Variant report

Variant	rs2347624
Chromosome Location	chr6:71500873-71500874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10447360	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1084382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1084385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1084386	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1413353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17763641	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2460694	1.00[ASN][1000 genomes]
rs2504742	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2504746	1.00[ASN][1000 genomes]
rs4235862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455376	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6455381	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7740106	1.00[ASN][1000 genomes]
rs7750570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs782003	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9294880	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9346399	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9446297	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71444800-71523600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:71466400-71508800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:71468800-71532200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr6:71473000-71515600	Weak transcription	Left Ventricle	heart
5	chr6:71473800-71520200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:71474600-71568800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:71474800-71515000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:71475000-71515200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:71481800-71515000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:71482200-71515600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:71483000-71515200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:71487600-71515600	Weak transcription	Thymus	Thymus
13	chr6:71489000-71506000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:71489000-71517400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:71489000-71521800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:71489200-71517800	Weak transcription	Fetal Thymus	thymus
17	chr6:71489400-71515000	Weak transcription	Liver	Liver
18	chr6:71489600-71515600	Weak transcription	Primary T cells from cord blood	blood
19	chr6:71490400-71515600	Weak transcription	Pancreas	Pancrea
20	chr6:71491800-71526200	Weak transcription	HSMM	muscle
21	chr6:71492000-71504000	Weak transcription	Primary B cells from cord blood	blood
22	chr6:71492000-71522200	Weak transcription	Brain Angular Gyrus	brain
23	chr6:71492400-71508800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:71492400-71563600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:71492800-71515600	Weak transcription	Aorta	Aorta
26	chr6:71493000-71515600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:71493000-71526000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:71493200-71502000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:71500200-71515600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:71500400-71501600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr6:71500800-71514600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:71500800-71517600	Weak transcription	Brain Cingulate Gyrus	brain

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