Variant report

Variant	rs17450049
Chromosome Location	chr7:27404437-27404438
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27402338..27404495-chr7:27407726..27411327,5	K562	blood:
2	chr7:27403084..27405273-chr7:27422070..27424632,2	K562	blood:
3	chr7:27388390..27389956-chr7:27404431..27406421,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10486496	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11563322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11563573	1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11563575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11563576	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12333740	1.00[EUR][1000 genomes]
rs12534334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12540654	0.85[ASN][1000 genomes]
rs17155208	1.00[EUR][1000 genomes]
rs17449226	1.00[EUR][1000 genomes]
rs17449448	1.00[EUR][1000 genomes]
rs17449951	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17449958	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17449979	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17450021	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17450035	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17450069	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17450104	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17471730	1.00[EUR][1000 genomes]
rs17478714	1.00[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17478742	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17478763	0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17478896	1.00[EUR][1000 genomes]
rs17502782	1.00[EUR][1000 genomes]
rs6973628	0.85[ASN][1000 genomes]
rs6978713	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7794937	0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27398200-27407400	Weak transcription	Pancreas	Pancrea
2	chr7:27403200-27405000	Enhancers	Stomach Mucosa	stomach
3	chr7:27403400-27404600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr7:27403400-27404800	Enhancers	Placenta	Placenta
5	chr7:27403400-27405000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:27403400-27405000	Enhancers	Spleen	Spleen
7	chr7:27403600-27404800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:27403600-27404800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:27403600-27404800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:27403600-27404800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:27403600-27404800	Enhancers	Psoas Muscle	Psoas
12	chr7:27403800-27404600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:27403800-27404600	Enhancers	Fetal Lung	lung
14	chr7:27403800-27404600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr7:27403800-27404800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:27403800-27404800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:27403800-27404800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr7:27403800-27404800	Flanking Active TSS	Osteobl	bone
19	chr7:27403800-27405000	Enhancers	Brain Substantia Nigra	brain
20	chr7:27404000-27404600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:27404000-27404600	Enhancers	HMEC	breast
22	chr7:27404000-27404800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr7:27404000-27404800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr7:27404000-27405200	Enhancers	A549	lung
25	chr7:27404200-27405000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:27404200-27405000	Enhancers	Ovary	ovary
27	chr7:27404200-27407000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:27404200-27411800	Weak transcription	K562	blood
29	chr7:27404400-27404600	Flanking Active TSS	NHDF-Ad	bronchial
30	chr7:27404400-27404800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:27404400-27404800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:27404400-27404800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:27404400-27404800	Enhancers	Liver	Liver
34	chr7:27404400-27404800	Enhancers	Brain Angular Gyrus	brain
35	chr7:27404400-27404800	Enhancers	Brain Anterior Caudate	brain
36	chr7:27404400-27404800	Enhancers	Lung	lung
37	chr7:27404400-27404800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr7:27404400-27404800	Enhancers	NHLF	lung
39	chr7:27404400-27405000	Enhancers	Hela-S3	cervix

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