Variant report

Variant	rs2269877
Chromosome Location	chr4:7780712-7780713
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10516188	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10937859	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12501415	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12505487	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12509628	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12511332	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12511919	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12512093	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12512166	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16841110	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16841121	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16841150	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16841183	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16841209	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16841268	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16841283	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16841288	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2285763	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2285768	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34002186	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56177309	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6824231	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs730420	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73797315	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs877707	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9683902	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9790400	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9790478	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[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	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7758000-7780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:7758200-7783200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:7758400-7795400	Weak transcription	Hela-S3	cervix
4	chr4:7759400-7790400	Weak transcription	Psoas Muscle	Psoas
5	chr4:7760000-7783000	Strong transcription	HSMMtube	muscle
6	chr4:7760000-7783200	Strong transcription	HSMM	muscle
7	chr4:7761200-7781000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr4:7761400-7784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:7762000-7788000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:7762000-7805800	Weak transcription	Stomach Mucosa	stomach
11	chr4:7766800-7781200	Strong transcription	HUVEC	blood vessel
12	chr4:7767200-7780800	Strong transcription	NH-A	brain
13	chr4:7767600-7781000	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:7771600-7780800	Strong transcription	Pancreas	Pancrea
16	chr4:7772000-7783000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:7773600-7782800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:7773600-7783000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:7773600-7783600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr4:7773800-7783400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:7774000-7782800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr4:7774000-7783400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr4:7774200-7781600	Strong transcription	A549	lung
24	chr4:7774400-7781000	Weak transcription	Fetal Heart	heart
25	chr4:7774600-7783000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:7774600-7783400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:7775200-7782400	Strong transcription	Placenta	Placenta
28	chr4:7775400-7780800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:7775400-7783400	Weak transcription	Small Intestine	intestine
30	chr4:7775800-7780800	Strong transcription	NHDF-Ad	bronchial
31	chr4:7776000-7780800	Strong transcription	Fetal Intestine Large	intestine
32	chr4:7776000-7784400	Strong transcription	Fetal Intestine Small	intestine
33	chr4:7776200-7781000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:7776400-7780800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:7776400-7787200	Weak transcription	Fetal Brain Male	brain
36	chr4:7776400-7790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:7776400-7799000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:7776400-7800000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr4:7776400-7806800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:7776600-7783000	Weak transcription	Right Ventricle	heart
41	chr4:7776600-7783200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr4:7776600-7785400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr4:7777000-7783600	Strong transcription	HMEC	breast
44	chr4:7777000-7785800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:7777200-7783400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:7777400-7784200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:7778000-7781600	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr4:7778000-7783000	Weak transcription	Left Ventricle	heart
49	chr4:7778000-7784400	Strong transcription	Fetal Brain Female	brain
50	chr4:7778200-7780800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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