Variant report

Variant	rs4671051
Chromosome Location	chr2:63032696-63032697
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10153716	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1022110	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11682530	0.85[EUR][1000 genomes]
rs11893131	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12713467	0.83[EUR][1000 genomes]
rs12713468	0.82[EUR][1000 genomes]
rs12989754	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12994674	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13013218	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13418889	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1420018	0.84[EUR][1000 genomes]
rs1468748	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1553832	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17027429	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1828398	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs189671	0.81[EUR][1000 genomes]
rs2058566	0.83[EUR][1000 genomes]
rs2058567	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2080227	0.90[ASN][1000 genomes]
rs2136737	0.85[EUR][1000 genomes]
rs2215870	0.86[EUR][1000 genomes]
rs2421816	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2430388	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2539978	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2539984	0.88[ASN][1000 genomes]
rs2539985	0.84[EUR][1000 genomes]
rs2710637	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2710639	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2710640	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2710642	0.84[EUR][1000 genomes]
rs34104251	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3927201	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4461246	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4671050	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4671450	0.83[EUR][1000 genomes]
rs6545971	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6545972	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6545973	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6714241	0.90[ASN][1000 genomes]
rs7557501	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7562149	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7562734	0.90[EUR][1000 genomes]
rs7567923	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7571916	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7573756	0.83[EUR][1000 genomes]
rs7591708	0.85[ASN][1000 genomes]
rs9678329	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9789661	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9973612	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[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	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62982200-63033400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:63010800-63032800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:63017000-63033400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:63017000-63037400	Weak transcription	NHLF	lung
5	chr2:63017400-63032800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:63017400-63049400	Weak transcription	Fetal Heart	heart
7	chr2:63018200-63033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:63019600-63043400	Weak transcription	Brain Angular Gyrus	brain
9	chr2:63020600-63082000	Weak transcription	Pancreas	Pancrea
10	chr2:63020800-63040200	Weak transcription	Left Ventricle	heart
11	chr2:63022400-63040400	Weak transcription	NHEK	skin
12	chr2:63022400-63041000	Weak transcription	HSMM	muscle
13	chr2:63022600-63032800	Weak transcription	Fetal Intestine Small	intestine
14	chr2:63022800-63032800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:63022800-63032800	Weak transcription	Fetal Lung	lung
16	chr2:63022800-63033000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:63022800-63034400	Weak transcription	Primary B cells from cord blood	blood
18	chr2:63022800-63035800	Weak transcription	Fetal Kidney	kidney
19	chr2:63023800-63049000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:63024000-63032800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:63026200-63034200	Strong transcription	HepG2	liver
22	chr2:63027400-63032800	Weak transcription	Primary T cells from cord blood	blood
23	chr2:63028000-63037600	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:63028600-63033000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:63028600-63063400	Weak transcription	Brain Substantia Nigra	brain
26	chr2:63029400-63033600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:63029600-63032800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:63029600-63032800	Weak transcription	Liver	Liver
29	chr2:63029600-63033000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:63029600-63033000	Weak transcription	Adipose Nuclei	Adipose
31	chr2:63029600-63033200	Weak transcription	Ovary	ovary
32	chr2:63029600-63033600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:63029600-63033600	Weak transcription	Fetal Thymus	thymus
34	chr2:63029600-63034800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:63029600-63040600	Weak transcription	HMEC	breast
36	chr2:63030000-63033600	Weak transcription	GM12878-XiMat	blood
37	chr2:63030200-63032800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:63030400-63032800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:63031000-63083000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:63031200-63032800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:63031200-63032800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:63031200-63033400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:63031200-63033400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:63031200-63033600	Weak transcription	Osteobl	bone
45	chr2:63031400-63034200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:63031400-63082000	Weak transcription	Thymus	Thymus
47	chr2:63031600-63033400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:63031600-63033600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:63031600-63040800	Weak transcription	NH-A	brain
50	chr2:63031600-63053800	Weak transcription	Monocytes-CD14+_RO01746	blood

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