Variant report

Variant	rs17362902
Chromosome Location	chr2:9768564-9768565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9752399..9758466-chr2:9767981..9772630,10	MCF-7	breast:
2	chr2:9767473..9774138-chr2:9774735..9780659,16	MCF-7	breast:
3	chr2:9562344..9563897-chr2:9768299..9770984,2	K562	blood:
4	chr2:9694267..9698929-chr2:9766642..9773016,9	K562	blood:
5	chr2:9767821..9771151-chr2:9909693..9912271,3	MCF-7	breast:
6	chr2:9695084..9698053-chr2:9768518..9772298,6	MCF-7	breast:
7	chr2:9767218..9769003-chr2:9785866..9787851,2	K562	blood:
8	chr2:9768532..9771052-chr2:10161123..10163614,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207086	Chromatin interaction
ENSG00000119185	Chromatin interaction
ENSG00000119203	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000243491	Chromatin interaction
ENSG00000260476	Chromatin interaction
ENSG00000240687	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10495571	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10495572	1.00[ASW][hapmap];0.95[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10495573	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11676903	1.00[CEU][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11692112	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11694314	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16867083	0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17362734	1.00[CEU][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17362839	0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453675	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453724	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17453752	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55883249	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56372340	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57234614	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57407838	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60319753	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60726087	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62119391	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62119392	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62119393	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62119422	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62119423	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62119428	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119429	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119431	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119432	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62119433	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17362902	IAH1	cis	parietal	SCAN
rs17362902	ADAM17	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9749000-9769200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:9754200-9768800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:9758000-9769400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:9761600-9768800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:9761800-9769400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:9763000-9768600	Genic enhancers	HepG2	liver
7	chr2:9764200-9768800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:9764200-9768800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr2:9764800-9769800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:9765400-9769000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:9765400-9769200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:9765600-9768800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:9765600-9769400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:9765800-9768800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:9765800-9769200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:9765800-9769600	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr2:9765800-9769600	Enhancers	Small Intestine	intestine
18	chr2:9765800-9770400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:9766200-9769000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:9766400-9768600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:9766400-9768600	Transcr. at gene 5' and 3'	Hela-S3	cervix
22	chr2:9766400-9768800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:9766400-9768800	Enhancers	Colon Smooth Muscle	Colon
24	chr2:9766400-9769000	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr2:9766400-9769200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
26	chr2:9766400-9769600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:9766800-9768800	Enhancers	Adipose Nuclei	Adipose
28	chr2:9766800-9768800	Genic enhancers	Fetal Kidney	kidney
29	chr2:9766800-9768800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
30	chr2:9766800-9768800	Genic enhancers	NHEK	skin
31	chr2:9766800-9770600	Transcr. at gene 5' and 3'	Dnd41	blood
32	chr2:9767000-9768600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:9767000-9768600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:9767000-9768600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
35	chr2:9767000-9768800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:9767000-9768800	Genic enhancers	K562	blood
37	chr2:9767000-9769400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:9767000-9769800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
39	chr2:9767000-9770400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:9767000-9770600	Transcr. at gene 5' and 3'	A549	lung
41	chr2:9767200-9768600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:9767200-9768800	Genic enhancers	Primary T cells from cord blood	blood
43	chr2:9767200-9768800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr2:9767200-9768800	Transcr. at gene 5' and 3'	NHLF	lung
45	chr2:9767200-9769000	Genic enhancers	Primary B cells from cord blood	blood
46	chr2:9767200-9769400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:9767400-9769000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:9767400-9769000	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr2:9767400-9769000	Transcr. at gene 5' and 3'	NH-A	brain
50	chr2:9767400-9769600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell

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