Variant report

Variant	rs2073013
Chromosome Location	chr6:24666739-24666740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:282)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZKSCAN1	chr6:24666589-24667780	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr6:24666421-24667562	MCF-7	breast:	n/a	n/a
3	POLR2A	chr6:24666556-24667668	HCT-116	colon:	n/a	n/a
4	HEY1	chr6:24666556-24668167	K562	blood:	n/a	chr6:24667242-24667257 chr6:24667220-24667235
5	POLR2A	chr6:24666530-24667608	GM12878	blood:	n/a	n/a
6	ZNF384	chr6:24666613-24667636	K562	blood:	n/a	n/a
7	HEY1	chr6:24666602-24667815	K562	blood:	n/a	chr6:24667242-24667257 chr6:24667220-24667235
8	MYC	chr6:24666530-24667353	MCF-7	breast:	n/a	n/a
9	RELA	chr6:24666637-24667859	GM19193	blood:	n/a	n/a
10	POLR2A	chr6:24666413-24667665	K562	blood:	n/a	n/a
11	ZNF143	chr6:24666587-24667500	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:24666459-24667611	GM18526	blood:	n/a	n/a
13	YY1	chr6:24666628-24667502	H1-hESC	embryonic stem cell:	n/a	n/a
14	MXI1	chr6:24666632-24667865	GM12878	blood:	n/a	n/a
15	HEY1	chr6:24666386-24668037	HepG2	liver:	n/a	chr6:24667242-24667257 chr6:24667220-24667235
16	SMARCB1	chr6:24666464-24667592	Hela-S3	cervix:	n/a	n/a
17	YY1	chr6:24666529-24667482	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr6:24666409-24667917	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT1	chr6:24666149-24667614	GM12878	blood:	n/a	n/a
20	RELA	chr6:24666400-24667611	GM15510	blood:	n/a	n/a
21	FOXM1	chr6:24666403-24667640	GM12878	blood:	n/a	n/a
22	YY1	chr6:24666579-24667650	HepG2	liver:	n/a	n/a
23	POLR2A	chr6:24666616-24667999	HepG2	liver:	n/a	n/a
24	CEBPB	chr6:24666530-24668034	Hela-S3	cervix:	n/a	n/a
25	MAX	chr6:24666433-24667689	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr6:24666437-24667682	GM12892	blood:	n/a	n/a
27	MYC	chr6:24666493-24667329	MCF-7	breast:	n/a	n/a
28	MAZ	chr6:24666496-24667919	K562	blood:	n/a	n/a
29	RELA	chr6:24666508-24667955	GM10847	blood:	n/a	n/a
30	POLR2A	chr6:24666432-24668102	Hela-S3	cervix:	n/a	n/a
31	NFIC	chr6:24666671-24668091	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:24666509-24667552	GM12878	blood:	n/a	n/a
33	BHLHE40	chr6:24666439-24667635	K562	blood:	n/a	n/a
34	MAX	chr6:24666544-24667585	H1-hESC	embryonic stem cell:	n/a	n/a
35	UBTF	chr6:24666205-24668049	K562	blood:	n/a	n/a
36	POLR2A	chr6:24666456-24667591	GM12892	blood:	n/a	n/a
37	POLR2A	chr6:24666311-24667878	PBDE	blood:	n/a	n/a
38	CHD2	chr6:24666379-24667491	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr6:24666423-24667608	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr6:24666690-24667662	GM12892	blood:	n/a	n/a
41	TAF1	chr6:24666469-24666743	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr6:24666447-24667624	GM18951	blood:	n/a	n/a
43	SIN3A	chr6:24666296-24667709	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr6:24666539-24667712	ECC-1	luminal epithelium:	n/a	n/a
45	TAF1	chr6:24666524-24667564	HepG2	liver:	n/a	n/a
46	TAF1	chr6:24666688-24667675	ECC-1	luminal epithelium:	n/a	n/a
47	MTA3	chr6:24666606-24667989	GM12878	blood:	n/a	n/a
48	TBP	chr6:24666475-24667683	H1-hESC	embryonic stem cell:	n/a	n/a
49	YY1	chr6:24666495-24667449	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr6:24666426-24667718	Hela-S3	cervix:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:57678455..57678978-chr6:24666431..24667204,2	Hela-S3	cervix:
2	chr6:24666490..24670247-chr6:24774150..24780460,9	K562	blood:
3	chr6:24645863..24648986-chr6:24665821..24668897,5	MCF-7	breast:
4	chr6:24665480..24670247-chr6:24773496..24779775,9	K562	blood:
5	chr6:24666041..24667769-chr6:24719597..24721263,2	MCF-7	breast:
6	chr6:24494650..24496587-chr6:24665440..24668079,2	MCF-7	breast:
7	chr6:24494081..24496615-chr6:24665704..24668263,2	K562	blood:
8	chr19:18668513..18669109-chr6:24666457..24667416,2	Hela-S3	cervix:
9	chr6:24660920..24672880-chr6:24713381..24723000,42	K562	blood:
10	chr6:24665745..24668755-chr6:24718443..24722281,4	MCF-7	breast:
11	chr6:24661385..24670379-chr6:24713871..24722680,32	K562	blood:
12	chr6:24645218..24647641-chr6:24665331..24668427,5	MCF-7	breast:

No data

Variant related genes	Relation type
ACOT13	TF binding region
ENSG00000112294	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000112293	Chromatin interaction
ENSG00000174839	Chromatin interaction
ENSG00000137261	Chromatin interaction
ENSG00000241933	Chromatin interaction
ENSG00000112308	Chromatin interaction
ENSG00000112312	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12662779	0.83[AMR][1000 genomes]
rs16889592	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16901739	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17249687	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1883591	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2056998	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2294686	0.91[GIH][hapmap];1.00[MEX][hapmap]
rs2294688	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2294689	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2294690	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2294691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2328847	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2876679	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3181230	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3181233	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3181235	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3181236	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3181237	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3212228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3212229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3212234	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3212235	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3756815	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4298343	1.00[CEU][hapmap]
rs60707509	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7765052	0.89[ASN][1000 genomes]
rs9356944	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs9358786	0.87[ASN][1000 genomes]
rs9358787	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9366579	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9379679	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9379682	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9379686	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs9393575	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9461050	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9467251	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9467253	0.87[ASN][1000 genomes]
rs9467257	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[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	esv3508002	chr6:24618580-24732946	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3508003	chr6:24618580-24732946	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24664000-24668600	Active TSS	Colonic Mucosa	Colon
2	chr6:24664400-24668000	Active TSS	Fetal Intestine Large	intestine
3	chr6:24664600-24668000	Active TSS	Fetal Intestine Small	intestine
4	chr6:24664800-24666800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr6:24665000-24666800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr6:24665400-24666800	Flanking Active TSS	Liver	Liver
7	chr6:24665400-24667000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr6:24665400-24668000	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr6:24665400-24668200	Active TSS	Psoas Muscle	Psoas
10	chr6:24665400-24668200	Active TSS	NHDF-Ad	bronchial
11	chr6:24665600-24666800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:24665600-24667800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:24665600-24668000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:24665600-24668000	Active TSS	GM12878-XiMat	blood
15	chr6:24665600-24668200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:24665600-24668200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:24665600-24668200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr6:24665600-24668400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:24665600-24668400	Active TSS	NHLF	lung
20	chr6:24665800-24666800	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr6:24665800-24666800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr6:24665800-24666800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr6:24665800-24667000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr6:24665800-24667800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:24665800-24667800	Active TSS	Stomach Smooth Muscle	stomach
26	chr6:24665800-24668000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:24665800-24668200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:24665800-24668200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:24665800-24668400	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr6:24665800-24668400	Active TSS	Fetal Brain Female	brain
31	chr6:24665800-24669800	Active TSS	A549	lung
32	chr6:24666000-24666800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr6:24666000-24667600	Active TSS	Fetal Muscle Leg	muscle
34	chr6:24666000-24667800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:24666000-24667800	Active TSS	Brain Anterior Caudate	brain
36	chr6:24666000-24667800	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr6:24666000-24667800	Active TSS	Right Ventricle	heart
38	chr6:24666000-24668000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:24666000-24668000	Active TSS	Aorta	Aorta
40	chr6:24666000-24668000	Active TSS	Ovary	ovary
41	chr6:24666000-24668200	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr6:24666000-24668200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr6:24666000-24668200	Active TSS	Fetal Kidney	kidney
44	chr6:24666000-24668400	Active TSS	H1 Cell Line	embryonic stem cell
45	chr6:24666000-24668400	Active TSS	H9 Cell Line	embryonic stem cell
46	chr6:24666000-24668400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:24666000-24668400	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr6:24666000-24668400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:24666000-24668600	Active TSS	HSMM	muscle
50	chr6:24666000-24669600	Active TSS	K562	blood

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