Variant report

Variant	rs17818842
Chromosome Location	chr8:120844782-120844783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120843931..120845591-chr8:120884671..120887601,2	MCF-7	breast:
2	chr1:201981419..201982038-chr8:120844641..120845409,2	Hela-S3	cervix:
3	chr8:120843501..120846699-chr8:120865917..120869113,7	MCF-7	breast:
4	chr8:120842870..120846971-chr8:120866583..120869973,4	MCF-7	breast:
5	chr15:81293167..81294163-chr8:120844729..120845419,2	Hela-S3	cervix:
6	chr1:153507948..153508566-chr8:120844632..120845145,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000136982	Chromatin interaction
ENSG00000245330	Chromatin interaction
ENSG00000140406	Chromatin interaction
ENSG00000155792	Chromatin interaction
ENSG00000163435	Chromatin interaction
ENSG00000197956	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10086801	0.84[ASN][1000 genomes]
rs10108101	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs10955939	0.84[ASN][1000 genomes]
rs11775062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11785572	1.00[ASN][1000 genomes]
rs11985347	1.00[ASN][1000 genomes]
rs11991780	0.84[ASN][1000 genomes]
rs11996390	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.85[ASN][1000 genomes]
rs11998531	0.93[ASN][1000 genomes]
rs12156318	0.85[ASN][1000 genomes]
rs1355174	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs16893214	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];1.00[ASN][1000 genomes]
rs16893240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16893243	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16893249	0.84[ASN][1000 genomes]
rs16893252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17818097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17818440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17818446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2063283	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2063284	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];1.00[ASN][1000 genomes]
rs55776270	0.84[ASN][1000 genomes]
rs55889147	0.84[ASN][1000 genomes]
rs56180159	0.85[ASN][1000 genomes]
rs58900911	0.84[ASN][1000 genomes]
rs61438417	1.00[ASN][1000 genomes]
rs62526566	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62526598	0.85[ASN][1000 genomes]
rs62526601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62526606	0.85[ASN][1000 genomes]
rs62526620	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526621	0.84[ASN][1000 genomes]
rs62526623	0.84[ASN][1000 genomes]
rs62526624	0.84[ASN][1000 genomes]
rs62526625	0.84[ASN][1000 genomes]
rs62526635	0.84[ASN][1000 genomes]
rs62526636	0.84[ASN][1000 genomes]
rs62526637	0.84[ASN][1000 genomes]
rs62526638	0.84[ASN][1000 genomes]
rs62526639	0.84[ASN][1000 genomes]
rs62526640	0.84[ASN][1000 genomes]
rs62526641	0.84[ASN][1000 genomes]
rs62526642	0.84[ASN][1000 genomes]
rs6469845	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs6469856	1.00[CHB][hapmap]
rs6469858	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6981251	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6982092	0.84[ASN][1000 genomes]
rs6987018	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs6987100	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6987160	0.84[ASN][1000 genomes]
rs6987389	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6988621	1.00[ASN][1000 genomes]
rs6989803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6994085	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs6995594	1.00[ASN][1000 genomes]
rs6999808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7002440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7002501	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs7003687	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7007123	0.84[ASN][1000 genomes]
rs7007265	0.84[ASN][1000 genomes]
rs7007320	1.00[CHB][hapmap]
rs7007970	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72690112	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690123	0.84[ASN][1000 genomes]
rs72690128	0.84[ASN][1000 genomes]
rs72690134	0.84[ASN][1000 genomes]
rs72690137	0.84[ASN][1000 genomes]
rs73705442	0.84[ASN][1000 genomes]
rs7813113	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7815122	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7815389	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7823836	0.84[ASN][1000 genomes]
rs7823910	0.84[ASN][1000 genomes]
rs7823917	0.84[ASN][1000 genomes]
rs7827811	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7828086	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7831639	0.93[ASN][1000 genomes]
rs7837894	1.00[JPT][hapmap]
rs7838465	0.85[ASN][1000 genomes]
rs7843080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7843579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9297606	0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs953614	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9650078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers 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	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription 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	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17818842	DSCC1	cis	cerebellum	SCAN
rs17818842	DEPDC6	cis	parietal	SCAN
rs17818842	DSCC1	cis	parietal	SCAN
rs17818842	DEPDC6	cis	cerebellum	SCAN
rs17818842	TAF2	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120843400-120846000	Active TSS	GM12878-XiMat	blood
2	chr8:120843600-120845800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:120843600-120845800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:120843600-120845800	Active TSS	NH-A	brain
5	chr8:120843600-120846000	Active TSS	K562	blood
6	chr8:120843800-120845800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:120843800-120845800	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr8:120844000-120844800	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr8:120844000-120844800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:120844000-120844800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:120844000-120845600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr8:120844000-120845600	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr8:120844000-120845600	Active TSS	Fetal Heart	heart
14	chr8:120844000-120845600	Active TSS	Psoas Muscle	Psoas
15	chr8:120844000-120845600	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr8:120844000-120845800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:120844000-120845800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:120844000-120845800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:120844000-120845800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:120844000-120845800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr8:120844000-120845800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:120844000-120845800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:120844000-120845800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:120844000-120845800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:120844000-120845800	Active TSS	Thymus	Thymus
26	chr8:120844000-120846000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:120844000-120846000	Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr8:120844000-120846000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:120844000-120846000	Active TSS	HSMM	muscle
30	chr8:120844000-120846000	Active TSS	NHEK	skin
31	chr8:120844000-120846200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:120844000-120846200	Active TSS	Fetal Brain Female	brain
33	chr8:120844000-120846200	Active TSS	NHLF	lung
34	chr8:120844000-120846400	Active TSS	A549	lung
35	chr8:120844200-120844800	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr8:120844200-120844800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr8:120844200-120845000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr8:120844200-120845400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:120844200-120845400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:120844200-120845600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:120844200-120845600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:120844200-120845600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:120844200-120845600	Active TSS	Aorta	Aorta
44	chr8:120844200-120845600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr8:120844200-120845800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:120844200-120845800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr8:120844200-120845800	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr8:120844200-120845800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:120844200-120845800	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr8:120844200-120845800	Active TSS	Brain Anterior Caudate	brain

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