Variant report

Variant	rs2627801
Chromosome Location	chr4:143156127-143156128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10013734	0.87[TSI][hapmap]
rs10519633	0.87[TSI][hapmap]
rs10519638	0.87[TSI][hapmap]
rs1219266	0.93[CHD][hapmap];0.87[JPT][hapmap]
rs1219269	0.93[CHD][hapmap];0.87[JPT][hapmap]
rs1219270	0.93[CHD][hapmap];0.87[JPT][hapmap]
rs1219271	0.81[JPT][hapmap]
rs1219273	0.81[JPT][hapmap]
rs1219274	0.81[JPT][hapmap]
rs1219275	0.87[JPT][hapmap]
rs13109869	0.81[JPT][hapmap]
rs1343812	0.88[JPT][hapmap]
rs1390993	0.87[TSI][hapmap]
rs1390994	0.87[JPT][hapmap]
rs1497139	0.87[JPT][hapmap]
rs17015855	0.87[JPT][hapmap]
rs17654944	0.87[TSI][hapmap]
rs1907115	0.86[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs1907120	0.83[JPT][hapmap]
rs1907135	0.87[JPT][hapmap]
rs1907137	0.81[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs1994217	0.83[JPT][hapmap]
rs2130687	0.94[JPT][hapmap]
rs2200997	0.86[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap]
rs2627798	0.83[JPT][hapmap]
rs2627828	0.87[TSI][hapmap]
rs2627829	0.87[TSI][hapmap]
rs2636666	0.84[ASN][1000 genomes]
rs2636682	0.82[JPT][hapmap]
rs3113521	0.84[ASN][1000 genomes]
rs3113522	0.86[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs336384	0.90[CHD][hapmap];0.87[JPT][hapmap]
rs3775679	0.87[JPT][hapmap]
rs4501295	0.87[TSI][hapmap]
rs72939254	0.81[ASN][1000 genomes]
rs72939257	0.83[ASN][1000 genomes]
rs9308148	0.87[TSI][hapmap]
rs992257	0.90[CHD][hapmap];0.88[JPT][hapmap];0.84[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	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143128800-143157200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:143128800-143158600	Weak transcription	NHDF-Ad	bronchial
4	chr4:143129000-143157200	Weak transcription	Dnd41	blood
5	chr4:143129200-143157200	Weak transcription	NHEK	skin
6	chr4:143129200-143169600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:143130200-143157200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:143133600-143157200	Weak transcription	HMEC	breast
9	chr4:143135400-143184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:143139400-143157200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:143139400-143159600	Weak transcription	HSMMtube	muscle
12	chr4:143142200-143159800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:143143600-143159600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:143144000-143159200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:143145200-143157800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:143148600-143157200	Weak transcription	Primary T cells from cord blood	blood
17	chr4:143151000-143185000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:143151200-143174000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:143151400-143157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:143152400-143159000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:143152600-143157200	Weak transcription	HSMM	muscle
22	chr4:143152600-143157600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:143152600-143159600	Weak transcription	Fetal Heart	heart
24	chr4:143153000-143157200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:143153000-143158200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:143153800-143181000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:143154000-143157000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:143154400-143156200	Weak transcription	Left Ventricle	heart
29	chr4:143154400-143157200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:143155400-143156400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:143155400-143159200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr4:143155400-143159200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr4:143155800-143156200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:143156000-143156400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:143156000-143158600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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