Variant report

Variant	rs2703595
Chromosome Location	chr15:57490290-57490291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57489288..57492189-chr15:57492368..57494008,2	MCF-7	breast:
2	chr15:57489296..57493196-chr15:57493593..57496438,4	K562	blood:
3	chr15:57484373..57486425-chr15:57489732..57491739,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11071308	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs11856210	0.88[CEU][hapmap]
rs12050751	0.87[MKK][hapmap]
rs16977278	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs16977306	0.94[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16977374	0.82[CEU][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap]
rs1841695	0.82[EUR][1000 genomes]
rs2591068	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2593211	0.94[CEU][hapmap];0.86[TSI][hapmap]
rs2593249	0.82[CEU][hapmap]
rs2703593	0.94[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2703594	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2703614	0.81[TSI][hapmap]
rs2733310	0.94[ASW][hapmap];0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2733323	0.87[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs2733334	0.94[CEU][hapmap]
rs28536671	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3803453	0.81[TSI][hapmap]
rs7163126	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7164298	0.81[TSI][hapmap]
rs7164914	0.85[EUR][1000 genomes]
rs7173748	0.84[CEU][hapmap]
rs7179311	0.94[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7180558	0.82[CEU][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs7181399	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8024901	0.88[CEU][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs8026702	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs8034502	0.88[CEU][hapmap]
rs8034744	0.94[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.95[ASN][1000 genomes]
rs8037956	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs8039176	0.83[EUR][1000 genomes]
rs9672676	0.88[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.84[JPT][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs997683	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2703595	LOC283663	Cis_1M	lymphoblastoid	RTeQTL
rs2703595	TNFAIP8L3	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57439400-57491600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr15:57444400-57507400	Weak transcription	K562	blood
3	chr15:57450800-57491000	Weak transcription	Left Ventricle	heart
4	chr15:57451000-57490800	Weak transcription	NHEK	skin
5	chr15:57451200-57490400	Weak transcription	Ovary	ovary
6	chr15:57451600-57491200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:57452400-57490400	Weak transcription	Fetal Brain Female	brain
8	chr15:57453800-57524600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:57457200-57499400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:57458200-57505200	Strong transcription	Fetal Thymus	thymus
11	chr15:57459200-57492600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:57473600-57491200	Weak transcription	Gastric	stomach
13	chr15:57475800-57491000	Weak transcription	Colon Smooth Muscle	Colon
14	chr15:57476200-57490400	Weak transcription	HUVEC	blood vessel
15	chr15:57476200-57491200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr15:57477000-57492800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:57477200-57491000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr15:57478200-57493200	Weak transcription	HepG2	liver
19	chr15:57478600-57494000	Weak transcription	Pancreas	Pancrea
20	chr15:57478800-57490800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:57478800-57526200	Weak transcription	Hela-S3	cervix
22	chr15:57479000-57490400	Weak transcription	NH-A	brain
23	chr15:57479400-57490800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:57479400-57491000	Weak transcription	HSMM	muscle
25	chr15:57479400-57524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:57481800-57524600	Weak transcription	Right Ventricle	heart
27	chr15:57482400-57491200	Weak transcription	Fetal Brain Male	brain
28	chr15:57483000-57493800	Weak transcription	Colonic Mucosa	Colon
29	chr15:57484600-57493200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:57484800-57490400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:57484800-57490400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:57484800-57496200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:57484800-57502000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr15:57485000-57490800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:57485000-57490800	Weak transcription	Fetal Stomach	stomach
36	chr15:57485000-57491000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:57485000-57491200	Weak transcription	Esophagus	oesophagus
38	chr15:57485000-57501000	Weak transcription	Spleen	Spleen
39	chr15:57485000-57501800	Weak transcription	Lung	lung
40	chr15:57485000-57506200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:57485600-57505000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:57485800-57491200	Weak transcription	NHLF	lung
43	chr15:57485800-57493600	Weak transcription	A549	lung
44	chr15:57486000-57490400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr15:57486600-57491200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr15:57486600-57493400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr15:57486600-57496000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:57486800-57490600	Weak transcription	HMEC	breast
49	chr15:57486800-57490800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr15:57486800-57493000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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