Variant report

Variant	rs2510793
Chromosome Location	chr4:95433065-95433066
allele	C/T
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:29)

rs_ID	r²[population]
rs1082513	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12645971	0.82[CEU][hapmap]
rs13110115	0.82[CEU][hapmap]
rs13143502	0.85[CEU][hapmap]
rs1493109	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1493111	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1845176	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2438140	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2452010	0.92[CEU][hapmap]
rs2452555	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2452563	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2452567	0.97[ASN][1000 genomes]
rs2452574	0.93[CEU][hapmap]
rs2452575	0.85[CEU][hapmap]
rs2510769	0.82[CEU][hapmap]
rs2510777	0.81[CEU][hapmap]
rs2510781	0.92[CEU][hapmap]
rs2510789	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2510796	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510797	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2555215	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2639794	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3792666	0.84[CEU][hapmap]
rs4699505	0.85[CEU][hapmap]
rs774984	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs774985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs774987	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs774990	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs774991	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:95400800-95440000	Weak transcription	Lung	lung
3	chr4:95415400-95440200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr4:95421200-95440000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:95421600-95440000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:95423200-95436600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:95429200-95435600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:95429400-95436800	Weak transcription	HSMM	muscle
10	chr4:95429400-95437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:95429600-95436800	Weak transcription	NHEK	skin
12	chr4:95429800-95436600	Weak transcription	HUVEC	blood vessel
13	chr4:95429800-95437400	Weak transcription	Aorta	Aorta
14	chr4:95429800-95437600	Weak transcription	Psoas Muscle	Psoas
15	chr4:95429800-95440000	Weak transcription	Esophagus	oesophagus
16	chr4:95429800-95440000	Weak transcription	Ovary	ovary
17	chr4:95430000-95437600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:95430000-95456200	Weak transcription	Small Intestine	intestine
19	chr4:95430200-95437400	Weak transcription	K562	blood
20	chr4:95430400-95433800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:95430400-95436200	Weak transcription	Fetal Intestine Small	intestine
22	chr4:95430400-95436200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:95430400-95436200	Weak transcription	NH-A	brain
24	chr4:95430400-95436400	Weak transcription	Fetal Intestine Large	intestine
25	chr4:95430400-95437000	Weak transcription	NHDF-Ad	bronchial
26	chr4:95430400-95437200	Weak transcription	HMEC	breast
27	chr4:95430600-95434800	Weak transcription	Liver	Liver
28	chr4:95430600-95435800	Weak transcription	Osteobl	bone
29	chr4:95430600-95440000	Weak transcription	Right Ventricle	heart
30	chr4:95430600-95444000	Weak transcription	HSMMtube	muscle
31	chr4:95430800-95436200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:95431200-95434800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:95431200-95436800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:95431200-95440000	Weak transcription	Pancreas	Pancrea
35	chr4:95431400-95435800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:95431400-95437200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:95431400-95438600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:95431800-95436200	Weak transcription	A549	lung
39	chr4:95431800-95436400	Weak transcription	Colon Smooth Muscle	Colon
40	chr4:95431800-95436600	Weak transcription	HepG2	liver
41	chr4:95431800-95437200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:95432000-95437000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:95432000-95437600	Weak transcription	Left Ventricle	heart
44	chr4:95432400-95435800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:95433000-95434200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:95433000-95435800	Weak transcription	Fetal Heart	heart
47	chr4:95433000-95437400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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