Variant report

Variant	rs73242785
Chromosome Location	chr12:8789716-8789717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11046380	1.00[ASN][1000 genomes]
rs11046393	1.00[ASN][1000 genomes]
rs11832680	1.00[EUR][1000 genomes]
rs12296100	1.00[ASN][1000 genomes]
rs12303273	1.00[ASN][1000 genomes]
rs12306895	1.00[EUR][1000 genomes]
rs12824576	1.00[ASN][1000 genomes]
rs12826733	1.00[ASN][1000 genomes]
rs28386919	1.00[ASN][1000 genomes]
rs34079958	1.00[ASN][1000 genomes]
rs34817631	1.00[ASN][1000 genomes]
rs35384062	1.00[ASN][1000 genomes]
rs56776129	1.00[ASN][1000 genomes]
rs6487313	1.00[ASN][1000 genomes]
rs66552846	1.00[ASN][1000 genomes]
rs71447520	1.00[ASN][1000 genomes]
rs71447521	1.00[ASN][1000 genomes]
rs73242788	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242789	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244411	1.00[ASN][1000 genomes]

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	nsv1044543	chr12:8449100-8792569	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1048336	chr12:8663355-8797018	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv973017	chr12:8787931-8790231	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8783000-8795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:8783000-8797600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:8783400-8797200	Weak transcription	HSMMtube	muscle
4	chr12:8787400-8790200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:8787800-8790200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:8788000-8798600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:8788400-8790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:8788800-8791000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:8789000-8789800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:8789000-8790400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:8789200-8789800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:8789200-8789800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:8789200-8790600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr12:8789200-8790600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr12:8789200-8790600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:8789200-8790600	Enhancers	NHEK	skin
17	chr12:8789200-8790800	Enhancers	Esophagus	oesophagus
18	chr12:8789400-8790200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:8789400-8791400	Enhancers	Fetal Thymus	thymus
20	chr12:8789400-8792000	Weak transcription	Placenta	Placenta
21	chr12:8789600-8789800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr12:8789600-8790200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:8789600-8790400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:8789600-8791200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:8789600-8792000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:8789600-8792000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:8789600-8813400	Weak transcription	Fetal Muscle Leg	muscle

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