Variant report

Variant	rs13208369
Chromosome Location	chr6:117771112-117771113
allele	G/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	CTCF	chr6:117771079-117771337	HepG2	liver:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
2	RAD21	chr6:117770765-117771509	HCT-116	colon:	n/a	chr6:117771192-117771211
3	SMC3	chr6:117771015-117771395	K562	blood:	n/a	chr6:117771193-117771207
4	CTCF	chr6:117771050-117771315	GM13977	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
5	CTCF	chr6:117771011-117771487	HepG2	liver:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
6	CTCF	chr6:117770980-117771509	K562	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
7	CTCF	chr6:117771080-117771230	HAc	cerebellar:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
8	CTCF	chr6:117771060-117771317	Lung_OC	lung:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
9	RAD21	chr6:117770948-117771389	A549	lung:	n/a	chr6:117771192-117771211
10	CTCF	chr6:117771068-117771344	HUVEC	blood vessel:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
11	CTCF	chr6:117771080-117771230	NB4	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
12	CTCF	chr6:117771080-117771230	AG04450	lung:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
13	CTCF	chr6:117771112-117771233	ProgFib	skin:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
14	CTCF	chr6:117771100-117771250	BJ	skin:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
15	CTCF	chr6:117771080-117771230	Hela-S3	cervix:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
16	CTCF	chr6:117771038-117771316	MCF-7	breast:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
17	CTCF	chr6:117770980-117771455	GM12878	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
18	CTCF	chr6:117771048-117771278	A549	lung:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
19	CTCF	chr6:117771020-117771170	HAc	cerebellar:	n/a	n/a
20	YY1	chr6:117771105-117771322	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr6:117770877-117771492	HCT-116	colon:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
22	SMC3	chr6:117771007-117771449	GM12878	blood:	n/a	chr6:117771193-117771207
23	RAD21	chr6:117770999-117771491	HepG2	liver:	n/a	chr6:117771192-117771211
24	RAD21	chr6:117769760-117771602	SK-N-SH	brain:	n/a	chr6:117771192-117771211
25	RAD21	chr6:117770972-117771391	SK-N-SH_RA	brain:	n/a	chr6:117771192-117771211
26	SMC3	chr6:117770929-117771407	Hela-S3	cervix:	n/a	chr6:117771193-117771207
27	CTCF	chr6:117771100-117771250	AG09309	skin:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
28	RAD21	chr6:117771051-117771417	GM12878	blood:	n/a	chr6:117771192-117771211
29	RAD21	chr6:117770876-117771397	H1-hESC	embryonic stem cell:	n/a	chr6:117771192-117771211
30	CTCF	chr6:117771100-117771250	AoAF	blood vessel:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
31	RAD21	chr6:117770847-117771570	HCT-116	colon:	n/a	chr6:117771192-117771211
32	CTCF	chr6:117771088-117771310	LNCaP	prostate:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
33	CTCF	chr6:117770773-117772235	A549	lung:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
34	CTCF	chr6:117771014-117771216	GM19238	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
35	RAD21	chr6:117771076-117771295	K562	blood:	n/a	chr6:117771192-117771211
36	CTCF	chr6:117771081-117771316	HepG2	liver:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
37	CTCF	chr6:117771015-117771347	ECC-1	luminal epithelium:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
38	ZNF143	chr6:117771041-117771375	GM12878	blood:	n/a	n/a
39	CTCF	chr6:117771081-117771263	T-47D	breast:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
40	SP1	chr6:117770890-117771379	A549	lung:	n/a	n/a
41	CTCF	chr6:117771100-117771250	AG10803	skin:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
42	CTCF	chr6:117771089-117771351	SK-N-SH_RA	brain:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
43	CTCF	chr6:117770958-117771469	MCF-7	breast:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
44	CTCF	chr6:117771073-117771328	K562	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
45	CTCF	chr6:117771100-117771250	HPAF	blood vessel:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
46	RAD21	chr6:117770926-117771442	SK-N-SH_RA	brain:	n/a	chr6:117771192-117771211
47	CTCF	chr6:117770996-117771332	H1-hESC	embryonic stem cell:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
48	CTCF	chr6:117771100-117771250	HepG2	liver:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
49	CTCF	chr6:117771100-117771250	HMEC	breast:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
50	RAD21	chr6:117770942-117771570	HepG2	liver:	n/a	chr6:117771192-117771211

No.	Distal block	Cell Line	Cell type
1	chr6:117770311..117771186-chr6:117926141..117926806,2	K562	blood:
2	chr6:117770733..117771567-chr6:117876823..117877674,5	MCF-7	breast:
3	chr6:117770674..117771260-chr6:118150789..118151724,2	K562	blood:
4	chr6:117771062..117771699-chr6:117876469..117877334,4	MCF-7	breast:
5	chr6:117763172..117766100-chr6:117768265..117771221,3	MCF-7	breast:
6	chr6:117770749..117771581-chr6:117926153..117926842,2	MCF-7	breast:
7	chr6:117769491..117771172-chr6:117894297..117895800,2	K562	blood:
8	chr6:117770730..117771262-chr6:117876791..117877654,2	K562	blood:
9	chr6:117770749..117772894-chr6:117776131..117779013,2	K562	blood:

Variant related genes	Relation type
DCBLD1	TF binding region
ENSG00000047932	Chromatin interaction
ENSG00000207461	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13192511	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13202514	0.84[ASN][1000 genomes]
rs13212002	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13218378	0.85[ASN][1000 genomes]
rs1407181	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1407182	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17079188	0.95[ASN][1000 genomes]
rs17079281	0.82[ASN][1000 genomes]
rs1853146	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1853147	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1885064	0.89[ASN][1000 genomes]
rs2104064	0.82[ASN][1000 genomes]
rs4946254	0.85[EUR][1000 genomes]
rs6910338	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6930292	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6936540	0.88[ASN][1000 genomes]
rs6940327	0.82[ASN][1000 genomes]
rs6941337	0.86[EUR][1000 genomes]
rs6941824	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6942067	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs717969	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs717970	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7739294	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7749229	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7756187	0.93[ASN][1000 genomes]
rs9481719	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9489173	0.88[ASN][1000 genomes]
rs9489193	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489199	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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
rs13208369	DCBLD1	cis	Whole Blood	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117763000-117772200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:117767400-117771600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:117767800-117771200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:117768000-117773400	Enhancers	NHEK	skin
5	chr6:117768200-117773200	Enhancers	Osteobl	bone
6	chr6:117768200-117773600	Enhancers	HMEC	breast
7	chr6:117768800-117772000	Enhancers	NHLF	lung
8	chr6:117769000-117773200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:117769200-117771200	Enhancers	Fetal Stomach	stomach
10	chr6:117769200-117773200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:117769600-117771600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:117769600-117773400	Enhancers	HSMM	muscle
13	chr6:117769600-117779400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:117769800-117771200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr6:117769800-117771200	Enhancers	NHDF-Ad	bronchial
16	chr6:117769800-117773600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:117769800-117773600	Enhancers	HSMMtube	muscle
18	chr6:117770000-117771400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:117770000-117773000	Enhancers	NH-A	brain
20	chr6:117770000-117773600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:117770000-117778000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:117770200-117771400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr6:117770400-117771200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:117770400-117771200	Flanking Active TSS	A549	lung
25	chr6:117770400-117771200	Flanking Active TSS	Hela-S3	cervix
26	chr6:117770600-117773400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:117770800-117771200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:117770800-117771200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:117770800-117771200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:117770800-117771200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:117770800-117771200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr6:117770800-117771200	Enhancers	Pancreas	Pancrea
33	chr6:117770800-117773400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:117771000-117771200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr6:117771000-117771200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:117771000-117771200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr6:117771000-117771200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:117771000-117771200	Enhancers	Brain Substantia Nigra	brain
39	chr6:117771000-117771200	Enhancers	Colon Smooth Muscle	Colon
40	chr6:117771000-117771200	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr6:117771000-117771200	Enhancers	HUVEC	blood vessel
42	chr6:117771000-117771400	Enhancers	Brain Anterior Caudate	brain
43	chr6:117771000-117771400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr6:117771000-117772200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr6:117771000-117772200	Weak transcription	Stomach Mucosa	stomach
46	chr6:117771000-117772800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr6:117771000-117773200	Enhancers	Duodenum Mucosa	Duodenum
48	chr6:117771000-117773600	Enhancers	Fetal Intestine Large	intestine

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