Variant report

Variant	rs6456104
Chromosome Location	chr6:167120750-167120751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:183)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:183 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:167120607-167120883	ECC-1	luminal epithelium:	n/a	n/a
2	ZNF143	chr6:167120525-167120880	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr6:167120620-167120770	SK-N-SH_RA	brain:	n/a	n/a
4	MAX	chr6:167120628-167120882	H1-hESC	embryonic stem cell:	n/a	chr6:167120817-167120827
5	CTCF	chr6:167120620-167120770	GM12874	blood:	n/a	n/a
6	CTCF	chr6:167120589-167120837	GM19239	blood:	n/a	n/a
7	RAD21	chr6:167120368-167121109	HCT-116	colon:	n/a	n/a
8	RAD21	chr6:167120566-167120783	K562	blood:	n/a	n/a
9	CTCF	chr6:167120640-167120790	GM12873	blood:	n/a	n/a
10	MAX	chr6:167120527-167120965	NB4	blood:	n/a	chr6:167120951-167120962 chr6:167120817-167120827
11	CTCF	chr6:167120603-167120824	Fibrobl	skin:	n/a	n/a
12	CTCF	chr6:167120640-167120790	HBMEC	blood vessel:	n/a	n/a
13	GABPA	chr6:167120552-167120919	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:167120680-167120830	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:167120574-167120823	MCF-7	breast:	n/a	n/a
16	POLR2A	chr6:167120569-167120927	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUND	chr6:167120550-167120895	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr6:167120620-167120770	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr6:167120660-167120810	GM12868	blood:	n/a	n/a
20	CTCF	chr6:167120590-167120794	T-47D	breast:	n/a	n/a
21	MYC	chr6:167120612-167120837	MCF-7	breast:	n/a	chr6:167120817-167120827
22	CTCF	chr6:167120574-167120832	ProgFib	skin:	n/a	n/a
23	CTCF	chr6:167120640-167120790	A549	lung:	n/a	n/a
24	CTCF	chr6:167120600-167120750	GM12872	blood:	n/a	n/a
25	CTCF	chr6:167120497-167120882	K562	blood:	n/a	n/a
26	RAD21	chr6:167120454-167120936	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr6:167120600-167120750	GM12875	blood:	n/a	n/a
28	CTCF	chr6:167120620-167120770	HCPEpiC	choroid plexus:	n/a	n/a
29	EGR1	chr6:167120634-167120893	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr6:167120518-167120879	GM12878	blood:	n/a	n/a
31	CTCF	chr6:167120581-167120832	GM12878	blood:	n/a	n/a
32	CTCF	chr6:167120620-167120770	GM12872	blood:	n/a	n/a
33	CTCF	chr6:167120640-167120790	GM12865	blood:	n/a	n/a
34	CTCF	chr6:167120558-167120814	HepG2	liver:	n/a	n/a
35	CTCF	chr6:167120640-167120790	HMF	breast:	n/a	n/a
36	CTCF	chr6:167120620-167120770	HCT-116	colon:	n/a	n/a
37	SMC3	chr6:167120551-167120793	HepG2	liver:	n/a	n/a
38	CTCF	chr6:167120640-167120790	AoAF	blood vessel:	n/a	n/a
39	SIN3A	chr6:167120587-167120867	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr6:167120612-167120802	GM20000	blood:	n/a	n/a
41	CTCF	chr6:167120589-167120839	MCF-7	breast:	n/a	n/a
42	CTCF	chr6:167120620-167120770	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr6:167120640-167120790	AG04449	skin:	n/a	n/a
44	CTCF	chr6:167120600-167120750	HepG2	liver:	n/a	n/a
45	CTCF	chr6:167120600-167120750	HEK293	kidney:	n/a	n/a
46	YY1	chr6:167120501-167120861	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr6:167120545-167120872	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr6:167120620-167120770	GM12801	blood:	n/a	n/a
49	CTCF	chr6:167120640-167120790	GM12878	blood:	n/a	n/a
50	CTCF	chr6:167120600-167120750	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167039986..167042610-chr6:167119069..167121517,2	MCF-7	breast:
2	chr6:167120732..167121236-chr6:167185691..167186290,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235008	TF binding region
ENSG00000071242	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11754784	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs12206980	0.89[EUR][1000 genomes]
rs12660310	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs2345259	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs3734602	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs3817828	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs4709127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4710081	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs4710084	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs4710085	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs6456105	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs66549668	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6928848	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs7766655	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs7768943	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs874276	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs874277	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs9295366	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs9356512	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs9366049	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9459725	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1020888	chr6:167059455-167136562	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv538540	chr6:167059455-167136562	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2754464	chr6:167059528-167130749	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv482478	chr6:167071366-167265821	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1022866	chr6:167108740-167345629	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167115000-167120800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:167118000-167123800	Weak transcription	Fetal Brain Male	brain
3	chr6:167118200-167126200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:167118400-167120800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:167119400-167122800	Weak transcription	Fetal Stomach	stomach
6	chr6:167120000-167120800	Enhancers	Pancreas	Pancrea
7	chr6:167120200-167120800	Enhancers	Brain Anterior Caudate	brain
8	chr6:167120400-167120800	Enhancers	Fetal Kidney	kidney
9	chr6:167120400-167121000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:167120400-167121000	Enhancers	Liver	Liver
11	chr6:167120400-167121000	Enhancers	Brain Cingulate Gyrus	brain
12	chr6:167120400-167121000	Enhancers	Brain Substantia Nigra	brain
13	chr6:167120400-167121000	Enhancers	Duodenum Mucosa	Duodenum
14	chr6:167120400-167121400	Enhancers	Stomach Mucosa	stomach
15	chr6:167120600-167120800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:167120600-167120800	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr6:167120600-167120800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr6:167120600-167120800	Enhancers	Gastric	stomach
19	chr6:167120600-167120800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr6:167120600-167121000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr6:167120600-167121000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:167120600-167121000	Enhancers	Fetal Thymus	thymus
23	chr6:167120600-167121000	Enhancers	NH-A	brain

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