Variant report

Variant	rs3775679
Chromosome Location	chr4:143207623-143207624
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11100745	0.87[JPT][hapmap]
rs1219271	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1219273	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1219274	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs13109869	0.82[JPT][hapmap]
rs13120882	0.87[JPT][hapmap]
rs17015855	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17015870	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1907115	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1907137	0.83[JPT][hapmap]
rs2130687	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs2200997	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291337	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2627801	0.87[JPT][hapmap]
rs3113522	0.82[JPT][hapmap]
rs3775669	0.86[JPT][hapmap]
rs3775688	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3822146	0.87[JPT][hapmap]
rs60678479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67815203	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72722473	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72722479	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72939266	0.81[ASN][1000 genomes]
rs72939272	0.81[ASN][1000 genomes]
rs73850832	1.00[ASN][1000 genomes]
rs73850834	1.00[ASN][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	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

No data

Chromatin state (count:34 , 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	chr4:143192000-143210600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:143192000-143219400	Weak transcription	Dnd41	blood
4	chr4:143196000-143225200	Weak transcription	NHDF-Ad	bronchial
5	chr4:143199400-143230800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:143200000-143215000	Weak transcription	HSMMtube	muscle
7	chr4:143200000-143240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:143200200-143210600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:143204000-143230600	Weak transcription	Left Ventricle	heart
10	chr4:143204200-143209000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:143204200-143209200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:143204200-143210600	Weak transcription	HMEC	breast
13	chr4:143204200-143229000	Weak transcription	NHEK	skin
14	chr4:143204600-143233600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:143204800-143212600	Weak transcription	HSMM	muscle
16	chr4:143206000-143208200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:143206000-143233400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:143206400-143208200	Weak transcription	Primary T cells from cord blood	blood
19	chr4:143206400-143208400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:143206600-143209400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr4:143206800-143207800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:143206800-143210600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:143206800-143210800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:143206800-143211000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:143206800-143215600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:143206800-143216200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:143207000-143208000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:143207000-143209000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:143207000-143211400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr4:143207000-143223200	Weak transcription	Aorta	Aorta
31	chr4:143207200-143208000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:143207400-143208200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:143207400-143208600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:143207400-143214800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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