Variant report

Variant	rs12536844
Chromosome Location	chr7:33543478-33543479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10235388	0.89[ASN][1000 genomes]
rs12530700	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1419912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17724206	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap]
rs17725673	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.81[ASN][1000 genomes]
rs17726934	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2392235	0.81[ASN][1000 genomes]
rs2392242	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3948651	0.89[ASN][1000 genomes]
rs4720119	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs62451221	0.82[ASN][1000 genomes]
rs62451222	0.92[ASN][1000 genomes]
rs62451225	0.92[ASN][1000 genomes]
rs9886325	1.00[CHB][hapmap];0.82[JPT][hapmap]

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	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830944	chr7:33389892-33549882	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv933237	chr7:33470390-33574046	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv933018	chr7:33506325-33707270	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv830945	chr7:33526648-33670592	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12536844	BBS9	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33533800-33543800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:33534200-33552400	Weak transcription	Pancreas	Pancrea
3	chr7:33535400-33547200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:33536400-33543600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:33536800-33546000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:33537000-33552200	Weak transcription	Aorta	Aorta
7	chr7:33540000-33544400	Enhancers	Fetal Muscle Leg	muscle
8	chr7:33540800-33543600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:33540800-33568600	Weak transcription	Left Ventricle	heart
10	chr7:33541200-33543800	Weak transcription	Fetal Stomach	stomach
11	chr7:33541200-33554600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:33541400-33567200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:33541600-33543800	Weak transcription	Psoas Muscle	Psoas
14	chr7:33541800-33543600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr7:33541800-33544000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:33542400-33543600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:33542400-33547800	Weak transcription	HSMM	muscle
18	chr7:33542400-33574200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:33543000-33557000	Weak transcription	Gastric	stomach
20	chr7:33543200-33543600	Weak transcription	Brain Substantia Nigra	brain
21	chr7:33543200-33543800	Enhancers	Brain Anterior Caudate	brain
22	chr7:33543200-33544000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:33543200-33544200	Enhancers	Fetal Lung	lung
24	chr7:33543200-33548000	Weak transcription	Primary T cells from cord blood	blood
25	chr7:33543400-33543600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:33543400-33544000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:33543400-33544000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:33543400-33550600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:33543400-33555000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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