Variant report

Variant	rs17079281
Chromosome Location	chr6:117803138-117803139
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	KAP1	chr6:117802970-117803647	HEK293	kidney:	n/a	n/a
2	ZEB1	chr6:117802335-117803996	HepG2	liver:	n/a	n/a
3	TEAD4	chr6:117802968-117803750	HepG2	liver:	n/a	n/a
4	MYBL2	chr6:117802336-117804909	HepG2	liver:	n/a	n/a
5	E2F6	chr6:117802498-117804805	K562	blood:	n/a	chr6:117803156-117803168 chr6:117804649-117804659 chr6:117804518-117804529 chr6:117803839-117803849
6	MAX	chr6:117803135-117805120	HCT-116	colon:	n/a	n/a
7	STAT1	chr6:117803084-117803850	GM12878	blood:	n/a	chr6:117803718-117803725
8	EGR1	chr6:117803086-117804093	HCT-116	colon:	n/a	chr6:117803769-117803782 chr6:117803770-117803779 chr6:117803766-117803780 chr6:117803768-117803782 chr6:117803160-117803173 chr6:117803770-117803781 chr6:117803769-117803782 chr6:117803769-117803782 chr6:117803658-117803668 chr6:117803770-117803780 chr6:117803770-117803780
9	E2F6	chr6:117803071-117803228	K562	blood:	n/a	chr6:117803156-117803168
10	SIN3A	chr6:117802998-117805157	H1-hESC	embryonic stem cell:	n/a	chr6:117803215-117803223 chr6:117803630-117803641 chr6:117803875-117803888
11	MAX	chr6:117802996-117805213	HCT-116	colon:	n/a	n/a
12	MAX	chr6:117802511-117803724	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr6:117802983-117805154	NB4	blood:	n/a	n/a
14	MAZ	chr6:117802540-117804952	K562	blood:	n/a	n/a
15	MXI1	chr6:117802473-117805177	HepG2	liver:	n/a	n/a
16	MYC	chr6:117802686-117805224	K562	blood:	n/a	n/a
17	BHLHE40	chr6:117802467-117803168	HepG2	liver:	n/a	n/a
18	CTBP2	chr6:117802734-117804761	H1-hESC	embryonic stem cell:	n/a	n/a
19	E2F6	chr6:117802405-117804887	H1-hESC	embryonic stem cell:	n/a	chr6:117803156-117803168 chr6:117804649-117804659 chr6:117804518-117804529 chr6:117803839-117803849
20	HEY1	chr6:117802535-117804976	HepG2	liver:	n/a	chr6:117803658-117803673
21	POLR2A	chr6:117802530-117804840	HepG2	liver:	n/a	n/a
22	MAX	chr6:117802338-117805250	HepG2	liver:	n/a	n/a
23	CREB1	chr6:117802394-117804854	HepG2	liver:	n/a	n/a
24	MYC	chr6:117802544-117805091	K562	blood:	n/a	n/a
25	E2F6	chr6:117802926-117804853	H1-hESC	embryonic stem cell:	n/a	chr6:117803156-117803168 chr6:117804649-117804659 chr6:117804518-117804529 chr6:117803839-117803849
26	ZNF263	chr6:117802610-117805129	HEK293-T-REx	kidney:	n/a	chr6:117803607-117803616
27	MAFK	chr6:117803090-117803301	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:117802892-117805136	IMR90	lung:	n/a	n/a
29	MAX	chr6:117802988-117804949	A549	lung:	n/a	n/a
30	MAX	chr6:117802478-117804814	H1-hESC	embryonic stem cell:	n/a	n/a
31	MXI1	chr6:117802924-117805321	IMR90	lung:	n/a	n/a
32	RCOR1	chr6:117802471-117804805	K562	blood:	n/a	n/a
33	MYBL2	chr6:117802302-117803912	HepG2	liver:	n/a	n/a
34	MAX	chr6:117803034-117803807	A549	lung:	n/a	n/a
35	NFIC	chr6:117802906-117803429	HepG2	liver:	n/a	n/a
36	RCOR1	chr6:117802679-117803884	K562	blood:	n/a	n/a
37	HA-E2F1	chr6:117802945-117805068	MCF-7	breast:	n/a	chr6:117803156-117803168 chr6:117804649-117804659 chr6:117803839-117803849
38	JUND	chr6:117803062-117804963	K562	blood:	n/a	chr6:117804338-117804347 chr6:117803467-117803481
39	MAX	chr6:117803082-117803993	A549	lung:	n/a	n/a
40	MAX	chr6:117803080-117805188	K562	blood:	n/a	n/a
41	MAX	chr6:117803038-117803829	ECC-1	luminal epithelium:	n/a	n/a
42	MAFK	chr6:117802486-117803357	HepG2	liver:	n/a	n/a
43	MAX	chr6:117803109-117805208	MCF-7	breast:	n/a	n/a
44	BHLHE40	chr6:117803107-117803960	K562	blood:	n/a	chr6:117803497-117803513 chr6:117803874-117803890 chr6:117803628-117803644
45	MAX	chr6:117802394-117805190	HepG2	liver:	n/a	n/a
46	POLR2A	chr6:117802428-117805502	HepG2	liver:	n/a	n/a
47	WRNIP1	chr6:117803100-117803384	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:117802655..117804398-chr6:117864844..117866459,3	MCF-7	breast:
2	chr6:117802549..117804711-chr6:117824121..117828201,5	K562	blood:
3	chr6:101327181..101330084-chr6:117801293..117803939,2	K562	blood:
4	chr6:117798788..117807313-chr6:117921918..117925735,11	MCF-7	breast:
5	chr6:117802223..117804604-chr6:117922456..117924196,2	MCF-7	breast:

Variant related genes	Relation type
DCBLD1	TF binding region
ENSG00000260000	Chromatin interaction
ENSG00000047932	Chromatin interaction
ENSG00000164465	Chromatin interaction
ENSG00000112249	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs13192067	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13192130	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13192511	0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs13193572	0.88[CHB][hapmap];0.89[JPT][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13195478	1.00[ASW][hapmap];0.90[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13195673	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13196791	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13198016	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13198224	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13202267	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13202333	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13202514	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13205723	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13205753	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13205986	0.84[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13206063	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13206490	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13207962	0.95[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13208369	0.82[ASN][1000 genomes]
rs13210963	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]
rs13211956	0.88[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13216575	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13217856	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13218378	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1407182	0.81[ASN][1000 genomes]
rs1885064	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2018055	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2104064	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273601	0.89[JPT][hapmap]
rs34059490	0.89[ASN][1000 genomes]
rs34331459	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35002781	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35599105	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36045731	0.89[ASN][1000 genomes]
rs3777980	0.89[JPT][hapmap]
rs3777982	0.89[JPT][hapmap]
rs4357172	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4632931	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4946258	0.80[EUR][1000 genomes]
rs62433102	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62433108	0.99[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6568976	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6568977	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6568978	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6568979	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6910338	0.85[ASN][1000 genomes]
rs6914910	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6930292	0.89[JPT][hapmap]
rs6936540	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6940327	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6941824	0.85[ASN][1000 genomes]
rs722359	0.84[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7739294	0.85[ASN][1000 genomes]
rs7745840	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7746536	0.84[ASW][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7749229	0.85[ASN][1000 genomes]
rs7756187	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7763979	0.84[ASW][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7764024	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9481719	0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs9489152	0.80[JPT][hapmap]
rs9489193	0.94[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs9489199	0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3434198	chr6:117802809-117805457	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17079281	DCBLD1	cis	Whole Blood	GTEx
rs17079281	DCBLD1	cis	multi-tissue	Pritchard
rs17079281	FRK	cis	cerebellum	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117800000-117803200	Weak transcription	HSMM	muscle
2	chr6:117800200-117803200	Weak transcription	HSMMtube	muscle
3	chr6:117800200-117803400	Weak transcription	Small Intestine	intestine
4	chr6:117802200-117803200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:117802200-117803200	Enhancers	NHEK	skin
6	chr6:117802400-117803600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:117802400-117803800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:117802400-117806400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:117802600-117803200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:117802600-117803200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:117802600-117803200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:117802600-117803200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:117802600-117803200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:117802600-117803200	Enhancers	Placenta	Placenta
15	chr6:117802600-117803200	Enhancers	Left Ventricle	heart
16	chr6:117802600-117803200	Enhancers	HUVEC	blood vessel
17	chr6:117802600-117803400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:117802600-117803400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:117802600-117803400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:117802600-117803400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr6:117802600-117803400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr6:117802600-117803400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:117802600-117803400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:117802600-117803400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:117802600-117803400	Enhancers	Pancreas	Pancrea
26	chr6:117802600-117803400	Enhancers	Right Atrium	heart
27	chr6:117802600-117803400	Enhancers	Right Ventricle	heart
28	chr6:117802600-117803400	Enhancers	HMEC	breast
29	chr6:117802600-117803600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:117802600-117803600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:117802600-117803600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:117802600-117803600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr6:117802600-117803600	Flanking Active TSS	GM12878-XiMat	blood
34	chr6:117802600-117803600	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr6:117802600-117803600	Flanking Active TSS	K562	blood
36	chr6:117802600-117803800	Bivalent Enhancer	Fetal Thymus	thymus
37	chr6:117802600-117804000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:117802600-117804800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr6:117802600-117805000	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr6:117802800-117803200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr6:117802800-117803200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:117802800-117803200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
43	chr6:117802800-117803200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
44	chr6:117802800-117803200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:117802800-117803200	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
46	chr6:117802800-117803200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:117802800-117803200	Enhancers	Brain Angular Gyrus	brain
48	chr6:117802800-117803200	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr6:117802800-117803200	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr6:117802800-117803200	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links