Variant report

Variant	rs9320604
Chromosome Location	chr6:117816045-117816046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117802434..117806380-chr6:117812352..117817630,8	MCF-7	breast:
2	chr6:117814171..117818032-chr6:117819476..117821620,3	MCF-7	breast:
3	chr6:117803821..117805941-chr6:117815599..117818460,3	MCF-7	breast:
4	chr6:117815504..117816324-chr7:152160688..152161657,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000164465	Chromatin interaction
ENSG00000261455	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10782186	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527127	0.99[ASN][1000 genomes]
rs2057314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2105907	0.86[ASN][1000 genomes]
rs2180811	0.85[CHB][hapmap];0.80[AMR][1000 genomes]
rs2354346	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2883418	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34431655	0.81[ASN][1000 genomes]
rs34882116	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4945586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946256	0.80[AMR][1000 genomes]
rs4946258	0.86[CHB][hapmap]
rs4946259	0.87[ASW][hapmap];0.93[CEU][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs4946260	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911915	0.91[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs6937083	0.80[AMR][1000 genomes]
rs6940922	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs929057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929058	0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs9374662	0.83[CHB][hapmap]
rs9374663	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs9387478	0.80[AMR][1000 genomes]
rs9387479	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9387481	0.96[ASN][1000 genomes]
rs9481728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9688361	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9320604	DCBLD1	cis	Adipose Subcutaneous	GTEx
rs9320604	DCBLD1	cis	multi-tissue	Pritchard
rs9320604	FAM26E	cis	parietal	SCAN
rs9320604	DCBLD1	cis	Thyroid	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117805200-117819400	Weak transcription	Small Intestine	intestine
2	chr6:117805200-117825600	Weak transcription	Lung	lung
3	chr6:117805200-117826600	Weak transcription	Esophagus	oesophagus
4	chr6:117805200-117851200	Weak transcription	Right Ventricle	heart
5	chr6:117805400-117819400	Weak transcription	Aorta	Aorta
6	chr6:117805600-117818800	Weak transcription	Fetal Kidney	kidney
7	chr6:117805600-117819400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:117805800-117825600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:117805800-117826200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:117806200-117819600	Weak transcription	Psoas Muscle	Psoas
11	chr6:117806200-117826400	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:117806200-117826600	Weak transcription	Pancreas	Pancrea
13	chr6:117806600-117817400	Weak transcription	HSMMtube	muscle
14	chr6:117808600-117819400	Weak transcription	Spleen	Spleen
15	chr6:117808600-117819600	Weak transcription	Fetal Stomach	stomach
16	chr6:117808800-117824400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:117808800-117826800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:117812400-117817400	Enhancers	HMEC	breast
19	chr6:117812400-117817800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:117812800-117820000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:117813000-117817400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:117813600-117816400	Enhancers	Fetal Intestine Large	intestine
23	chr6:117813600-117820600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:117813800-117817400	Enhancers	NH-A	brain
25	chr6:117814400-117820400	Enhancers	Fetal Lung	lung
26	chr6:117814600-117816200	Enhancers	Liver	Liver
27	chr6:117814800-117816400	Genic enhancers	HepG2	liver
28	chr6:117814800-117816400	Genic enhancers	HSMM	muscle
29	chr6:117814800-117816400	Enhancers	K562	blood
30	chr6:117814800-117817200	Enhancers	NHEK	skin
31	chr6:117815000-117816200	Weak transcription	Gastric	stomach
32	chr6:117815000-117816400	Enhancers	Duodenum Mucosa	Duodenum
33	chr6:117815000-117816400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:117815000-117819400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:117815000-117825600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:117815200-117817400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:117815400-117816200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:117815400-117816400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:117815400-117816400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:117815400-117816400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:117815400-117816400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr6:117815400-117816400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr6:117815400-117816400	Flanking Active TSS	NHDF-Ad	bronchial
44	chr6:117815600-117816200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:117815600-117816400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:117815600-117816400	Flanking Active TSS	Osteobl	bone
47	chr6:117815600-117817000	Enhancers	Stomach Mucosa	stomach
48	chr6:117815600-117821200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:117815800-117816200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr6:117815800-117816200	Enhancers	NHLF	lung

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