Variant report

Variant	rs13006926
Chromosome Location	chr2:63119967-63119968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:62931568..62934164-chr2:63117410..63120199,2	K562	blood:

Variant related genes	Relation type
ENSG00000115504	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1123508	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11687372	0.85[ASN][1000 genomes]
rs12474184	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12989477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs12991414	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13026938	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13027462	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2018650	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap]
rs2162011	0.86[CHB][hapmap]
rs2302567	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2710638	0.90[GIH][hapmap]
rs34506567	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35589581	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35617987	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35881827	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4671052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4671449	0.85[ASN][1000 genomes]
rs4671451	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs4671452	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671453	1.00[ASW][hapmap];0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4671454	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[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	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
4	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63102400-63146200	Weak transcription	Aorta	Aorta
2	chr2:63102600-63149800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:63102800-63130600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:63102800-63150200	Weak transcription	Esophagus	oesophagus
5	chr2:63104000-63147800	Weak transcription	Fetal Stomach	stomach
6	chr2:63104200-63126600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:63104400-63125000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:63104600-63133200	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:63105200-63126400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:63105800-63130000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:63105800-63130800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:63105800-63134000	Weak transcription	Osteobl	bone
13	chr2:63106000-63121600	Weak transcription	HMEC	breast
14	chr2:63106000-63131600	Weak transcription	Fetal Intestine Large	intestine
15	chr2:63106000-63149600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:63106200-63149400	Weak transcription	Ovary	ovary
17	chr2:63106400-63138000	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:63107000-63150200	Weak transcription	HSMM	muscle
19	chr2:63107200-63122000	Weak transcription	NHLF	lung
20	chr2:63107200-63141600	Weak transcription	Primary B cells from cord blood	blood
21	chr2:63107200-63146000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:63107200-63146000	Weak transcription	Left Ventricle	heart
23	chr2:63107400-63121400	Weak transcription	NHDF-Ad	bronchial
24	chr2:63107600-63125800	Weak transcription	Primary T cells from cord blood	blood
25	chr2:63108000-63122400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:63108000-63126200	Weak transcription	Adipose Nuclei	Adipose
27	chr2:63108200-63122200	Weak transcription	A549	lung
28	chr2:63108200-63129000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:63108200-63130000	Weak transcription	Brain Germinal Matrix	brain
30	chr2:63108200-63149200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:63108200-63149600	Weak transcription	Fetal Lung	lung
32	chr2:63108400-63123400	Weak transcription	Fetal Kidney	kidney
33	chr2:63108800-63124400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:63110600-63127200	Weak transcription	Dnd41	blood
35	chr2:63111400-63121800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:63111400-63125600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:63113000-63121200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:63115400-63123200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:63116000-63120000	Weak transcription	HepG2	liver
40	chr2:63116000-63122200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:63116000-63122400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:63118000-63121600	Weak transcription	Liver	Liver
43	chr2:63119000-63137000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:63119200-63121400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:63119800-63122000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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