Variant report

Variant	rs13210963
Chromosome Location	chr6:117823289-117823290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr6:117822818-117823294	HepG2	liver:	n/a	chr6:117823162-117823174
2	HNF4G	chr6:117822804-117823349	HepG2	liver:	n/a	chr6:117823046-117823054
3	SP1	chr6:117822883-117823321	HepG2	liver:	n/a	n/a
4	MYBL2	chr6:117822832-117823362	HepG2	liver:	n/a	n/a
5	FOXA2	chr6:117822772-117823300	HepG2	liver:	n/a	chr6:117823162-117823174
6	MYBL2	chr6:117822821-117823332	HepG2	liver:	n/a	n/a
7	ELF1	chr6:117822990-117823295	HepG2	liver:	n/a	n/a
8	HNF4A	chr6:117822865-117823373	HepG2	liver:	n/a	chr6:117823046-117823054
9	FOXA1	chr6:117822803-117823398	HepG2	liver:	n/a	chr6:117823162-117823174
10	EP300	chr6:117822790-117823397	HepG2	liver:	n/a	chr6:117823194-117823208
11	HDAC2	chr6:117822726-117823373	HepG2	liver:	n/a	chr6:117823116-117823130
12	HDAC2	chr6:117822835-117823353	HepG2	liver:	n/a	chr6:117823116-117823130
13	TEAD4	chr6:117822674-117823455	HepG2	liver:	n/a	n/a
14	FOXA1	chr6:117822685-117823289	HepG2	liver:	n/a	chr6:117823162-117823174
15	FOXA1	chr6:117822790-117823318	HepG2	liver:	n/a	chr6:117823162-117823174

Variant related genes	Relation type
DCBLD1	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs13192067	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13192130	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13192511	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs13193572	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13195478	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13195673	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs13196791	0.85[ASN][1000 genomes]
rs13198016	0.85[ASN][1000 genomes]
rs13202267	0.85[ASN][1000 genomes]
rs13202333	0.86[ASN][1000 genomes]
rs13202514	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13205723	0.85[ASN][1000 genomes]
rs13205753	0.83[ASN][1000 genomes]
rs13205986	0.81[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs13206063	0.84[ASN][1000 genomes]
rs13206490	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13207962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13211956	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs13216575	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13217856	0.85[ASN][1000 genomes]
rs13218378	0.89[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17079281	0.95[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1885064	0.89[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2018055	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104064	0.89[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273601	0.82[JPT][hapmap]
rs34059490	0.81[ASN][1000 genomes]
rs34331459	0.85[ASN][1000 genomes]
rs35002781	0.85[ASN][1000 genomes]
rs35599105	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36045731	0.81[ASN][1000 genomes]
rs3777980	0.82[JPT][hapmap]
rs3777982	0.82[JPT][hapmap]
rs4357172	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4632931	0.85[ASN][1000 genomes]
rs62433102	0.85[ASN][1000 genomes]
rs62433108	0.86[ASN][1000 genomes]
rs6568976	0.84[ASN][1000 genomes]
rs6568977	0.85[ASN][1000 genomes]
rs6568978	0.85[ASN][1000 genomes]
rs6568979	0.85[ASN][1000 genomes]
rs6914910	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6930292	0.82[JPT][hapmap]
rs6936540	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs722359	0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs7745840	0.85[ASN][1000 genomes]
rs7746536	0.81[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs7756187	0.89[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7763979	0.81[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs7764024	0.85[ASN][1000 genomes]
rs9481719	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs9489193	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs9489199	0.85[JPT][hapmap]

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
rs13210963	DCBLD1	cis	multi-tissue	Pritchard
rs13210963	DCBLD1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117805200-117825600	Weak transcription	Lung	lung
2	chr6:117805200-117826600	Weak transcription	Esophagus	oesophagus
3	chr6:117805200-117851200	Weak transcription	Right Ventricle	heart
4	chr6:117805800-117825600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:117805800-117826200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:117806200-117826400	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:117806200-117826600	Weak transcription	Pancreas	Pancrea
8	chr6:117808800-117824400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:117808800-117826800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:117815000-117825600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:117816400-117827800	Weak transcription	Right Atrium	heart
12	chr6:117816400-117828000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:117816400-117828600	Weak transcription	K562	blood
14	chr6:117816400-117841400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:117816800-117825600	Weak transcription	Left Ventricle	heart
16	chr6:117816800-117827800	Weak transcription	Gastric	stomach
17	chr6:117817800-117827600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:117818000-117823800	Weak transcription	Stomach Mucosa	stomach
19	chr6:117818400-117825600	Weak transcription	Fetal Intestine Small	intestine
20	chr6:117818400-117833600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:117818800-117824000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:117818800-117825200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:117819600-117825400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:117819600-117827600	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:117819800-117823800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:117819800-117824600	Enhancers	HUVEC	blood vessel
27	chr6:117819800-117825200	Weak transcription	Adipose Nuclei	Adipose
28	chr6:117819800-117825200	Weak transcription	Fetal Intestine Large	intestine
29	chr6:117819800-117825200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr6:117819800-117826400	Weak transcription	Aorta	Aorta
31	chr6:117819800-117827800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:117819800-117831600	Weak transcription	Hela-S3	cervix
33	chr6:117819800-117834200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:117819800-117868800	Weak transcription	Spleen	Spleen
35	chr6:117820000-117825000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:117820000-117825200	Weak transcription	GM12878-XiMat	blood
37	chr6:117820000-117825600	Weak transcription	Liver	Liver
38	chr6:117820200-117827800	Weak transcription	NHDF-Ad	bronchial
39	chr6:117820400-117823600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:117820400-117825400	Weak transcription	Fetal Lung	lung
41	chr6:117820400-117825600	Weak transcription	Fetal Stomach	stomach
42	chr6:117820400-117825600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:117820400-117827400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:117820600-117827400	Weak transcription	Psoas Muscle	Psoas
45	chr6:117821000-117825000	Weak transcription	NH-A	brain
46	chr6:117821200-117827600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:117821600-117823800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:117821600-117868800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr6:117821800-117823600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:117821800-117843600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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