Variant report

Variant	rs2043006
Chromosome Location	chr2:100498128-100498129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10191077	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10194527	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10199548	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10865033	0.91[EUR][1000 genomes]
rs10865034	0.91[EUR][1000 genomes]
rs12478013	0.89[EUR][1000 genomes]
rs13416974	0.90[EUR][1000 genomes]
rs13423929	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1344701	0.91[EUR][1000 genomes]
rs1344702	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1346621	0.85[EUR][1000 genomes]
rs1366763	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1366766	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1429268	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1429269	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1594111	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1594113	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2871310	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4286327	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4481043	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4521099	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4850916	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4851235	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6542900	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6542901	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6542902	0.91[EUR][1000 genomes]
rs6542903	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6723474	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6725716	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6743473	0.91[EUR][1000 genomes]
rs6747845	0.91[EUR][1000 genomes]
rs6755396	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7560078	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7586604	0.91[EUR][1000 genomes]
rs7596023	0.86[AMR][1000 genomes];0.91[EUR][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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1003114	chr2:100480432-100601586	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100483000-100498400	Weak transcription	Aorta	Aorta
2	chr2:100483000-100507200	Weak transcription	Primary T cells from cord blood	blood
3	chr2:100484600-100498400	Weak transcription	Left Ventricle	heart
4	chr2:100492800-100498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:100493800-100500600	Enhancers	HUVEC	blood vessel
6	chr2:100493800-100502200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:100494200-100500400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:100494400-100498600	Enhancers	Fetal Brain Male	brain
9	chr2:100494400-100500600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:100494400-100500600	Enhancers	Fetal Kidney	kidney
11	chr2:100494400-100500600	Enhancers	Fetal Lung	lung
12	chr2:100494600-100498400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:100494600-100500000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:100494600-100500200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:100494800-100498600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:100495000-100498400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:100495000-100499600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:100495200-100498200	Weak transcription	Liver	Liver
19	chr2:100495200-100498400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:100495200-100498400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:100495200-100500400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:100495400-100498400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:100495600-100499000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:100495600-100500600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:100495600-100502800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:100495800-100498200	Weak transcription	Primary B cells from cord blood	blood
27	chr2:100496200-100498400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:100496600-100502600	Enhancers	Fetal Heart	heart
29	chr2:100496800-100498200	Weak transcription	Brain Angular Gyrus	brain
30	chr2:100496800-100498400	Flanking Active TSS	Fetal Brain Female	brain
31	chr2:100496800-100499400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:100497000-100498200	Weak transcription	NHDF-Ad	bronchial
33	chr2:100497200-100498200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:100497200-100498200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:100497200-100498200	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:100497200-100498400	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:100497200-100498400	Weak transcription	Ovary	ovary
38	chr2:100497200-100500200	Enhancers	Fetal Stomach	stomach
39	chr2:100497400-100498200	Enhancers	Brain Germinal Matrix	brain
40	chr2:100497400-100498400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:100497400-100498400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:100497400-100498400	Weak transcription	Lung	lung
43	chr2:100497400-100498600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:100497400-100498800	Enhancers	Brain Anterior Caudate	brain
45	chr2:100497400-100498800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:100497400-100498800	Weak transcription	HSMM	muscle
47	chr2:100497400-100499400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr2:100497400-100500400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr2:100497400-100500600	Enhancers	Osteobl	bone
50	chr2:100497400-100501400	Weak transcription	Right Atrium	heart

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