Variant report

Variant	rs2240903
Chromosome Location	chr17:34052157-34052158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34048945..34052195-chr17:34055634..34059515,4	K562	blood:

Variant related genes	Relation type
ENSG00000141150	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10491116	1.00[AFR][1000 genomes]
rs10512473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12600769	1.00[AFR][1000 genomes]
rs12604052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531057	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes]
rs16971128	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes]
rs16971271	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16971437	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2240902	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs2278951	1.00[AFR][1000 genomes]
rs3785760	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3785762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3826401	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3826403	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs56135703	1.00[AMR][1000 genomes]
rs72625914	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8065635	0.83[JPT][hapmap]
rs8081740	0.82[EUR][1000 genomes]
rs9915021	0.93[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908080	chr17:34027964-34054044	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2240903	CCL5	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:34024200-34056200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:34032600-34055800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr17:34034800-34053400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:34034800-34055600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr17:34035400-34056200	Strong transcription	A549	lung
7	chr17:34035800-34053000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:34036000-34055600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:34036400-34052200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:34036600-34055800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr17:34036800-34054800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr17:34037000-34053000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr17:34040000-34052800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr17:34040200-34055000	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr17:34040400-34054400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:34040600-34054800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr17:34040600-34055200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:34040600-34055600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:34040800-34053400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr17:34040800-34054400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr17:34040800-34054400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr17:34040800-34055000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:34040800-34055000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:34041400-34053000	Weak transcription	Right Atrium	heart
25	chr17:34042400-34053000	Strong transcription	K562	blood
26	chr17:34042800-34055400	Strong transcription	Primary T cells from cord blood	blood
27	chr17:34043000-34052600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:34043600-34052800	Strong transcription	HSMM	muscle
29	chr17:34043600-34053800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:34043800-34054600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr17:34044800-34055800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:34045000-34058000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr17:34046000-34054800	Strong transcription	Dnd41	blood
34	chr17:34046400-34052400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr17:34046400-34052400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:34046600-34056200	Strong transcription	HMEC	breast
37	chr17:34046800-34052600	Strong transcription	Left Ventricle	heart
38	chr17:34047000-34053000	Strong transcription	Brain Cingulate Gyrus	brain
39	chr17:34047200-34052800	Strong transcription	Hela-S3	cervix
40	chr17:34048000-34053200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr17:34048200-34055400	Strong transcription	Primary B cells from cord blood	blood
42	chr17:34048400-34052400	Strong transcription	Fetal Stomach	stomach
43	chr17:34048400-34053000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:34048400-34055600	Strong transcription	Primary hematopoietic stem cells	blood
45	chr17:34048600-34053000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr17:34049200-34052800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr17:34049600-34053000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr17:34049600-34053600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr17:34049800-34052400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr17:34049800-34053200	Strong transcription	GM12878-XiMat	blood

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