Variant report

Variant	rs62318556
Chromosome Location	chr4:76724040-76724041
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10028291	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10031616	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10033315	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10212995	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11097112	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11097113	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11097122	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11728073	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11730896	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11938067	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11943497	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12505149	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13102733	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13110602	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13133144	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13133472	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13145290	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2047989	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2271472	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2869175	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324719	0.82[AFR][1000 genomes]
rs3796481	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4446339	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4859406	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4859408	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4859409	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4859552	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4859554	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4859555	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6531901	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6843016	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6845147	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6846575	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6847333	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7655464	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7665517	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs905954	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs987561	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:76652400-76725000	Weak transcription	Hela-S3	cervix
3	chr4:76671000-76739400	Weak transcription	Stomach Mucosa	stomach
4	chr4:76675000-76727400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:76676400-76730600	Weak transcription	Spleen	Spleen
6	chr4:76677000-76736200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:76685800-76738400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:76688200-76738200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:76697600-76734400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:76698000-76735400	Weak transcription	Small Intestine	intestine
11	chr4:76698800-76725000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:76699000-76725400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:76701200-76725200	Weak transcription	Thymus	Thymus
14	chr4:76704800-76725200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:76705000-76730800	Weak transcription	Fetal Heart	heart
16	chr4:76705800-76725200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:76705800-76730600	Weak transcription	Fetal Brain Female	brain
18	chr4:76706000-76730600	Weak transcription	Aorta	Aorta
19	chr4:76706000-76732000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:76706000-76732000	Weak transcription	Gastric	stomach
21	chr4:76706200-76725000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:76707800-76738600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:76708400-76725200	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:76708400-76735400	Weak transcription	Right Ventricle	heart
25	chr4:76710800-76729400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:76711800-76729400	Weak transcription	Fetal Brain Male	brain
27	chr4:76711800-76729400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:76712200-76729600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:76712200-76730600	Weak transcription	Brain Angular Gyrus	brain
30	chr4:76712400-76725000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:76712400-76729200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:76712600-76730600	Weak transcription	Brain Germinal Matrix	brain
33	chr4:76712600-76735600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:76713800-76730800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:76715000-76724200	Weak transcription	Fetal Stomach	stomach
36	chr4:76715000-76725200	Weak transcription	Lung	lung
37	chr4:76715000-76725200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:76715000-76730800	Weak transcription	Pancreas	Pancrea
39	chr4:76715000-76734000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:76715000-76734600	Weak transcription	Esophagus	oesophagus
41	chr4:76715400-76725200	Weak transcription	HepG2	liver
42	chr4:76715800-76725200	Weak transcription	Primary T cells from cord blood	blood
43	chr4:76716000-76737000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:76716400-76725000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:76716800-76725200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:76718200-76735600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:76720400-76737000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:76720400-76738200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:76720600-76737000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr4:76720600-76737000	Strong transcription	Osteobl	bone

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