Variant report

Variant	rs60678479
Chromosome Location	chr4:143205763-143205764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17015855	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17015870	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1907115	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2200997	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291337	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775688	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67815203	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72722473	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72722479	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73850832	0.99[ASN][1000 genomes]
rs73850834	0.99[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:35 , 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	chr4:143192200-143206000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr4:143196000-143225200	Weak transcription	NHDF-Ad	bronchial
6	chr4:143199400-143230800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:143200000-143215000	Weak transcription	HSMMtube	muscle
8	chr4:143200000-143240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:143200200-143210600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:143202000-143207400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:143203200-143206800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr4:143203800-143205800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr4:143203800-143206200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:143203800-143206400	Weak transcription	Aorta	Aorta
15	chr4:143203800-143207400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:143204000-143206600	Weak transcription	Pancreas	Pancrea
17	chr4:143204000-143230600	Weak transcription	Left Ventricle	heart
18	chr4:143204200-143205800	Enhancers	Primary T cells from cord blood	blood
19	chr4:143204200-143209000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:143204200-143209200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:143204200-143210600	Weak transcription	HMEC	breast
22	chr4:143204200-143229000	Weak transcription	NHEK	skin
23	chr4:143204400-143206800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr4:143204600-143233600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr4:143204800-143206600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:143204800-143212600	Weak transcription	HSMM	muscle
27	chr4:143205000-143206200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:143205200-143206000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:143205200-143206600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr4:143205400-143205800	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr4:143205400-143206000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr4:143205400-143206000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:143205600-143206000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:143205600-143206000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:143205600-143206000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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