Variant report

Variant	rs7502265
Chromosome Location	chr17:45253958-45253959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:45253912-45254193	GM12891	blood:	n/a	n/a
2	POLR2A	chr17:45253821-45254151	Hela-S3	cervix:	n/a	n/a
3	BCLAF1	chr17:45253656-45254382	K562	blood:	n/a	n/a
4	TAF7	chr17:45253839-45254081	K562	blood:	n/a	n/a
5	POLR2A	chr17:45253740-45254221	K562	blood:	n/a	n/a
6	POLR2A	chr17:45253800-45254175	GM12891	blood:	n/a	n/a
7	POLR2A	chr17:45253908-45254243	K562	blood:	n/a	n/a
8	POLR2A	chr17:45253767-45254112	HCT-116	colon:	n/a	n/a
9	TEAD4	chr17:45253642-45254280	K562	blood:	n/a	n/a
10	EP300	chr17:45253659-45254106	GM12878	blood:	n/a	n/a
11	TBP	chr17:45253675-45254151	K562	blood:	n/a	n/a
12	HEY1	chr17:45253754-45254460	K562	blood:	n/a	n/a
13	TBP	chr17:45253702-45254009	Hela-S3	cervix:	n/a	n/a
14	PML	chr17:45253643-45254319	K562	blood:	n/a	n/a
15	POLR2A	chr17:45253727-45254286	K562	blood:	n/a	n/a
16	GTF2B	chr17:45253736-45254135	K562	blood:	n/a	n/a
17	POLR2A	chr17:45253812-45254159	Hela-S3	cervix:	n/a	n/a
18	PML	chr17:45253591-45254423	K562	blood:	n/a	n/a
19	POLR2A	chr17:45253631-45254289	K562	blood:	n/a	n/a
20	BCLAF1	chr17:45253693-45254310	K562	blood:	n/a	n/a
21	POLR2A	chr17:45253712-45254325	K562	blood:	n/a	n/a
22	HEY1	chr17:45253818-45254249	K562	blood:	n/a	n/a
23	POLR2A	chr17:45253838-45254214	GM12891	blood:	n/a	n/a
24	TEAD4	chr17:45253629-45254205	K562	blood:	n/a	n/a
25	POLR2A	chr17:45253655-45254349	K562	blood:	n/a	n/a
26	CEBPD	chr17:45253760-45254315	K562	blood:	n/a	n/a
27	TAF7	chr17:45253730-45254241	K562	blood:	n/a	n/a
28	ZMIZ1	chr17:45253772-45254219	K562	blood:	n/a	n/a
29	EP300	chr17:45253897-45254222	K562	blood:	n/a	n/a
30	GTF2F1	chr17:45253720-45254106	K562	blood:	n/a	n/a
31	TBP	chr17:45253709-45254089	GM12878	blood:	n/a	n/a
32	POLR2A	chr17:45253795-45254170	PANC-1	pancreas:	n/a	n/a
33	TBL1XR1	chr17:45253887-45254375	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45252852..45255226-chr17:45287274..45289191,2	K562	blood:
2	chr17:45252680..45255681-chr17:45273167..45275450,3	K562	blood:
3	chr17:45252679..45255375-chr17:45295130..45298043,2	K562	blood:
4	chr17:45253169..45255870-chr17:45262068..45264746,2	MCF-7	breast:
5	chr17:45246078..45249140-chr17:45252023..45255438,3	K562	blood:

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000252088	Chromatin interaction
ENSG00000261872	Chromatin interaction
ENSG00000198336	Chromatin interaction
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11079759	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079761	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570487	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570506	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570520	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570529	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570543	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11570562	1.00[ASN][1000 genomes]
rs11570568	1.00[ASN][1000 genomes]
rs11570570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11869591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871824	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs12937083	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12937292	1.00[ASN][1000 genomes]
rs12939917	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12941464	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12947008	1.00[CEU][hapmap];1.00[CHB][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]
rs12947898	1.00[ASN][1000 genomes]
rs12948241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12950715	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515753	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941640	0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040602	1.00[ASN][1000 genomes]
rs2317378	1.00[ASN][1000 genomes]
rs34006043	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34735768	1.00[ASN][1000 genomes]
rs34885810	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35536045	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35751916	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59581991	1.00[ASN][1000 genomes]
rs66518624	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66976195	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67551364	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67777457	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71375393	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71375401	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823426	1.00[ASN][1000 genomes]
rs731790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs954344	1.00[CEU][hapmap];1.00[CHB][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]
rs954345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv3584	chr17:45246216-45265642	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3790	chr17:45247093-45261518	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3344584	chr17:45247298-45258989	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv6873	chr17:45247370-45266575	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3438623	chr17:45249255-45266618	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3437669	chr17:45249306-45259022	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv8330	chr17:45249307-45266621	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3314728	chr17:45249324-45258982	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3314730	chr17:45249324-45258982	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3431737	chr17:45249325-45259054	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3374428	chr17:45249343-45266580	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv3362151	chr17:45249372-45258977	ZNF genes & repeats Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3450592	chr17:45249392-45258947	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr17:45246800-45254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45247600-45255400	Strong transcription	HepG2	liver
3	chr17:45249400-45256200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:45249600-45254000	Weak transcription	Fetal Lung	lung
5	chr17:45249600-45254000	Weak transcription	HMEC	breast
6	chr17:45249600-45254400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:45249600-45254400	Weak transcription	Placenta	Placenta
8	chr17:45249600-45254600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:45249600-45254600	Weak transcription	Brain Anterior Caudate	brain
10	chr17:45249600-45254800	Weak transcription	Ovary	ovary
11	chr17:45249600-45255200	Weak transcription	Fetal Heart	heart
12	chr17:45249600-45255200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr17:45249600-45255400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr17:45249600-45255600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr17:45249600-45255600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr17:45249600-45256200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:45249600-45256200	Weak transcription	NHLF	lung
18	chr17:45249600-45256400	Weak transcription	Brain Angular Gyrus	brain
19	chr17:45249600-45256400	Weak transcription	Fetal Kidney	kidney
20	chr17:45249600-45256400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr17:45249600-45256400	Weak transcription	Spleen	Spleen
22	chr17:45249600-45256400	Weak transcription	HSMMtube	muscle
23	chr17:45249600-45256600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr17:45249600-45256600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr17:45249600-45256600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr17:45249600-45257400	Weak transcription	Lung	lung
27	chr17:45249600-45258400	Weak transcription	Left Ventricle	heart
28	chr17:45249600-45258400	Strong transcription	Dnd41	blood
29	chr17:45249600-45258800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr17:45249600-45258800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr17:45249600-45258800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr17:45249600-45258800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:45249600-45258800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr17:45249600-45258800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr17:45249600-45258800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr17:45249600-45258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:45249600-45258800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr17:45249600-45258800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:45249600-45258800	Weak transcription	Aorta	Aorta
40	chr17:45249600-45258800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr17:45249600-45258800	Weak transcription	Brain Hippocampus Middle	brain
42	chr17:45249600-45258800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr17:45249600-45258800	Weak transcription	Brain Substantia Nigra	brain
44	chr17:45249600-45258800	Weak transcription	Colonic Mucosa	Colon
45	chr17:45249600-45258800	Weak transcription	Esophagus	oesophagus
46	chr17:45249600-45258800	Weak transcription	Fetal Brain Male	brain
47	chr17:45249600-45258800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr17:45249600-45258800	Weak transcription	Gastric	stomach
49	chr17:45249600-45258800	Weak transcription	Pancreas	Pancrea
50	chr17:45249600-45258800	Weak transcription	Psoas Muscle	Psoas

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