Variant report

Variant	rs628595
Chromosome Location	chr11:64685482-64685483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr11:64685112-64685592	GM12878	blood:	n/a	n/a
2	TEAD4	chr11:64684363-64685871	K562	blood:	n/a	n/a
3	MXI1	chr11:64683493-64686214	SK-N-SH	brain:	n/a	n/a
4	RFX5	chr11:64684532-64685822	Hela-S3	cervix:	n/a	chr11:64684792-64684801
5	EP300	chr11:64684787-64685692	K562	blood:	n/a	n/a
6	HEY1	chr11:64683309-64685509	K562	blood:	n/a	n/a
7	REST	chr11:64685201-64685969	HL-60	blood:	n/a	n/a
8	NRF1	chr11:64684637-64685530	GM12878	blood:	n/a	chr11:64684970-64684981 chr11:64684970-64684979
9	CUX1	chr11:64684721-64685789	K562	blood:	n/a	n/a
10	MAFK	chr11:64684396-64685783	Hela-S3	cervix:	n/a	n/a
11	CHD1	chr11:64683200-64685890	IMR90	lung:	n/a	chr11:64684690-64684700
12	HCFC1	chr11:64682583-64686155	Hela-S3	cervix:	n/a	n/a
13	NRF1	chr11:64684531-64685878	SK-N-SH	brain:	n/a	chr11:64684970-64684981 chr11:64684970-64684979
14	REST	chr11:64685475-64685852	GM12878	blood:	n/a	n/a
15	MAX	chr11:64684262-64685549	ECC-1	luminal epithelium:	n/a	n/a
16	SMC3	chr11:64685466-64685912	Hela-S3	cervix:	n/a	n/a
17	MXI1	chr11:64683562-64685895	IMR90	lung:	n/a	n/a
18	SREBP2	chr11:64684331-64685966	GM12878	blood:	n/a	n/a
19	MXI1	chr11:64683689-64685563	GM12878	blood:	n/a	n/a
20	CTCF	chr11:64685360-64685510	HCFaa	heart:	n/a	n/a
21	ARID3A	chr11:64684697-64685754	K562	blood:	n/a	n/a
22	RAD21	chr11:64685379-64686017	SK-N-SH	brain:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64683710..64686843-chr11:64689150..64693843,9	MCF-7	breast:
2	chr11:64683667..64685834-chr11:64900771..64903507,2	K562	blood:
3	chr11:64683512..64686373-chr11:64701129..64703249,2	MCF-7	breast:
4	chr11:64644179..64646943-chr11:64683100..64687957,8	MCF-7	breast:
5	chr11:64683337..64686600-chr11:64690985..64694112,6	MCF-7	breast:
6	chr11:64659914..64665589-chr11:64679566..64685622,11	K562	blood:
7	chr11:64684182..64687060-chr11:64693697..64696129,2	K562	blood:
8	chr11:64644503..64648099-chr11:64683052..64686363,9	K562	blood:
9	chr11:64651561..64659485-chr11:64681552..64686807,18	K562	blood:
10	chr11:64544525..64547813-chr11:64683284..64685866,4	K562	blood:
11	chr11:64681819..64686102-chr11:64779905..64782957,5	MCF-7	breast:
12	chr11:64683021..64685981-chr11:64781625..64784265,4	MCF-7	breast:
13	chr11:64685128..64685839-chr11:64764181..64764859,3	MCF-7	breast:
14	chr11:64684554..64685511-chr11:64889205..64889718,2	Hela-S3	cervix:
15	chr11:64683299..64686210-chr11:64705910..64707683,2	K562	blood:
16	chr11:64682540..64686355-chr11:64876478..64880305,4	K562	blood:
17	chr11:64543951..64548420-chr11:64681372..64686852,8	K562	blood:
18	chr11:64682450..64685608-chr11:64808232..64811277,3	MCF-7	breast:
19	chr11:64684925..64687410-chr11:64879641..64882846,3	MCF-7	breast:
20	chr11:64684657..64687217-chr11:64779880..64782895,3	K562	blood:

No data

Variant related genes	Relation type
ATG2A	TF binding region
ENSG00000068971	Chromatin interaction
ENSG00000168070	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000229719	Chromatin interaction
ENSG00000207648	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000149735	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000168062	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000267804	Chromatin interaction
ENSG00000203400	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10488702	1.00[CEU][hapmap]
rs11827610	1.00[CEU][hapmap];0.94[GIH][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs12286941	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17146407	1.00[CEU][hapmap]
rs17146506	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs17146508	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap]
rs17146511	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs17146515	1.00[CEU][hapmap]
rs17146519	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs17146528	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs17146539	1.00[CEU][hapmap]
rs17146541	1.00[CEU][hapmap]
rs17146543	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs17146544	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs17146569	1.00[CEU][hapmap]
rs17146575	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs2904963	0.91[ASW][hapmap]
rs35079323	0.83[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35115827	0.86[EUR][1000 genomes]
rs3867127	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs3888184	1.00[CEU][hapmap]
rs4320955	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs57365630	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57393537	0.94[EUR][1000 genomes]
rs59677833	0.83[EUR][1000 genomes]
rs601047	0.81[ASW][hapmap]
rs601805	0.81[ASW][hapmap]
rs606412	0.81[ASW][hapmap]
rs60711419	0.86[EUR][1000 genomes]
rs60798873	0.94[EUR][1000 genomes]
rs61024397	0.94[EUR][1000 genomes]
rs61741079	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61742063	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs619328	0.81[ASW][hapmap]
rs630585	0.81[ASW][hapmap]
rs632555	0.81[ASW][hapmap]
rs643949	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs646778	0.85[AFR][1000 genomes]
rs647489	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs664997	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs677805	0.81[ASW][hapmap]
rs7102350	1.00[CEU][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs7103328	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs7113751	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7123368	1.00[CEU][hapmap]
rs7482817	1.00[CEU][hapmap]
rs7942472	1.00[CEU][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs885999	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
10	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64683400-64685600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:64683400-64685800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:64683600-64685600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:64683600-64685800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:64683800-64685600	Active TSS	Aorta	Aorta
6	chr11:64683800-64685800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr11:64683800-64686000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:64684000-64685600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:64684000-64685600	Active TSS	Ovary	ovary
10	chr11:64684000-64685800	Active TSS	Left Ventricle	heart
11	chr11:64684000-64685800	Active TSS	Right Atrium	heart
12	chr11:64684000-64686000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:64684000-64686000	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr11:64684000-64686200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:64684200-64685600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:64684200-64685600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:64684200-64685600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:64684200-64685600	Active TSS	Brain Substantia Nigra	brain
19	chr11:64684200-64685600	Active TSS	K562	blood
20	chr11:64684200-64685800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr11:64684200-64685800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:64684200-64685800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:64684200-64685800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:64684200-64685800	Active TSS	Fetal Muscle Trunk	muscle
25	chr11:64684200-64685800	Active TSS	Psoas Muscle	Psoas
26	chr11:64684200-64685800	Active TSS	Rectal Smooth Muscle	rectum
27	chr11:64684200-64685800	Active TSS	Right Ventricle	heart
28	chr11:64684200-64686000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:64684200-64686000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:64684200-64686000	Active TSS	Brain Angular Gyrus	brain
31	chr11:64684200-64686000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:64684400-64685600	Active TSS	Brain Anterior Caudate	brain
33	chr11:64684400-64685800	Active TSS	Brain Cingulate Gyrus	brain
34	chr11:64684400-64685800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:64684400-64685800	Active TSS	Colonic Mucosa	Colon
36	chr11:64684800-64685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:64684800-64685800	Active TSS	HepG2	liver
38	chr11:64684800-64691000	Weak transcription	Gastric	stomach
39	chr11:64684800-64691000	Weak transcription	Spleen	Spleen
40	chr11:64685000-64685600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr11:64685000-64685600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr11:64685000-64685600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr11:64685000-64685800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr11:64685000-64685800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr11:64685000-64685800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:64685000-64685800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:64685000-64685800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:64685000-64685800	Flanking Active TSS	Hela-S3	cervix
49	chr11:64685000-64685800	Flanking Active TSS	HUVEC	blood vessel
50	chr11:64685000-64685800	Flanking Active TSS	Osteobl	bone

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