Variant report

Variant	rs17635492
Chromosome Location	chr6:117771277-117771278
allele	A/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	CTCF	chr6:117771180-117771330	GM12878	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
3	RAD21	chr6:117770765-117771509	HCT-116	colon:	n/a	chr6:117771192-117771211
4	SMC3	chr6:117771015-117771395	K562	blood:	n/a	chr6:117771193-117771207
5	CTCF	chr6:117771050-117771315	GM13977	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
6	CTCF	chr6:117771011-117771487	HepG2	liver:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
7	CTCF	chr6:117770980-117771509	K562	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
8	CTCF	chr6:117771160-117771310	AG09309	skin:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
9	CTCF	chr6:117771140-117771290	HPF	lung:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
10	CTCF	chr6:117771160-117771310	AG04450	lung:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
11	CTCF	chr6:117771060-117771317	Lung_OC	lung:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
12	RAD21	chr6:117770948-117771389	A549	lung:	n/a	chr6:117771192-117771211
13	CTCF	chr6:117771068-117771344	HUVEC	blood vessel:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
14	CTCF	chr6:117771160-117771310	HRPEpiC	eye:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
15	CTCF	chr6:117771160-117771310	HPF	lung:	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	chr6:117771140-117771290	Caco-2	colon:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
18	CTCF	chr6:117770980-117771455	GM12878	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
19	CTCF	chr6:117771048-117771278	A549	lung:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
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	CTCF	chr6:117771140-117771290	GM12866	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
24	RAD21	chr6:117770999-117771491	HepG2	liver:	n/a	chr6:117771192-117771211
25	RAD21	chr6:117769760-117771602	SK-N-SH	brain:	n/a	chr6:117771192-117771211
26	RAD21	chr6:117770972-117771391	SK-N-SH_RA	brain:	n/a	chr6:117771192-117771211
27	SMC3	chr6:117770929-117771407	Hela-S3	cervix:	n/a	chr6:117771193-117771207
28	RAD21	chr6:117771051-117771417	GM12878	blood:	n/a	chr6:117771192-117771211
29	CTCF	chr6:117771220-117771370	HFF	foreskin:	n/a	n/a
30	E2F4	chr6:117771173-117771417	MCF10A-Er-Src	breast:	n/a	n/a
31	RAD21	chr6:117770876-117771397	H1-hESC	embryonic stem cell:	n/a	chr6:117771192-117771211
32	RAD21	chr6:117770847-117771570	HCT-116	colon:	n/a	chr6:117771192-117771211
33	CTCF	chr6:117771088-117771310	LNCaP	prostate:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
34	CTCF	chr6:117770773-117772235	A549	lung:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
35	CTCF	chr6:117771140-117771290	NHEK	skin:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
36	CTCF	chr6:117771140-117771290	HEK293	kidney:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
37	RAD21	chr6:117771076-117771295	K562	blood:	n/a	chr6:117771192-117771211
38	CTCF	chr6:117771081-117771316	HepG2	liver:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
39	CTCF	chr6:117771140-117771290	HFF-Myc	foreskin:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
40	CTCF	chr6:117771015-117771347	ECC-1	luminal epithelium:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
41	ZNF143	chr6:117771041-117771375	GM12878	blood:	n/a	n/a
42	SP1	chr6:117770890-117771379	A549	lung:	n/a	n/a
43	CTCF	chr6:117771140-117771290	HVMF	connective:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
44	CTCF	chr6:117771140-117771290	HA-sp	spinal cord:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
45	CTCF	chr6:117771089-117771351	SK-N-SH_RA	brain:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
46	CTCF	chr6:117771140-117771290	GM12869	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
47	CTCF	chr6:117770958-117771469	MCF-7	breast:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
48	CTCF	chr6:117771140-117771290	K562	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
49	CTCF	chr6:117771073-117771328	K562	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
50	CTCF	chr6:117771140-117771290	GM12872	blood:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209

No.	Distal block	Cell Line	Cell type
1	chr6:117770733..117771567-chr6:117876823..117877674,5	MCF-7	breast:
2	chr6:117771062..117771699-chr6:117876469..117877334,4	MCF-7	breast:
3	chr6:117770749..117771581-chr6:117926153..117926842,2	MCF-7	breast:
4	chr6:117770749..117772894-chr6:117776131..117779013,2	K562	blood:

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

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1123836	0.96[EUR][1000 genomes]
rs11755719	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11755781	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11756993	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11759243	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12665822	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1321808	0.96[EUR][1000 genomes]
rs1321809	0.96[EUR][1000 genomes]
rs1321810	0.96[EUR][1000 genomes]
rs1321811	1.00[CHB][hapmap]
rs17079201	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17079205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17573446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574179	1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs17574269	1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs17575094	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17575449	0.89[AMR][1000 genomes]
rs17636252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17636431	1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs7453460	0.96[EUR][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

Variant related diseases (count:1)

Disease	PMID	Source
Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer	23478653	GWAS catalog

Chromatin state (count:33 , 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	chr6:117768000-117773400	Enhancers	NHEK	skin
4	chr6:117768200-117773200	Enhancers	Osteobl	bone
5	chr6:117768200-117773600	Enhancers	HMEC	breast
6	chr6:117768800-117772000	Enhancers	NHLF	lung
7	chr6:117769000-117773200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:117769200-117773200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:117769600-117771600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:117769600-117773400	Enhancers	HSMM	muscle
11	chr6:117769600-117779400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:117769800-117773600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:117769800-117773600	Enhancers	HSMMtube	muscle
14	chr6:117770000-117771400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:117770000-117773000	Enhancers	NH-A	brain
16	chr6:117770000-117773600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:117770000-117778000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:117770200-117771400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:117770600-117773400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:117770800-117773400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:117771000-117771400	Enhancers	Brain Anterior Caudate	brain
22	chr6:117771000-117771400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr6:117771000-117772200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:117771000-117772200	Weak transcription	Stomach Mucosa	stomach
25	chr6:117771000-117772800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr6:117771000-117773200	Enhancers	Duodenum Mucosa	Duodenum
27	chr6:117771000-117773600	Enhancers	Fetal Intestine Large	intestine
28	chr6:117771200-117772600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:117771200-117773000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:117771200-117773000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:117771200-117773000	Weak transcription	Fetal Stomach	stomach
32	chr6:117771200-117773600	Enhancers	A549	lung
33	chr6:117771200-117773600	Enhancers	Hela-S3	cervix

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