Variant report

Variant	rs62182435
Chromosome Location	chr2:172779877-172779878
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172777448..172780686-chr2:172863264..172866650,5	K562	blood:
2	chr2:172690324..172692535-chr2:172778951..172781144,3	K562	blood:
3	chr2:172779206..172781039-chr2:172947710..172950652,2	K562	blood:
4	chr2:172776261..172781039-chr2:172946394..172953961,9	K562	blood:
5	chr2:172777519..172781580-chr2:172819100..172823049,4	K562	blood:
6	chr2:172778049..172781927-chr2:172965294..172970550,9	K562	blood:
7	chr2:172777448..172780536-chr2:172864307..172867165,5	K562	blood:
8	chr2:172777989..172784973-chr2:172962042..172968003,11	K562	blood:
9	chr2:172749385..172752362-chr2:172779098..172783248,3	MCF-7	breast:
10	chr2:172749065..172752809-chr2:172776821..172780584,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction
ENSG00000128708	Chromatin interaction
ENSG00000115844	Chromatin interaction
ENSG00000144355	Chromatin interaction
ENSG00000172878	Chromatin interaction
ENSG00000236651	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11675404	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11678018	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11681005	0.82[AFR][1000 genomes]
rs11691301	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11695630	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2083854	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34137430	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62182397	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62182402	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62182443	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62183760	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62183768	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62183773	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62183777	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62183803	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62183807	0.82[AFR][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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv536037	chr2:172745597-172780616	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62182435	ENSG00000128708	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172778200-172780000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:172778200-172780000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:172778400-172780000	Active TSS	H1 Cell Line	embryonic stem cell
4	chr2:172778400-172780000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:172778400-172780000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:172778400-172780000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:172778400-172780000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:172778400-172780000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:172778400-172780000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:172778400-172780000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr2:172778400-172780000	Active TSS	Brain Angular Gyrus	brain
12	chr2:172778400-172780000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:172778400-172780000	Active TSS	Colonic Mucosa	Colon
14	chr2:172778400-172780000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:172778400-172780000	Active TSS	Fetal Lung	lung
16	chr2:172778400-172780000	Active TSS	Psoas Muscle	Psoas
17	chr2:172778400-172780000	Active TSS	Right Ventricle	heart
18	chr2:172778400-172780000	Active TSS	HMEC	breast
19	chr2:172778400-172780000	Active TSS	HSMMtube	muscle
20	chr2:172778400-172780000	Active TSS	NHDF-Ad	bronchial
21	chr2:172778400-172780000	Active TSS	NHLF	lung
22	chr2:172778400-172780200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr2:172778400-172780200	Active TSS	Ovary	ovary
24	chr2:172778400-172780200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr2:172778400-172780400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:172778400-172780400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr2:172778400-172780400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:172778400-172780400	Active TSS	Right Atrium	heart
29	chr2:172778400-172780800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:172778600-172780000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:172778600-172780000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:172778600-172780000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:172778600-172780000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:172778600-172780000	Active TSS	Esophagus	oesophagus
35	chr2:172778600-172780000	Active TSS	Fetal Intestine Small	intestine
36	chr2:172778600-172780000	Active TSS	Placenta Amnion	Placenta Amnion
37	chr2:172778600-172780000	Active TSS	A549	lung
38	chr2:172778600-172780000	Active TSS	K562	blood
39	chr2:172778600-172780200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:172778600-172780200	Active TSS	Pancreas	Pancrea
41	chr2:172778600-172780200	Active TSS	Hela-S3	cervix
42	chr2:172778600-172780800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:172778800-172780000	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr2:172778800-172780000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:172778800-172780000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr2:172778800-172780000	Active TSS	Fetal Kidney	kidney
47	chr2:172778800-172780000	Active TSS	HSMM	muscle
48	chr2:172778800-172780000	Active TSS	NH-A	brain
49	chr2:172778800-172780000	Active TSS	Osteobl	bone
50	chr2:172778800-172780200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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