Variant report

Variant	rs2130685
Chromosome Location	chr4:143217318-143217319
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10029437	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1219266	1.00[CEU][hapmap];0.96[TSI][hapmap]
rs1219268	1.00[CEU][hapmap]
rs1219269	1.00[CEU][hapmap];0.96[TSI][hapmap]
rs1219270	1.00[CEU][hapmap];0.96[TSI][hapmap]
rs13120882	0.82[LWK][hapmap];0.83[YRI][hapmap]
rs1390994	1.00[CEU][hapmap]
rs1497139	1.00[CEU][hapmap]
rs1532450	1.00[CEU][hapmap]
rs1907109	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1907113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1907117	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1907119	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1907135	1.00[CEU][hapmap]
rs1907137	0.87[CEU][hapmap]
rs1948323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2172023	0.94[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2627812	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2627816	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2627817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2627834	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2627835	0.87[CEU][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2627836	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2636632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2636635	0.92[AMR][1000 genomes]
rs2636637	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs2636641	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2636642	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2636643	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2636647	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2636652	0.84[ASW][hapmap];1.00[CHD][hapmap];0.94[LWK][hapmap];0.82[MEX][hapmap];0.97[MKK][hapmap];0.83[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2636655	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2636656	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2636657	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2636660	1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2636679	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2636685	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102436	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3102437	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3102439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102443	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3102444	0.94[EUR][1000 genomes]
rs3102446	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3113511	1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3113513	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3113515	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3113522	0.87[CEU][hapmap]
rs336384	1.00[CEU][hapmap];0.96[TSI][hapmap]
rs336393	0.81[TSI][hapmap]
rs336394	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs336400	0.81[CEU][hapmap]
rs336402	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs336405	0.81[CEU][hapmap]
rs336406	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs336408	0.88[TSI][hapmap]
rs992257	0.85[TSI][hapmap]

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	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	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	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
6	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143187400-143218600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:143192000-143219400	Weak transcription	Dnd41	blood
3	chr4:143196000-143225200	Weak transcription	NHDF-Ad	bronchial
4	chr4:143199400-143230800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:143200000-143240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:143204000-143230600	Weak transcription	Left Ventricle	heart
7	chr4:143204200-143229000	Weak transcription	NHEK	skin
8	chr4:143204600-143233600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:143206000-143233400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:143207000-143223200	Weak transcription	Aorta	Aorta
11	chr4:143208800-143220400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:143209200-143226400	Weak transcription	Fetal Heart	heart
13	chr4:143209800-143229000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:143210800-143235400	Weak transcription	Right Ventricle	heart
15	chr4:143211000-143220000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:143211600-143224600	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:143212800-143218000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:143214200-143220000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:143214200-143230600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:143214600-143219000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:143214800-143218200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:143215200-143235200	Weak transcription	Osteobl	bone
23	chr4:143215400-143217400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr4:143215600-143225000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:143215800-143235200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:143216000-143220000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:143216200-143217400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr4:143216200-143234600	Weak transcription	Thymus	Thymus
29	chr4:143216600-143217800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:143216600-143219200	Weak transcription	HMEC	breast
31	chr4:143216600-143233600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr4:143216800-143217600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:143216800-143220000	Weak transcription	HSMMtube	muscle
34	chr4:143216800-143224800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr4:143217000-143217400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:143217000-143217400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr4:143217000-143217800	Weak transcription	Primary T cells from cord blood	blood
38	chr4:143217000-143218800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:143217000-143220600	Strong transcription	HSMM	muscle
40	chr4:143217000-143222600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr4:143217200-143218000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:143217200-143218000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:143217200-143218800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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