Variant report

Variant	rs7975149
Chromosome Location	chr12:41222779-41222780
allele	G/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]
rs10431586	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10735960	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735961	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11178843	0.87[EUR][1000 genomes]
rs12301919	0.87[EUR][1000 genomes]
rs1985044	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2034159	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2225314	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2772459	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2772460	0.82[EUR][1000 genomes]
rs7134512	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7300865	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7488448	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7958928	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7961659	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7980104	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7980964	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9325193	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[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	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3435443	chr12:41206734-41222972	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41214000-41223200	Weak transcription	NHEK	skin
2	chr12:41219400-41223400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:41220000-41223400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:41220200-41222800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:41220600-41223400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:41221400-41222800	Active TSS	Brain Substantia Nigra	brain
7	chr12:41221400-41224000	Active TSS	Brain Cingulate Gyrus	brain
8	chr12:41221400-41224000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:41221400-41224000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:41221600-41222800	Flanking Active TSS	A549	lung
11	chr12:41221600-41224000	Enhancers	HMEC	breast
12	chr12:41221800-41224600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:41222000-41222800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:41222000-41222800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:41222200-41223000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:41222200-41223000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:41222400-41224000	Active TSS	Brain Hippocampus Middle	brain
18	chr12:41222400-41224000	Active TSS	Fetal Brain Female	brain
19	chr12:41222600-41222800	Enhancers	Brain Anterior Caudate	brain
20	chr12:41222600-41222800	Enhancers	Fetal Brain Male	brain
21	chr12:41222600-41223600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:41222600-41223600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:41222600-41223800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:41222600-41224200	Enhancers	Pancreatic Islets	Pancreatic Islet

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