Variant report

Variant	rs10486519
Chromosome Location	chr7:33236199-33236200
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	chr7:33228994..33231017-chr7:33236127..33239068,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11979709	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12671333	1.00[CEU][hapmap];0.87[GIH][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs58863926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73095320	0.88[EUR][1000 genomes]
rs73095390	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7808112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1796696	chr7:33236199-33243642	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33217000-33239200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:33217800-33252400	Weak transcription	Aorta	Aorta
3	chr7:33218200-33252200	Weak transcription	Left Ventricle	heart
4	chr7:33220600-33237000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:33221000-33236200	Weak transcription	Brain Anterior Caudate	brain
6	chr7:33221000-33236400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:33230800-33237000	Weak transcription	Primary T cells from cord blood	blood
8	chr7:33230800-33248000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:33231200-33238200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:33233200-33236800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:33233400-33236400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:33233400-33236600	Enhancers	Osteobl	bone
13	chr7:33234400-33236400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:33234400-33236400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:33234600-33236200	Enhancers	Psoas Muscle	Psoas
16	chr7:33234600-33236400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:33235400-33236200	Enhancers	HSMMtube	muscle
18	chr7:33235800-33236400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr7:33236000-33236200	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:33236000-33236200	Enhancers	Colon Smooth Muscle	Colon
21	chr7:33236000-33236400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:33236000-33236400	Enhancers	Fetal Heart	heart
23	chr7:33236000-33236400	Enhancers	Fetal Muscle Leg	muscle
24	chr7:33236000-33236600	Enhancers	NH-A	brain

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