs73721020	0.86[AFR][1000 genomes]
rs73721021	0.86[AFR][1000 genomes]
rs73721023	0.86[AFR][1000 genomes]
rs73721024	0.86[AFR][1000 genomes]
rs73721025	0.86[AFR][1000 genomes]
rs73721026	0.86[AFR][1000 genomes]
rs73721262	1.00[AMR][1000 genomes]
rs73721275	1.00[AMR][1000 genomes]
rs73721276	1.00[AMR][1000 genomes]
rs73721277	1.00[AMR][1000 genomes]
rs73721280	1.00[AMR][1000 genomes]
rs73721281	1.00[AMR][1000 genomes]
rs73723043	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723044	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723056	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723057	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723058	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723059	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723060	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723061	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723062	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723063	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723064	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723066	1.00[AMR][1000 genomes]
rs73723067	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723068	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723070	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723071	0.86[AFR][1000 genomes];1.00[AMR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1793220	chr7:127400473-127413555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127373200-127410000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:127375400-127417400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:127376800-127409200	Weak transcription	HUVEC	blood vessel
4	chr7:127377000-127409200	Weak transcription	NHLF	lung
5	chr7:127378200-127412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
7	chr7:127380000-127409200	Weak transcription	Aorta	Aorta
8	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
9	chr7:127388600-127407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:127388600-127407000	Weak transcription	Dnd41	blood
11	chr7:127390200-127407200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:127391600-127407000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:127391600-127407000	Weak transcription	Primary T cells from cord blood	blood
14	chr7:127391800-127408400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:127392000-127408000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:127392000-127408000	Weak transcription	NH-A	brain
17	chr7:127392000-127409000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:127392000-127409600	Weak transcription	HMEC	breast
19	chr7:127392200-127407000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:127392200-127407800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:127392200-127408200	Weak transcription	NHDF-Ad	bronchial
22	chr7:127392200-127409000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:127392200-127409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:127392200-127410400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:127392200-127411000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:127392400-127407000	Weak transcription	HSMM	muscle
27	chr7:127392600-127410000	Weak transcription	Left Ventricle	heart
28	chr7:127393200-127422800	Weak transcription	Fetal Thymus	thymus
29	chr7:127395400-127406800	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:127395400-127422200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:127395800-127406800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr7:127395800-127406800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:127395800-127409400	Weak transcription	Right Atrium	heart
34	chr7:127395800-127437200	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:127396000-127407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:127396400-127422200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:127396800-127407000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:127396800-127409400	Weak transcription	Fetal Heart	heart
39	chr7:127397800-127407000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:127398400-127408400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:127398600-127407000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:127398600-127407000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:127398600-127407000	Weak transcription	Osteobl	bone
44	chr7:127399000-127409600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:127399600-127408000	Weak transcription	HSMMtube	muscle
46	chr7:127401000-127409000	Weak transcription	A549	lung
47	chr7:127401000-127411000	Weak transcription	Gastric	stomach
48	chr7:127401000-127411000	Weak transcription	Pancreas	Pancrea
49	chr7:127401000-127422000	Weak transcription	Small Intestine	intestine
50	chr7:127401000-127422400	Weak transcription	Duodenum Mucosa	Duodenum

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