Variant report

Variant	rs11488669
Chromosome Location	chr1:153517519-153517520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:199)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:199 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr1:153517410-153517804	K562	blood:	n/a	n/a
2	HNF4G	chr1:153517510-153517853	HepG2	liver:	n/a	n/a
3	ATF3	chr1:153517378-153518082	A549	lung:	n/a	n/a
4	KAP1	chr1:153517270-153518036	U2OS	brain:	n/a	n/a
5	TAF1	chr1:153517482-153517962	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:153517182-153518481	K562	blood:	n/a	n/a
7	POLR2A	chr1:153514448-153518753	Hela-S3	cervix:	n/a	n/a
8	EP300	chr1:153517425-153518079	T-47D	breast:	n/a	n/a
9	POLR2A	chr1:153516977-153518458	A549	lung:	n/a	n/a
10	HEY1	chr1:153517320-153517974	K562	blood:	n/a	n/a
11	RFX5	chr1:153517420-153518905	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr1:153517408-153517922	K562	blood:	n/a	n/a
13	TAF1	chr1:153517349-153518609	A549	lung:	n/a	n/a
14	YY1	chr1:153517434-153517741	K562	blood:	n/a	n/a
15	POLR2A	chr1:153517338-153518575	A549	lung:	n/a	n/a
16	POLR2A	chr1:153516727-153518754	SK-N-MC	brain:	n/a	n/a
17	SP1	chr1:153517440-153517834	K562	blood:	n/a	chr1:153517568-153517579 chr1:153517617-153517626 chr1:153517725-153517734 chr1:153517616-153517628 chr1:153517616-153517628 chr1:153517616-153517627 chr1:153517720-153517733
18	ZBTB33	chr1:153517402-153518402	A549	lung:	n/a	n/a
19	REST	chr1:153517093-153518753	A549	lung:	n/a	chr1:153518621-153518634 chr1:153518563-153518576
20	MYC	chr1:153517401-153518597	Hela-S3	cervix:	n/a	n/a
21	MAX	chr1:153517391-153518393	A549	lung:	n/a	n/a
22	BCL3	chr1:153517280-153518595	A549	lung:	n/a	n/a
23	YY1	chr1:153517104-153518644	A549	lung:	n/a	n/a
24	MYC	chr1:153517306-153518676	NB4	blood:	n/a	n/a
25	E2F4	chr1:153517509-153517938	MCF10A-Er-Src	breast:	n/a	n/a
26	SPI1	chr1:153517327-153518558	HL-60	blood:	n/a	n/a
27	MAX	chr1:153517155-153518101	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr1:153517252-153518703	HL-60	blood:	n/a	n/a
29	HDAC2	chr1:153517508-153518295	MCF-7	breast:	n/a	chr1:153518031-153518045
30	YY1	chr1:153517514-153517898	HCT-116	colon:	n/a	n/a
31	USF1	chr1:153517359-153517738	K562	blood:	n/a	n/a
32	TCF12	chr1:153517295-153518597	A549	lung:	n/a	n/a
33	MYC	chr1:153517516-153518026	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr1:153517333-153518592	A549	lung:	n/a	n/a
35	POLR2A	chr1:153517166-153518620	Hela-S3	cervix:	n/a	n/a
36	SIN3AK20	chr1:153517334-153517976	PANC-1	pancreas:	n/a	n/a
37	BHLHE40	chr1:153517459-153518311	K562	blood:	n/a	n/a
38	MYC	chr1:153517475-153517903	K562	blood:	n/a	n/a
39	EGR1	chr1:153517413-153517741	K562	blood:	n/a	n/a
40	MAFK	chr1:153517443-153518158	K562	blood:	n/a	n/a
41	CREB1	chr1:153517413-153518490	A549	lung:	n/a	n/a
42	YY1	chr1:153517419-153518000	ECC-1	luminal epithelium:	n/a	n/a
43	MAFK	chr1:153517430-153518323	Hela-S3	cervix:	n/a	n/a
44	ZBTB7A	chr1:153517403-153517751	K562	blood:	n/a	n/a
45	TAF1	chr1:153517235-153518329	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr1:153517356-153517863	HUVEC	blood vessel:	n/a	n/a
47	TBL1XR1	chr1:153517489-153517907	K562	blood:	n/a	n/a
48	KAP1	chr1:153517281-153518132	HEK293	kidney:	n/a	n/a
49	MAX	chr1:153517358-153518572	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr1:153517217-153518582	Hela-S3	cervix:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153516187..153518294-chr1:153538747..153540345,2	K562	blood:
2	chr1:153511083..153513930-chr1:153515986..153517623,2	K562	blood:
3	chr1:153516334..153517838-chr1:153905134..153907202,2	MCF-7	breast:
4	chr1:153506339..153510656-chr1:153517043..153519160,4	K562	blood:
5	chr1:153515275..153518447-chr1:153598676..153601896,4	MCF-7	breast:
6	chr1:153505949..153508623-chr1:153516119..153518362,2	K562	blood:
7	chr1:153517312..153518218-chr18:61033935..61034904,2	Hela-S3	cervix:
8	chr1:153508634..153510673-chr1:153516202..153519160,2	K562	blood:
9	chr1:153515934..153518266-chr1:153581311..153583180,3	MCF-7	breast:
10	chr1:153517311..153517987-chr10:120839471..120840342,2	Hela-S3	cervix:
11	chr1:153515310..153522123-chr1:153537390..153541283,13	MCF-7	breast:

No data

Variant related genes	Relation type
S100A5	TF binding region
ENSG00000267390	Chromatin interaction
ENSG00000107581	Chromatin interaction
ENSG00000196420	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000238279	Chromatin interaction
ENSG00000160678	Chromatin interaction
ENSG00000188643	Chromatin interaction
ENSG00000119537	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000198837	Chromatin interaction
ENSG00000189171	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1047325	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs1050923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16835437	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs16835455	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1810765	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28452456	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28548347	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594230	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28689606	0.94[EUR][1000 genomes]
rs28718953	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36022742	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs41265162	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41265164	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4595398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55955983	0.97[EUR][1000 genomes]
rs56043239	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56057245	0.82[EUR][1000 genomes]
rs56089062	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56350425	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56838169	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57024596	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58056804	0.94[EUR][1000 genomes]
rs58072118	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59376279	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60218214	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60287468	0.94[EUR][1000 genomes]
rs60969679	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61265945	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61558997	0.88[EUR][1000 genomes]
rs6427301	0.97[EUR][1000 genomes]
rs6671398	0.91[EUR][1000 genomes]
rs6700310	0.88[EUR][1000 genomes]
rs6702891	0.90[GIH][hapmap]
rs6703014	0.90[GIH][hapmap]
rs73026350	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115473	0.94[EUR][1000 genomes]
rs74115476	0.94[EUR][1000 genomes]
rs743687	0.84[EUR][1000 genomes]
rs7535476	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8401	1.00[CEU][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs9427239	0.85[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153509400-153527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:153512400-153522400	Enhancers	Stomach Mucosa	stomach
3	chr1:153515000-153518000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:153515400-153518000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
5	chr1:153515400-153518600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:153515400-153518600	Enhancers	Osteobl	bone
7	chr1:153515400-153522800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:153515400-153523000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:153515600-153518200	Enhancers	Fetal Kidney	kidney
10	chr1:153515600-153518800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr1:153515600-153520000	Enhancers	HMEC	breast
12	chr1:153515800-153518000	Enhancers	Fetal Heart	heart
13	chr1:153516200-153518600	Enhancers	Fetal Lung	lung
14	chr1:153516200-153520600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:153516400-153518200	Flanking Active TSS	K562	blood
16	chr1:153516400-153518600	Enhancers	Small Intestine	intestine
17	chr1:153516400-153518800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr1:153516400-153519000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr1:153516600-153519000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr1:153516800-153517600	Flanking Active TSS	Right Atrium	heart
21	chr1:153516800-153518000	Enhancers	Brain Germinal Matrix	brain
22	chr1:153516800-153518400	Enhancers	NH-A	brain
23	chr1:153516800-153518600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:153516800-153518600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr1:153516800-153518600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr1:153516800-153518600	Flanking Active TSS	Colonic Mucosa	Colon
27	chr1:153516800-153518600	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr1:153516800-153518600	Flanking Active TSS	Fetal Thymus	thymus
29	chr1:153516800-153518600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr1:153516800-153518600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr1:153516800-153518800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr1:153516800-153518800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr1:153516800-153518800	Flanking Active TSS	Esophagus	oesophagus
34	chr1:153516800-153518800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr1:153516800-153519000	Enhancers	Fetal Intestine Large	intestine
36	chr1:153516800-153519200	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr1:153516800-153519600	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr1:153516800-153520400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:153516800-153521800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:153516800-153522000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:153516800-153522400	Enhancers	Fetal Intestine Small	intestine
42	chr1:153517000-153517800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:153517000-153517800	Enhancers	Brain Hippocampus Middle	brain
44	chr1:153517000-153518000	Flanking Active TSS	Fetal Stomach	stomach
45	chr1:153517000-153518000	Flanking Active TSS	Dnd41	blood
46	chr1:153517000-153518200	Flanking Active TSS	Pancreas	Pancrea
47	chr1:153517000-153518200	Enhancers	HUVEC	blood vessel
48	chr1:153517000-153518400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:153517000-153518400	Flanking Active TSS	Psoas Muscle	Psoas
50	chr1:153517000-153518400	Flanking Active TSS	HepG2	liver

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