Variant report

Variant	rs6914910
Chromosome Location	chr6:117806461-117806462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:117805729..117808252-chr6:117923714..117925422,2	K562	blood:
2	chr6:117798788..117807313-chr6:117921918..117925735,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047932	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs13192067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13192130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13192511	0.80[ASN][1000 genomes]
rs13193572	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13195478	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13195673	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13196791	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13198016	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13198224	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13202267	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13202333	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13202514	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13205723	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13205753	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13205986	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13206063	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13206490	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13207962	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13210963	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13211956	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13216575	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13217856	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13218378	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17079281	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1885064	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2018055	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2104064	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34059490	0.84[ASN][1000 genomes]
rs34331459	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35002781	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35599105	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36045731	0.84[ASN][1000 genomes]
rs4357172	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4632931	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62433102	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62433108	0.97[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6568976	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6568977	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6568978	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6568979	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6910338	0.80[ASN][1000 genomes]
rs6936540	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6940327	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6941824	0.80[ASN][1000 genomes]
rs722359	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7739294	0.80[ASN][1000 genomes]
rs7745840	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7746536	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7749229	0.80[ASN][1000 genomes]
rs7756187	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7763979	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7764024	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9481719	0.80[ASN][1000 genomes]
rs9489199	0.80[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6914910	DCBLD1	cis	Whole Blood	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117805000-117810200	Weak transcription	Gastric	stomach
2	chr6:117805200-117807000	Weak transcription	Ovary	ovary
3	chr6:117805200-117807000	Flanking Active TSS	NH-A	brain
4	chr6:117805200-117807200	Flanking Active TSS	HUVEC	blood vessel
5	chr6:117805200-117807600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:117805200-117808400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:117805200-117814800	Weak transcription	Left Ventricle	heart
8	chr6:117805200-117816000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:117805200-117819400	Weak transcription	Small Intestine	intestine
10	chr6:117805200-117825600	Weak transcription	Lung	lung
11	chr6:117805200-117826600	Weak transcription	Esophagus	oesophagus
12	chr6:117805200-117851200	Weak transcription	Right Ventricle	heart
13	chr6:117805400-117806600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:117805400-117806600	Enhancers	Fetal Intestine Large	intestine
15	chr6:117805400-117806600	Flanking Active TSS	HepG2	liver
16	chr6:117805400-117806800	Transcr. at gene 5' and 3'	Osteobl	bone
17	chr6:117805400-117807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:117805400-117807600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:117805400-117819400	Weak transcription	Aorta	Aorta
20	chr6:117805600-117806800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:117805600-117806800	Enhancers	Fetal Lung	lung
22	chr6:117805600-117806800	Enhancers	Stomach Mucosa	stomach
23	chr6:117805600-117807000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:117805600-117807400	Enhancers	NHDF-Ad	bronchial
25	chr6:117805600-117807600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:117805600-117807600	Enhancers	Liver	Liver
27	chr6:117805600-117807800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:117805600-117808000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:117805600-117814800	Weak transcription	K562	blood
30	chr6:117805600-117818800	Weak transcription	Fetal Kidney	kidney
31	chr6:117805600-117819400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr6:117805800-117806800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:117805800-117807000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:117805800-117807000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:117805800-117807800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:117805800-117825600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr6:117805800-117826200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:117806000-117806600	Flanking Active TSS	NHLF	lung
39	chr6:117806000-117806800	Enhancers	Brain Substantia Nigra	brain
40	chr6:117806200-117806600	Enhancers	Hela-S3	cervix
41	chr6:117806200-117806800	Active TSS	Adipose Nuclei	Adipose
42	chr6:117806200-117806800	Genic enhancers	HSMM	muscle
43	chr6:117806200-117807000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:117806200-117807000	Enhancers	NHEK	skin
45	chr6:117806200-117807800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:117806200-117807800	Weak transcription	Fetal Intestine Small	intestine
47	chr6:117806200-117807800	Weak transcription	Fetal Stomach	stomach
48	chr6:117806200-117815000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr6:117806200-117815400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr6:117806200-117816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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