Variant report

Variant	rs45482297
Chromosome Location	chr6:35265535-35265536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:482)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr6:35265208-35265615	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFIC	chr6:35265286-35265751	GM12878	blood:	n/a	n/a
3	ZC3H11A	chr6:35265353-35265764	K562	blood:	n/a	n/a
4	FOXP2	chr6:35265358-35265810	PFSK-1	brain:	n/a	n/a
5	CTCF	chr6:35265420-35265570	HCM	heart:	n/a	n/a
6	ELK1	chr6:35265359-35265828	GM12878	blood:	n/a	n/a
7	MYC	chr6:35265360-35265738	H1-hESC	embryonic stem cell:	n/a	chr6:35265383-35265393
8	TBP	chr6:35265334-35265948	K562	blood:	n/a	chr6:35265357-35265368
9	CEBPB	chr6:35265433-35265728	HepG2	liver:	n/a	n/a
10	CTCF	chr6:35265312-35265717	HepG2	liver:	n/a	chr6:35265605-35265618
11	ZMIZ1	chr6:35265298-35265755	K562	blood:	n/a	n/a
12	CTCF	chr6:35265440-35265590	WERI-Rb-1	eye:	n/a	n/a
13	FOXM1	chr6:35265279-35266316	GM12878	blood:	n/a	n/a
14	POU2F2	chr6:35265288-35265812	GM12878	blood:	n/a	n/a
15	ELF1	chr6:35265197-35265967	MCF-7	breast:	n/a	n/a
16	POLR2A	chr6:35265360-35265879	GM12892	blood:	n/a	n/a
17	E2F6	chr6:35265175-35265798	H1-hESC	embryonic stem cell:	n/a	chr6:35265404-35265415
18	ELF1	chr6:35265168-35266038	MCF-7	breast:	n/a	n/a
19	EBF1	chr6:35265398-35265681	GM12878	blood:	n/a	n/a
20	EP300	chr6:35265354-35266034	GM12878	blood:	n/a	n/a
21	CTCF	chr6:35265520-35265670	NHLF	lung:	n/a	chr6:35265605-35265618
22	TCF7L2	chr6:35265400-35265815	HCT-116	colon:	n/a	n/a
23	CTCF	chr6:35265420-35265570	AoAF	blood vessel:	n/a	n/a
24	RAD21	chr6:35265186-35265834	MCF-7	breast:	n/a	chr6:35265604-35265617 chr6:35265605-35265615 chr6:35265516-35265529
25	TCF12	chr6:35265377-35265736	GM12878	blood:	n/a	n/a
26	RAD21	chr6:35265356-35265808	A549	lung:	n/a	chr6:35265604-35265617 chr6:35265605-35265615 chr6:35265516-35265529
27	BRCA1	chr6:35265334-35265686	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr6:35265388-35265665	GM10248	blood:	n/a	chr6:35265605-35265618
29	GABPA	chr6:35265439-35265718	K562	blood:	n/a	n/a
30	SP4	chr6:35265239-35265758	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr6:35265381-35265678	H1-hESC	embryonic stem cell:	n/a	chr6:35265605-35265618
32	CTCF	chr6:35265259-35265730	H1-hESC	embryonic stem cell:	n/a	chr6:35265605-35265618
33	BHLHE40	chr6:35265308-35266149	K562	blood:	n/a	chr6:35265609-35265625
34	CTCF	chr6:35265421-35265665	Kidney_OC	kidney:	n/a	chr6:35265605-35265618
35	CTCF	chr6:35265367-35265678	K562	blood:	n/a	chr6:35265605-35265618
36	GTF2F1	chr6:35265390-35265716	K562	blood:	n/a	n/a
37	ZBTB7A	chr6:35265417-35265675	HepG2	liver:	n/a	n/a
38	POLR2A	chr6:35265409-35265952	MCF-7	breast:	n/a	n/a
39	RUNX3	chr6:35265259-35266193	GM12878	blood:	n/a	n/a
40	E2F6	chr6:35265179-35266051	K562	blood:	n/a	chr6:35265404-35265415
41	CTCF	chr6:35265219-35265856	SK-N-SH	brain:	n/a	chr6:35265605-35265618
42	TBL1XR1	chr6:35265345-35265743	GM12878	blood:	n/a	n/a
43	UBTF	chr6:35265379-35265858	K562	blood:	n/a	n/a
44	MBD4	chr6:35265241-35265742	HepG2	liver:	n/a	n/a
45	HDAC2	chr6:35265403-35265743	K562	blood:	n/a	n/a
46	JUND	chr6:35265382-35265707	HepG2	liver:	n/a	n/a
47	CTCF	chr6:35265286-35265661	H1-hESC	embryonic stem cell:	n/a	chr6:35265605-35265618
48	POLR2A	chr6:35265272-35266295	GM12878	blood:	n/a	n/a
49	CTCF	chr6:35265480-35265630	HAc	cerebellar:	n/a	chr6:35265605-35265618
50	CTCF	chr6:35265296-35265762	GM12878	blood:	n/a	chr6:35265605-35265618

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35265534-35265584	HIPEpiC	eye:	n/a
2	chr6:35265534-35265584	HepG2	liver:	n/a
3	chr6:35265534-35265584	ovcar-3	ovarian:	n/a
4	chr6:35265534-35265584	HUVEC	blood vessel:	n/a
5	chr6:35265534-35265584	HCM	heart:	n/a
6	chr6:35265534-35265584	HRE	kidney:	n/a
7	chr6:35265534-35265584	HMEC	breast:	n/a
8	chr6:35265534-35265584	SK-N-SH_RA	brain:	n/a
9	chr6:35265534-35265584	HEEpiC	esophagus:	n/a
10	chr6:35265534-35265584	AG04449	skin:	fetal
11	chr6:35265534-35265584	NB4	blood:	n/a
12	chr6:35265534-35265584	HL-60	blood:	n/a
13	chr6:35265534-35265584	SK-N-SH	brain:	n/a
14	chr6:35265534-35265584	Hela-S3	cervix:	n/a
15	chr6:35265534-35265584	MCF10A-Er-Src	breast:	n/a
16	chr6:35265534-35265584	GM12878	blood:	n/a
17	chr6:35265534-35265584	NT2-D1	testis:	n/a
18	chr6:35265534-35265584	GM19239	blood:	n/a
19	chr6:35265534-35265584	ECC-1	luminal epithelium:	n/a
20	chr6:35265534-35265584	K562	blood:	n/a
21	chr6:35265534-35265584	HRCEpiC	kidney:	n/a
22	chr6:35265534-35265584	NH-A	brain:	n/a
23	chr6:35265534-35265584	HCF	heart:	n/a
24	chr6:35265534-35265584	AG04450	lung:	fetal
25	chr6:35265534-35265584	MCF-7	breast:	n/a
26	chr6:35265534-35265584	PrEC	prostate:	n/a
27	chr6:35265534-35265584	Jurkat	blood:	n/a
28	chr6:35265534-35265584	U87	brain:	n/a
29	chr6:35265534-35265584	GM12891	blood:	n/a
30	chr6:35265534-35265584	GM12892	blood:	n/a
31	chr6:35265534-35265584	AoSMC	blood vessel:	n/a
32	chr6:35265534-35265584	BE2_C	brain:	n/a
33	chr6:35265534-35265584	AG10803	skin:	n/a
34	chr6:35265534-35265584	HCT-116	colon:	n/a
35	chr6:35265534-35265584	NHDF-neo	bronchial:	n/a
36	chr6:35265534-35265584	CMK	blood:	n/a
37	chr6:35265534-35265584	Caco-2	colon:	n/a
38	chr6:35265534-35265584	LNCaP	prostate:	n/a
39	chr6:35265534-35265584	SKMC	muscle:	n/a
40	chr6:35265534-35265584	HRPEpiC	eye:	n/a
41	chr6:35265534-35265584	T-47D	breast:	n/a
42	chr6:35265534-35265584	SK-N-MC	brain:	n/a
43	chr6:35265534-35265584	AG09319	gingival:	n/a
44	chr6:35265534-35265584	Hepatocyte	liver:	n/a
45	chr6:35265534-35265584	A549	lung:	n/a
46	chr6:35265534-35265584	AG09309	skin:	n/a
47	chr6:35265534-35265584	HCPEpiC	choroid plexus:	n/a
48	chr6:35265534-35265584	RPTEC	kidney:	n/a
49	chr6:35265534-35265584	BJ	skin:	n/a
50	chr6:35265534-35265584	HNPCEpiC	eye:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35257372..35267692-chr6:35433856..35438688,25	K562	blood:
2	chr6:35265057..35265957-chr6:35419424..35420709,3	K562	blood:
3	chr6:35264065..35266185-chr6:35435418..35437067,2	MCF-7	breast:
4	chr6:35260730..35269335-chr6:35433870..35444063,22	MCF-7	breast:
5	chr6:35265003..35267090-chr6:35463346..35464932,2	K562	blood:
6	chr6:35261055..35266113-chr6:35308586..35312212,6	K562	blood:
7	chr6:35262981..35267829-chr6:35418945..35424124,7	K562	blood:
8	chr6:35257372..35267871-chr6:35433266..35439192,25	K562	blood:
9	chr6:35265354..35265988-chr6:35435663..35436240,2	MCF-7	breast:
10	chr6:35265112..35265974-chr6:35435522..35436961,5	MCF-7	breast:
11	chr6:35260793..35263953-chr6:35263989..35266366,4	K562	blood:
12	chr6:35265067..35266084-chr6:35435395..35436525,11	K562	blood:
13	chr10:126106993..126107965-chr6:35265223..35265797,2	HCT-116	colon:
14	chr6:35263661..35265616-chr6:35463054..35466039,2	MCF-7	breast:
15	chr6:35265198..35265903-chr6:35309667..35310572,2	MCF-7	breast:

No data

Variant related genes	Relation type
DEF6	TF binding region
DEF6	CpG island
ENSG00000065154	Chromatin interaction
ENSG00000198755	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000112033	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000112039	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1034450	1.00[ASN][1000 genomes]
rs10428744	1.00[ASN][1000 genomes]
rs1077822	1.00[ASN][1000 genomes]
rs11962521	1.00[ASN][1000 genomes]
rs11962524	1.00[ASN][1000 genomes]
rs12110520	1.00[ASN][1000 genomes]
rs12110664	1.00[ASN][1000 genomes]
rs12111424	1.00[ASN][1000 genomes]
rs16868695	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868699	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872293	1.00[ASN][1000 genomes]
rs16874216	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004	1.00[ASN][1000 genomes]
rs2187903	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2228265	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28627111	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2894400	1.00[ASN][1000 genomes]
rs34278260	1.00[ASN][1000 genomes]
rs34474204	0.80[EUR][1000 genomes]
rs41270046	1.00[ASN][1000 genomes]
rs41270062	1.00[ASN][1000 genomes]
rs56809926	1.00[ASN][1000 genomes]
rs57229653	1.00[ASN][1000 genomes]
rs57468283	1.00[ASN][1000 genomes]
rs57794912	1.00[ASN][1000 genomes]
rs57856268	1.00[ASN][1000 genomes]
rs58796597	1.00[ASN][1000 genomes]
rs59654131	0.80[EUR][1000 genomes]
rs59757151	1.00[ASN][1000 genomes]
rs59895076	1.00[ASN][1000 genomes]
rs60086237	1.00[ASN][1000 genomes]
rs60113507	1.00[ASN][1000 genomes]
rs60569490	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61280851	0.80[EUR][1000 genomes]
rs61592141	1.00[ASN][1000 genomes]
rs61734578	1.00[ASN][1000 genomes]
rs6457817	1.00[ASN][1000 genomes]
rs6900879	1.00[ASN][1000 genomes]
rs6901580	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6904477	1.00[ASN][1000 genomes]
rs6905732	1.00[ASN][1000 genomes]
rs6911817	1.00[ASN][1000 genomes]
rs6923025	1.00[ASN][1000 genomes]
rs6934083	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938138	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939017	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403887	1.00[ASN][1000 genomes]
rs73405709	1.00[ASN][1000 genomes]
rs73405725	1.00[ASN][1000 genomes]
rs73405759	1.00[ASN][1000 genomes]
rs73405765	1.00[ASN][1000 genomes]
rs73405768	1.00[ASN][1000 genomes]
rs73405774	1.00[ASN][1000 genomes]
rs73405795	1.00[ASN][1000 genomes]
rs73405799	1.00[ASN][1000 genomes]
rs73407610	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407613	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407619	1.00[ASN][1000 genomes]
rs73407641	1.00[ASN][1000 genomes]
rs73407650	1.00[ASN][1000 genomes]
rs73407675	1.00[ASN][1000 genomes]
rs73409710	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409758	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409765	1.00[ASN][1000 genomes]
rs73409769	1.00[ASN][1000 genomes]
rs73409774	1.00[ASN][1000 genomes]
rs73409778	1.00[ASN][1000 genomes]
rs73409793	1.00[ASN][1000 genomes]
rs73411706	1.00[ASN][1000 genomes]
rs73411720	1.00[ASN][1000 genomes]
rs73411726	1.00[ASN][1000 genomes]
rs73411797	1.00[ASN][1000 genomes]
rs73746425	1.00[ASN][1000 genomes]
rs73746430	1.00[ASN][1000 genomes]
rs743965	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7744392	0.80[EUR][1000 genomes]
rs7758272	0.80[EUR][1000 genomes]
rs7771323	0.84[EUR][1000 genomes]
rs7773319	1.00[ASN][1000 genomes]
rs820102	1.00[ASN][1000 genomes]
rs9462062	1.00[ASN][1000 genomes]
rs9462064	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9469960	1.00[ASN][1000 genomes]
rs9469967	1.00[ASN][1000 genomes]
rs9469989	0.84[AMR][1000 genomes]
rs9658061	0.80[EUR][1000 genomes]
rs9658080	0.80[EUR][1000 genomes]
rs9658127	1.00[ASN][1000 genomes]
rs9658131	1.00[ASN][1000 genomes]
rs9942465	1.00[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	esv2758047	chr6:35168116-35291002	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv2759419	chr6:35168116-35291002	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35248800-35265800	Strong transcription	Brain Inferior Temporal Lobe	brain
2	chr6:35249000-35266800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:35251000-35266800	Weak transcription	Fetal Brain Male	brain
4	chr6:35260800-35265600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:35261000-35265600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:35261200-35270400	Weak transcription	Hela-S3	cervix
7	chr6:35261600-35265600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:35261800-35265600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:35261800-35265600	Weak transcription	Small Intestine	intestine
10	chr6:35263000-35265600	Weak transcription	Fetal Kidney	kidney
11	chr6:35263000-35270400	Weak transcription	A549	lung
12	chr6:35263200-35265600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:35263200-35270600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:35263200-35270600	Weak transcription	NHDF-Ad	bronchial
15	chr6:35263400-35265600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:35263400-35265800	Weak transcription	Brain Angular Gyrus	brain
17	chr6:35263400-35270200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:35263600-35266000	Weak transcription	Aorta	Aorta
19	chr6:35263800-35265600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:35264000-35265600	Enhancers	Left Ventricle	heart
21	chr6:35264000-35265600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:35264200-35265600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:35264400-35265600	Enhancers	HMEC	breast
24	chr6:35264400-35266200	Weak transcription	Ovary	ovary
25	chr6:35264400-35267400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:35264600-35265600	Weak transcription	Brain Anterior Caudate	brain
27	chr6:35264600-35265600	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:35264600-35265600	Enhancers	Lung	lung
29	chr6:35264600-35265600	Enhancers	Right Ventricle	heart
30	chr6:35264600-35265800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:35264600-35270400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:35264800-35265600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:35264800-35265600	Enhancers	Gastric	stomach
34	chr6:35264800-35265600	Enhancers	Spleen	Spleen
35	chr6:35264800-35269400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr6:35265000-35265600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr6:35265000-35265600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:35265000-35265600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:35265000-35265600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr6:35265000-35265600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr6:35265000-35265600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr6:35265000-35265600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:35265000-35265600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:35265000-35265600	Weak transcription	Liver	Liver
45	chr6:35265000-35265600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr6:35265000-35265600	Enhancers	Fetal Intestine Large	intestine
47	chr6:35265000-35265600	Enhancers	Placenta	Placenta
48	chr6:35265000-35265600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr6:35265000-35265600	Flanking Active TSS	Dnd41	blood
50	chr6:35265000-35265800	Enhancers	Psoas Muscle	Psoas

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