Variant report

Variant	rs3808058
Chromosome Location	chr7:127668071-127668072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127666110..127669340-chr7:127673259..127677722,5	K562	blood:
2	chr7:127666110..127668774-chr7:127674158..127676432,2	K562	blood:
3	chr7:127663588..127667936-chr7:127668041..127670204,3	MCF-7	breast:
4	chr7:127663984..127666061-chr7:127666867..127669252,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10215276	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10255861	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10260037	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1075206	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1193334	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1193337	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362267	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1362268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1362897	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17676908	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17676986	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17733988	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3757757	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757767	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808057	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808084	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808087	0.84[EUR][1000 genomes]
rs3824000	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6948493	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6963614	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720300	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238074	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs759056	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7786041	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs887745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs917831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[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	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	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127641600-127670400	Weak transcription	Colonic Mucosa	Colon
2	chr7:127644000-127668800	Weak transcription	Dnd41	blood
3	chr7:127644000-127670200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:127644800-127670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:127645400-127670000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:127651800-127668800	Weak transcription	Ovary	ovary
8	chr7:127651800-127670600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:127653200-127668800	Weak transcription	Thymus	Thymus
10	chr7:127654600-127669200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:127657000-127670200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:127657800-127669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr7:127658000-127668800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:127658800-127668800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:127658800-127669600	Weak transcription	Stomach Mucosa	stomach
16	chr7:127661200-127670400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:127661600-127668800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:127661600-127668800	Weak transcription	Pancreas	Pancrea
19	chr7:127661600-127669000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:127661600-127670200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:127661600-127670400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:127662200-127669000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:127662800-127668200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:127663000-127669200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:127663200-127669000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:127663200-127671200	Weak transcription	NHLF	lung
27	chr7:127663200-127671400	Weak transcription	NHDF-Ad	bronchial
28	chr7:127663400-127668800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:127663400-127669000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:127663400-127669200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:127663400-127669200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:127663600-127670800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:127663800-127669000	Weak transcription	Hela-S3	cervix
34	chr7:127664200-127670600	Enhancers	Adipose Nuclei	Adipose
35	chr7:127664600-127668200	Enhancers	Brain Substantia Nigra	brain
36	chr7:127664600-127668800	Enhancers	Liver	Liver
37	chr7:127664600-127669000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:127664600-127669000	Weak transcription	Fetal Thymus	thymus
39	chr7:127664800-127668800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:127664800-127669600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:127665200-127668200	Enhancers	Fetal Muscle Leg	muscle
42	chr7:127665200-127668800	Weak transcription	Placenta	Placenta
43	chr7:127665200-127669000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr7:127665200-127669000	Weak transcription	Fetal Stomach	stomach
45	chr7:127665600-127668200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr7:127665600-127669000	Weak transcription	Aorta	Aorta
47	chr7:127665800-127668400	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr7:127665800-127668600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr7:127665800-127669000	Weak transcription	NHEK	skin
50	chr7:127666000-127668800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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