Variant report

Variant	rs17340521
Chromosome Location	chr6:151076715-151076716
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:151073651..151077490-chr6:151086273..151089717,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12662499	0.88[EUR][1000 genomes]
rs12663819	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12664005	0.86[EUR][1000 genomes]
rs12664858	0.88[CEU][hapmap];0.97[EUR][1000 genomes]
rs13196740	0.88[CEU][hapmap];0.96[EUR][1000 genomes]
rs13201828	0.83[AMR][1000 genomes]
rs13201855	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13211049	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13211397	0.96[EUR][1000 genomes]
rs13211603	0.97[EUR][1000 genomes]
rs17080241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34254299	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35631181	0.93[ASN][1000 genomes]
rs36054564	0.90[ASN][1000 genomes]
rs4645433	0.82[EUR][1000 genomes]
rs56028508	0.88[EUR][1000 genomes]
rs57798861	0.97[EUR][1000 genomes]
rs71570234	0.88[EUR][1000 genomes]
rs71570235	0.88[EUR][1000 genomes]
rs742636	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7453338	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7757414	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7774822	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9478809	0.88[CEU][hapmap];0.96[EUR][1000 genomes]
rs997374	0.81[JPT][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	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
2	nsv1019919	chr6:151028969-151161789	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv538474	chr6:151028969-151161789	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:151042600-151085400	Weak transcription	Esophagus	oesophagus
2	chr6:151056000-151087200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:151061600-151112200	Weak transcription	Right Atrium	heart
4	chr6:151072400-151079400	Strong transcription	Primary B cells from cord blood	blood
5	chr6:151072800-151077200	Weak transcription	HUVEC	blood vessel
6	chr6:151072800-151085600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:151073600-151078000	Enhancers	Fetal Muscle Leg	muscle
8	chr6:151074600-151077600	Enhancers	Left Ventricle	heart
9	chr6:151074600-151078000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:151075000-151076800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:151075000-151077400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:151075000-151077400	Enhancers	Lung	lung
13	chr6:151075000-151078000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:151075000-151078000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:151075200-151077800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:151075200-151085000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:151075200-151093600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:151075400-151077200	Weak transcription	HMEC	breast
19	chr6:151075400-151078800	Enhancers	Fetal Heart	heart
20	chr6:151075400-151083800	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:151075400-151084400	Weak transcription	Fetal Stomach	stomach
22	chr6:151075400-151085600	Weak transcription	Ovary	ovary
23	chr6:151075400-151086600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:151075600-151077400	Strong transcription	Thymus	Thymus
25	chr6:151075600-151082600	Weak transcription	Fetal Kidney	kidney
26	chr6:151075600-151085600	Weak transcription	Fetal Brain Female	brain
27	chr6:151075600-151094400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:151075800-151077000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:151075800-151077600	Enhancers	Fetal Muscle Trunk	muscle
30	chr6:151075800-151084600	Weak transcription	Placenta	Placenta
31	chr6:151076200-151077600	Enhancers	Brain Substantia Nigra	brain
32	chr6:151076200-151079200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr6:151076200-151085400	Weak transcription	Fetal Lung	lung
34	chr6:151076400-151083600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:151076600-151076800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:151076600-151076800	Enhancers	Adipose Nuclei	Adipose
37	chr6:151076600-151076800	Enhancers	Brain Germinal Matrix	brain
38	chr6:151076600-151076800	Genic enhancers	Spleen	Spleen
39	chr6:151076600-151077600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:151076600-151077600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:151076600-151078000	Strong transcription	Fetal Thymus	thymus
42	chr6:151076600-151078000	Enhancers	NH-A	brain

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