Variant report

Variant	rs10025044
Chromosome Location	chr4:143234754-143234755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10013303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024947	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10034842	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519642	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11945996	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16998530	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17015920	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1872296	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34991177	0.82[ASN][1000 genomes]
rs35157240	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35298298	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756121	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62328283	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62328284	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62328285	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62328295	0.85[ASN][1000 genomes]
rs6811427	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6812034	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6816219	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6817826	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6847957	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6850050	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6858661	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs960680	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9654253	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143200000-143240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:143210800-143235400	Weak transcription	Right Ventricle	heart
3	chr4:143215200-143235200	Weak transcription	Osteobl	bone
4	chr4:143215800-143235200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:143217600-143238600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:143217600-143260800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:143219400-143236600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:143221600-143234800	Weak transcription	Pancreas	Pancrea
9	chr4:143223600-143239200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:143224400-143234800	Strong transcription	Dnd41	blood
11	chr4:143225200-143235800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:143225400-143237400	Weak transcription	Ovary	ovary
13	chr4:143225400-143240200	Weak transcription	Esophagus	oesophagus
14	chr4:143229000-143235600	Strong transcription	NHEK	skin
15	chr4:143229400-143235600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:143231000-143235000	Weak transcription	Fetal Intestine Small	intestine
17	chr4:143231200-143235400	Weak transcription	Gastric	stomach
18	chr4:143231200-143235400	Weak transcription	Psoas Muscle	Psoas
19	chr4:143231400-143239400	Weak transcription	HSMMtube	muscle
20	chr4:143231800-143235400	Strong transcription	HSMM	muscle
21	chr4:143232000-143234800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:143232000-143236200	Strong transcription	HMEC	breast
23	chr4:143232200-143235000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:143232400-143235200	Weak transcription	Fetal Stomach	stomach
25	chr4:143232400-143236200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:143232600-143234800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr4:143232600-143235400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:143232800-143236200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:143233000-143234800	Genic enhancers	Fetal Muscle Leg	muscle
30	chr4:143233000-143236200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:143233200-143235400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr4:143233400-143235000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr4:143233600-143235000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr4:143233600-143236200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:143233800-143235200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr4:143233800-143236200	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr4:143233800-143241000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr4:143233800-143257200	Weak transcription	Left Ventricle	heart
39	chr4:143234000-143235000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:143234000-143235600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:143234000-143236000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr4:143234000-143236000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:143234000-143236200	Enhancers	Fetal Thymus	thymus
44	chr4:143234000-143236400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:143234000-143242000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:143234200-143235800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr4:143234200-143236000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr4:143234200-143240000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:143234400-143235000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:143234400-143235200	Enhancers	Colonic Mucosa	Colon

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