Variant report

Variant	rs10002792
Chromosome Location	chr4:148880898-148880899
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10025180	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039660	0.83[ASN][1000 genomes]
rs10519926	0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11945457	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024212	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2262881	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2306910	0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2575582	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2575584	0.83[YRI][hapmap]
rs2635259	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56834952	0.81[ASN][1000 genomes]
rs57437177	0.85[ASN][1000 genomes]
rs60635047	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7674116	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7682961	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9684012	0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1024596	chr4:148830472-148886915	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148826600-148888200	Weak transcription	Fetal Thymus	thymus
2	chr4:148850200-148890800	Weak transcription	HUVEC	blood vessel
3	chr4:148855400-148884800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:148856400-148889000	Weak transcription	Placenta	Placenta
5	chr4:148859400-148898000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:148861800-148883000	Weak transcription	Lung	lung
7	chr4:148861800-148883000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:148861800-148884800	Weak transcription	Esophagus	oesophagus
9	chr4:148861800-148885400	Weak transcription	Pancreas	Pancrea
10	chr4:148861800-148890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:148862800-148887800	Weak transcription	Fetal Intestine Large	intestine
12	chr4:148864200-148887200	Weak transcription	NHLF	lung
13	chr4:148864400-148896800	Weak transcription	Osteobl	bone
14	chr4:148864800-148891200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr4:148866400-148887400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:148866400-148889800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:148866400-148927400	Weak transcription	Thymus	Thymus
18	chr4:148866600-148882800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:148867200-148891200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:148867400-148882000	Weak transcription	HSMMtube	muscle
21	chr4:148868200-148902600	Weak transcription	NH-A	brain
22	chr4:148869200-148883000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:148869200-148883000	Weak transcription	GM12878-XiMat	blood
24	chr4:148869400-148883200	Weak transcription	Right Ventricle	heart
25	chr4:148870000-148884800	Weak transcription	Fetal Intestine Small	intestine
26	chr4:148872200-148883000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:148872400-148884400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:148873400-148884800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr4:148873600-148884800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:148873600-148885400	Weak transcription	Fetal Kidney	kidney
31	chr4:148874000-148885400	Weak transcription	Fetal Lung	lung
32	chr4:148877600-148884800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:148877600-148889600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:148877800-148883000	Weak transcription	Adipose Nuclei	Adipose
35	chr4:148877800-148884600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:148878000-148890600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:148878400-148883000	Weak transcription	Aorta	Aorta
38	chr4:148878400-148884800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:148878400-148890600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:148878400-148896400	Weak transcription	HMEC	breast
41	chr4:148878600-148896400	Weak transcription	NHEK	skin
42	chr4:148878800-148881800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:148878800-148885000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:148879400-148881800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:148879400-148883800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:148879400-148884400	Weak transcription	HSMM	muscle
47	chr4:148879400-148889200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:148879400-148890400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:148879400-148890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:148879600-148884800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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