Variant report

Variant	rs1390989
Chromosome Location	chr4:142980610-142980611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11733314	1.00[CEU][hapmap]
rs13123435	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1355425	0.80[AFR][1000 genomes]
rs1397736	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1511251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1511252	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1511256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1845967	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1908923	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1908924	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645790	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645794	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645795	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645799	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645810	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645812	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645813	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645814	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667094	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667098	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667099	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667100	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2667104	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667105	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667108	0.80[AFR][1000 genomes]
rs336364	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336369	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs336371	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs336375	0.80[AFR][1000 genomes]
rs3775612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4956433	1.00[CEU][hapmap]
rs966893	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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
3	nsv830096	chr4:142867099-143023761	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv428775	chr4:142943213-143050195	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	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
6	nsv830097	chr4:142949705-143136372	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142945400-142983200	Weak transcription	Left Ventricle	heart
2	chr4:142948400-143029200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:142959200-142995600	Weak transcription	Fetal Heart	heart
4	chr4:142961800-143009600	Weak transcription	A549	lung
5	chr4:142962200-143002200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:142963400-143001000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:142963400-143002200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:142965200-142983400	Weak transcription	HMEC	breast
9	chr4:142966000-142987000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:142966000-142987600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:142966000-143010000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:142966000-143013800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:142974600-142987600	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:142976200-142982400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:142977400-142987400	Weak transcription	HSMMtube	muscle
16	chr4:142977400-142987600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:142977400-142987600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:142977600-142986200	Weak transcription	NHDF-Ad	bronchial
19	chr4:142978000-142986600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr4:142978000-142994000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:142978000-143002200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:142978200-142980800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:142978200-142983400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:142978200-142984200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:142978200-142986600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:142978200-142986800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:142978200-142987000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:142978200-142987600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:142978200-142987600	Weak transcription	HSMM	muscle
30	chr4:142978200-142997400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:142978200-143001400	Weak transcription	Dnd41	blood
32	chr4:142978200-143006200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:142978400-142983400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:142978600-142980800	Weak transcription	Primary T cells from cord blood	blood
35	chr4:142978800-142988800	Weak transcription	NHEK	skin
36	chr4:142979200-142994600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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