Variant report

Variant	rs55694361
Chromosome Location	chr1:85312495-85312496
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12062882	1.00[EUR][1000 genomes]
rs12088935	1.00[EUR][1000 genomes]
rs55643822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55706573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55740600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55896911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56105173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718713	1.00[EUR][1000 genomes]
rs72718714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72718722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718728	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55694361	ZC3H7A	trans	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85289400-85330800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:85296600-85312800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:85304000-85313200	Weak transcription	Gastric	stomach
4	chr1:85305800-85313000	Weak transcription	Left Ventricle	heart
5	chr1:85305800-85313000	Weak transcription	Pancreas	Pancrea
6	chr1:85306200-85316000	Enhancers	Fetal Heart	heart
7	chr1:85308000-85312800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:85309000-85312800	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:85309000-85313000	Weak transcription	Right Atrium	heart
10	chr1:85309000-85313000	Weak transcription	Right Ventricle	heart
11	chr1:85309200-85312800	Weak transcription	Stomach Mucosa	stomach
12	chr1:85309600-85313400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:85310000-85312600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:85310000-85312600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:85310000-85313000	Weak transcription	Esophagus	oesophagus
16	chr1:85310200-85312800	Weak transcription	Fetal Stomach	stomach
17	chr1:85311400-85313800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:85311600-85313800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:85311600-85313800	Enhancers	Liver	Liver
20	chr1:85311600-85314600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:85311600-85317600	Enhancers	HMEC	breast
22	chr1:85311800-85313600	Enhancers	NHEK	skin
23	chr1:85311800-85313800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:85312000-85313600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:85312000-85313800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:85312000-85314200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:85312200-85312600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:85312200-85313200	Enhancers	Osteobl	bone
29	chr1:85312200-85313800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:85312200-85313800	Enhancers	NHDF-Ad	bronchial
31	chr1:85312200-85314000	Enhancers	Fetal Lung	lung
32	chr1:85312200-85314000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr1:85312200-85314200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:85312400-85312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:85312400-85312800	Weak transcription	Stomach Smooth Muscle	stomach

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