Variant report

Variant	rs2043840
Chromosome Location	chr5:142758075-142758076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:142727870..142729788-chr5:142756178..142758195,2	K562	blood:
2	chr5:142752123..142755122-chr5:142756679..142758304,2	K562	blood:
3	chr5:142757061..142759968-chr5:142781467..142783841,2	K562	blood:

Variant related genes	Relation type
ENSG00000113580	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10052957	1.00[JPT][hapmap]
rs10482614	0.82[ASN][1000 genomes]
rs11747997	0.95[ASN][1000 genomes]
rs11749561	1.00[JPT][hapmap]
rs1438732	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1635475	0.80[ASN][1000 genomes]
rs17100167	1.00[EUR][1000 genomes]
rs174048	0.95[ASN][1000 genomes]
rs174050	0.95[ASN][1000 genomes]
rs1837262	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1866388	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs190488	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs258748	0.95[ASN][1000 genomes]
rs258750	1.00[JPT][hapmap]
rs258751	0.95[ASN][1000 genomes]
rs258752	0.80[ASN][1000 genomes]
rs258753	0.85[JPT][hapmap]
rs258813	1.00[JPT][hapmap]
rs258814	0.95[ASN][1000 genomes]
rs2918415	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2918416	1.00[JPT][hapmap]
rs2918417	1.00[JPT][hapmap]
rs2918418	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2918419	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2963148	1.00[ASN][1000 genomes]
rs2963149	1.00[JPT][hapmap]
rs2963150	1.00[ASN][1000 genomes]
rs2963151	1.00[JPT][hapmap]
rs2963154	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs33380	1.00[ASN][1000 genomes]
rs33381	1.00[ASN][1000 genomes]
rs33382	1.00[ASN][1000 genomes]
rs33389	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6188	1.00[JPT][hapmap]
rs6194	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6196	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6861962	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6865608	1.00[EUR][1000 genomes]
rs712189	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs72801090	0.95[ASN][1000 genomes]
rs852977	1.00[JPT][hapmap]
rs852978	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs852979	0.93[ASN][1000 genomes]
rs852982	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs852984	1.00[ASN][1000 genomes]
rs853156	0.80[ASN][1000 genomes]
rs853157	1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs853176	0.80[ASN][1000 genomes]
rs853179	0.83[ASN][1000 genomes]
rs853182	0.95[ASN][1000 genomes]
rs853184	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs860457	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs860458	0.95[ASN][1000 genomes]
rs864082	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs864355	0.83[ASN][1000 genomes]
rs865482	0.95[ASN][1000 genomes]
rs9324918	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv969982	chr5:142757204-142762618	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142725000-142764200	Weak transcription	Lung	lung
2	chr5:142739400-142763600	Weak transcription	Thymus	Thymus
3	chr5:142741600-142771600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:142742600-142762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:142742800-142758800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:142743200-142764200	Weak transcription	HepG2	liver
7	chr5:142744000-142762200	Weak transcription	K562	blood
8	chr5:142744600-142762400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:142745400-142764200	Weak transcription	Fetal Stomach	stomach
10	chr5:142746200-142760000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:142747800-142762000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:142747800-142762200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:142748800-142761400	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:142748800-142762200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:142749200-142761200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:142749800-142758800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:142750400-142764200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:142751200-142764600	Weak transcription	Gastric	stomach
19	chr5:142752400-142764600	Weak transcription	Brain Angular Gyrus	brain
20	chr5:142752800-142762000	Weak transcription	Fetal Lung	lung
21	chr5:142752800-142763600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:142753200-142763000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:142753600-142763600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:142754400-142762800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr5:142754600-142760000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:142754600-142762000	Weak transcription	Primary B cells from cord blood	blood
27	chr5:142754800-142761200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:142754800-142762000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:142754800-142764000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:142755000-142761400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:142755400-142759400	Enhancers	NHDF-Ad	bronchial
32	chr5:142755400-142763400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr5:142755800-142758200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:142755800-142759200	Enhancers	Fetal Intestine Small	intestine
35	chr5:142756200-142762000	Weak transcription	Liver	Liver
36	chr5:142756400-142760800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr5:142756600-142766400	Weak transcription	Pancreas	Pancrea
38	chr5:142756800-142758200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:142756800-142759600	Genic enhancers	GM12878-XiMat	blood
40	chr5:142756800-142763200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr5:142757000-142759600	Weak transcription	Primary T cells from cord blood	blood
42	chr5:142757000-142760400	Genic enhancers	Dnd41	blood
43	chr5:142757000-142762400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:142757000-142763800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr5:142757000-142763800	Weak transcription	Right Atrium	heart
46	chr5:142757000-142764200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:142757000-142764200	Weak transcription	Ovary	ovary
48	chr5:142757200-142758400	Weak transcription	Brain Anterior Caudate	brain
49	chr5:142757200-142758600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:142757200-142758800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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