Variant report

Variant	rs17080057
Chromosome Location	chr6:150979813-150979814
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	chr6:150975378..150977551-chr6:150979774..150981508,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12661140	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs12663498	0.87[CEU][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs12664595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1494308	0.85[CEU][hapmap]
rs17080062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17080069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17080087	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17080089	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs17080091	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17080093	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs17080102	1.00[CEU][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57139556	0.84[AMR][1000 genomes]
rs59155780	0.89[EUR][1000 genomes]
rs62434109	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62434110	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62434111	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434119	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62434120	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62434122	0.84[AMR][1000 genomes]
rs62434123	0.84[AMR][1000 genomes]
rs62434124	0.84[AMR][1000 genomes]
rs62434125	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62434129	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs654698	0.85[CEU][hapmap]
rs6929935	0.85[CEU][hapmap]
rs9322273	0.85[CEU][hapmap]
rs9322274	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv886774	chr6:150931131-150983318	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030326	chr6:150967665-151641372	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150959800-150987400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:150960400-150980600	Weak transcription	Stomach Mucosa	stomach
3	chr6:150961600-150980200	Weak transcription	Lung	lung
4	chr6:150964600-150980000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:150964800-150987400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:150967800-150980200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:150971600-150985400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr6:150971600-150986800	Weak transcription	Left Ventricle	heart
9	chr6:150973200-150980600	Weak transcription	Liver	Liver
10	chr6:150974600-150980200	Weak transcription	Placenta	Placenta
11	chr6:150974800-150980200	Weak transcription	Fetal Intestine Large	intestine
12	chr6:150974800-150982000	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:150974800-150988600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:150975000-150980000	Strong transcription	Primary B cells from cord blood	blood
15	chr6:150975600-151002800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:150975800-150980200	Weak transcription	Esophagus	oesophagus
17	chr6:150975800-150980600	Weak transcription	Spleen	Spleen
18	chr6:150975800-150988400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:150976000-150988600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:150977800-150980200	Weak transcription	Fetal Intestine Small	intestine
21	chr6:150977800-150980800	Enhancers	Thymus	Thymus
22	chr6:150977800-150988800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:150977800-150989200	Weak transcription	HUVEC	blood vessel
24	chr6:150978200-150980200	Enhancers	Fetal Thymus	thymus
25	chr6:150978200-150980200	Weak transcription	Small Intestine	intestine
26	chr6:150978400-150980400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:150978600-150981200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:150979200-150980800	Enhancers	Brain Substantia Nigra	brain
29	chr6:150979200-150981000	Enhancers	Fetal Lung	lung
30	chr6:150979200-150981200	Enhancers	Fetal Heart	heart
31	chr6:150979200-150982200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr6:150979400-150980600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:150979400-150987000	Weak transcription	Right Atrium	heart
34	chr6:150979600-150983600	Enhancers	Fetal Stomach	stomach
35	chr6:150979800-150980600	Enhancers	Fetal Brain Female	brain
36	chr6:150979800-150980800	Enhancers	Duodenum Mucosa	Duodenum
37	chr6:150979800-150981200	Enhancers	Fetal Kidney	kidney
38	chr6:150979800-150981200	Enhancers	HMEC	breast

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