Variant report

Variant	rs73938614
Chromosome Location	chr2:67622996-67622997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10175527	0.88[EUR][1000 genomes]
rs12471398	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13390493	0.81[EUR][1000 genomes]
rs13424211	0.82[EUR][1000 genomes]
rs13433029	0.86[EUR][1000 genomes]
rs56225803	0.81[AMR][1000 genomes]
rs56257222	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[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	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67606600-67624200	Weak transcription	Pancreas	Pancrea
2	chr2:67617400-67624200	Weak transcription	Aorta	Aorta
3	chr2:67617600-67624000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:67618600-67624000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:67618800-67624000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:67620200-67624000	Enhancers	HUVEC	blood vessel
7	chr2:67620400-67624000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:67620400-67624200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:67621000-67624400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:67622000-67623800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:67622000-67624200	Weak transcription	NHLF	lung
12	chr2:67622000-67624400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:67622200-67624200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:67622400-67623800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:67622400-67624000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:67622400-67624000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:67622400-67624000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:67622400-67624000	Weak transcription	NH-A	brain
19	chr2:67622400-67624200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:67622400-67624200	Weak transcription	HSMMtube	muscle
21	chr2:67622600-67624000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:67622600-67624000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:67622600-67624000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:67622600-67624000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:67622600-67624000	Weak transcription	A549	lung
26	chr2:67622600-67624000	Weak transcription	Hela-S3	cervix
27	chr2:67622600-67624000	Weak transcription	HMEC	breast
28	chr2:67622600-67624000	Weak transcription	NHEK	skin
29	chr2:67622600-67624000	Weak transcription	Osteobl	bone
30	chr2:67622600-67624200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:67622600-67624200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:67622600-67624200	Weak transcription	HSMM	muscle
33	chr2:67622600-67624200	Weak transcription	NHDF-Ad	bronchial
34	chr2:67622800-67624000	Weak transcription	Muscle Satellite Cultured Cells	--

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