Variant report

Variant	rs10519926
Chromosome Location	chr4:148889868-148889869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10002792	0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10025180	0.87[ASN][1000 genomes]
rs1039660	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10519933	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs11945457	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13435037	0.82[CEU][hapmap]
rs17024212	0.82[CEU][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2262881	0.82[ASW][hapmap];0.80[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.87[MEX][hapmap];0.89[ASN][1000 genomes]
rs2306910	0.82[CEU][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2635259	0.80[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.87[MEX][hapmap];0.87[ASN][1000 genomes]
rs56834952	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57437177	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60635047	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6535571	0.82[CEU][hapmap]
rs6811259	0.82[CEU][hapmap]
rs6856135	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs7674116	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7682961	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9684012	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148850200-148890800	Weak transcription	HUVEC	blood vessel
2	chr4:148859400-148898000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:148861800-148890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:148864400-148896800	Weak transcription	Osteobl	bone
5	chr4:148864800-148891200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:148866400-148927400	Weak transcription	Thymus	Thymus
7	chr4:148867200-148891200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:148868200-148902600	Weak transcription	NH-A	brain
9	chr4:148878000-148890600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:148878400-148890600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:148878400-148896400	Weak transcription	HMEC	breast
12	chr4:148878600-148896400	Weak transcription	NHEK	skin
13	chr4:148879400-148890400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:148879400-148890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:148879600-148891600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:148879800-148890800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:148879800-148891200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:148880000-148892400	Weak transcription	Psoas Muscle	Psoas
19	chr4:148880000-148892400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:148880200-148896600	Weak transcription	Fetal Heart	heart
21	chr4:148883400-148896400	Weak transcription	Gastric	stomach
22	chr4:148884400-148890400	Strong transcription	HSMM	muscle
23	chr4:148885200-148892600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:148885600-148905200	Weak transcription	Fetal Intestine Small	intestine
25	chr4:148885600-148905400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:148885600-148939000	Weak transcription	Pancreas	Pancrea
27	chr4:148885800-148890200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:148885800-148891000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:148885800-148896400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:148885800-148896400	Weak transcription	Lung	lung
31	chr4:148885800-148907000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr4:148885800-148912800	Weak transcription	Fetal Lung	lung
33	chr4:148886000-148890000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:148886000-148890200	Weak transcription	NHDF-Ad	bronchial
35	chr4:148886000-148890400	Weak transcription	Fetal Kidney	kidney
36	chr4:148886000-148890600	Weak transcription	Right Ventricle	heart
37	chr4:148886000-148917600	Weak transcription	Esophagus	oesophagus
38	chr4:148886400-148891000	Weak transcription	Fetal Stomach	stomach
39	chr4:148886800-148901800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:148887400-148891000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:148887600-148890200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:148887800-148891200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:148888200-148896600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:148888400-148890600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:148888600-148890200	Weak transcription	Stomach Mucosa	stomach
46	chr4:148888600-148890600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:148888600-148890800	Weak transcription	Fetal Thymus	thymus
48	chr4:148888600-148896200	Weak transcription	HSMMtube	muscle
49	chr4:148888800-148896200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:148888800-148896400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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