Variant report

Variant	rs929057
Chromosome Location	chr6:117818911-117818912
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117801194..117803836-chr6:117817608..117819346,2	K562	blood:
2	chr6:117810311..117812816-chr6:117817212..117819434,2	MCF-7	breast:
3	chr6:117818749..117822306-chr6:117824272..117826504,3	K562	blood:

Variant related genes	Relation type
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10782186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[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];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2105907	0.86[ASN][1000 genomes]
rs2180811	0.86[CHB][hapmap]
rs2354346	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2883418	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34431655	0.81[ASN][1000 genomes]
rs34882116	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4945586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946258	0.87[CHB][hapmap]
rs4946259	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs4946260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911915	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs6940922	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs929058	0.96[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs9320604	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]
rs9374662	0.84[CHB][hapmap]
rs9374663	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs9387479	0.89[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];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489213	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9688361	0.95[AFR][1000 genomes];0.98[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs929057	DCBLD1	cis	Adipose Subcutaneous	GTEx
rs929057	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	chr6:117805600-117819400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:117805800-117825600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:117805800-117826200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:117806200-117819600	Weak transcription	Psoas Muscle	Psoas
10	chr6:117806200-117826400	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:117806200-117826600	Weak transcription	Pancreas	Pancrea
12	chr6:117808600-117819400	Weak transcription	Spleen	Spleen
13	chr6:117808600-117819600	Weak transcription	Fetal Stomach	stomach
14	chr6:117808800-117824400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:117808800-117826800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:117812800-117820000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:117813600-117820600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:117814400-117820400	Enhancers	Fetal Lung	lung
19	chr6:117815000-117819400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:117815000-117825600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:117815600-117821200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:117816200-117819400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:117816400-117819200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:117816400-117819200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:117816400-117819400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr6:117816400-117819400	Enhancers	GM12878-XiMat	blood
27	chr6:117816400-117819400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr6:117816400-117820200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:117816400-117820400	Enhancers	Osteobl	bone
30	chr6:117816400-117821200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:117816400-117827800	Weak transcription	Right Atrium	heart
32	chr6:117816400-117828000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:117816400-117828600	Weak transcription	K562	blood
34	chr6:117816400-117841400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:117816600-117819200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr6:117816800-117825600	Weak transcription	Left Ventricle	heart
37	chr6:117816800-117827800	Weak transcription	Gastric	stomach
38	chr6:117817600-117819400	Enhancers	HMEC	breast
39	chr6:117817600-117819600	Enhancers	HepG2	liver
40	chr6:117817600-117821400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:117817800-117819800	Flanking Active TSS	HUVEC	blood vessel
42	chr6:117817800-117820000	Enhancers	HSMM	muscle
43	chr6:117817800-117827600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:117818000-117819200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:117818000-117819200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:117818000-117819200	Active TSS	A549	lung
47	chr6:117818000-117819200	Weak transcription	Hela-S3	cervix
48	chr6:117818000-117819200	Weak transcription	HSMMtube	muscle
49	chr6:117818000-117819200	Enhancers	NH-A	brain
50	chr6:117818000-117819400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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