Variant report

Variant	rs7730317
Chromosome Location	chr5:75012317-75012318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr5:75011941-75012389	MCF10A-Er-Src	breast:	n/a	n/a
2	GABPA	chr5:75012313-75013787	MCF-7	breast:	n/a	chr5:75013464-75013478 chr5:75013337-75013346 chr5:75013389-75013398 chr5:75013417-75013426
3	FOXA2	chr5:75012268-75012445	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:75012276-75013749	GM12891	blood:	n/a	n/a
5	HCFC1	chr5:75012250-75013794	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:75012259-75013748	K562	blood:	n/a	n/a
7	FOXA1	chr5:75012204-75012496	HepG2	liver:	n/a	chr5:75012352-75012367
8	MXI1	chr5:75011447-75013923	SK-N-SH	brain:	n/a	n/a
9	MXI1	chr5:75012248-75013828	IMR90	lung:	n/a	n/a
10	FOXA1	chr5:75012188-75012476	HepG2	liver:	n/a	chr5:75012352-75012367
11	FOXA1	chr5:75012216-75012455	T-47D	breast:	n/a	chr5:75012352-75012367
12	FOXA1	chr5:75012220-75012545	HepG2	liver:	n/a	chr5:75012352-75012367
13	FOXA1	chr5:75012249-75012525	T-47D	breast:	n/a	chr5:75012352-75012367

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:75012313-75012363	HNPCEpiC	eye:	n/a
2	chr5:75012313-75012363	Jurkat	blood:	n/a
3	chr5:75012313-75012363	HCT-116	colon:	n/a
4	chr5:75012313-75012363	AG10803	skin:	n/a
5	chr5:75012313-75012363	LNCaP	prostate:	n/a
6	chr5:75012313-75012363	SAEC	small airway:	n/a
7	chr5:75012313-75012363	U87	brain:	n/a
8	chr5:75012313-75012363	HEEpiC	esophagus:	n/a
9	chr5:75012313-75012363	SK-N-MC	brain:	n/a
10	chr5:75012313-75012363	HRCEpiC	kidney:	n/a
11	chr5:75012313-75012363	AoSMC	blood vessel:	n/a
12	chr5:75012313-75012363	HL-60	blood:	n/a
13	chr5:75012313-75012363	PFSK-1	brain:	n/a
14	chr5:75012313-75012363	BJ	skin:	n/a
15	chr5:75012313-75012363	HRE	kidney:	n/a
16	chr5:75012313-75012363	HRPEpiC	eye:	n/a
17	chr5:75012313-75012363	HCPEpiC	choroid plexus:	n/a
18	chr5:75012313-75012363	RPTEC	kidney:	n/a
19	chr5:75012313-75012363	AG04450	lung:	fetal
20	chr5:75012313-75012363	SK-N-SH_RA	brain:	n/a
21	chr5:75012313-75012363	GM12892	blood:	n/a
22	chr5:75012313-75012363	PrEC	prostate:	n/a
23	chr5:75012313-75012363	ovcar-3	ovarian:	n/a
24	chr5:75012313-75012363	ProgFib	skin:	n/a
25	chr5:75012313-75012363	HUVEC	blood vessel:	n/a
26	chr5:75012313-75012363	HCM	heart:	n/a
27	chr5:75012313-75012363	HAEpiC	amniotic membrane:	n/a
28	chr5:75012313-75012363	IMR90	lung:	fetal
29	chr5:75012313-75012363	NH-A	brain:	n/a
30	chr5:75012313-75012363	ECC-1	luminal epithelium:	n/a
31	chr5:75012313-75012363	GM06990	blood:	n/a
32	chr5:75012313-75012363	Caco-2	colon:	n/a
33	chr5:75012313-75012363	K562	blood:	n/a
34	chr5:75012313-75012363	MCF10A-Er-Src	breast:	n/a
35	chr5:75012313-75012363	NT2-D1	testis:	n/a
36	chr5:75012313-75012363	AG09319	gingival:	n/a
37	chr5:75012313-75012363	PANC-1	pancreas:	n/a
38	chr5:75012313-75012363	T-47D	breast:	n/a
39	chr5:75012313-75012363	GM12891	blood:	n/a
40	chr5:75012313-75012363	Hela-S3	cervix:	n/a
41	chr5:75012313-75012363	MCF-7	breast:	n/a
42	chr5:75012313-75012363	GM19239	blood:	n/a
43	chr5:75012313-75012363	AG04449	skin:	fetal
44	chr5:75012313-75012363	CMK	blood:	n/a
45	chr5:75012313-75012363	HPAEpiC	pulmonary alveolar:	n/a
46	chr5:75012313-75012363	NB4	blood:	n/a
47	chr5:75012313-75012363	H1-hESC	embryonic stem cell:	embryo
48	chr5:75012313-75012363	GM12878	blood:	n/a
49	chr5:75012313-75012363	NHBE	bronchial:	n/a
50	chr5:75012313-75012363	HEK293	kidney:	embryo

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:56734668..56737862-chr5:75011935..75014519,3	MCF-7	breast:
2	chr5:75001250..75005615-chr5:75010572..75014500,9	K562	blood:
3	chr5:75004216..75010579-chr5:75011703..75014378,6	MCF-7	breast:
4	chr5:74991379..74992986-chr5:75011800..75013427,2	K562	blood:
5	chr5:75010275..75012442-chr5:75036890..75039813,2	K562	blood:
6	chr5:74981038..74984120-chr5:75011699..75013859,3	K562	blood:
7	chr5:75006833..75009692-chr5:75010741..75014580,11	K562	blood:

No data

Variant related genes	Relation type
POC5	TF binding region
POC5	CpG island
ENSG00000207333	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000152359	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10038319	0.89[EUR][1000 genomes]
rs10066858	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes]
rs10474445	0.90[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12234025	1.00[ASW][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16872760	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs17672542	1.00[ASW][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];0.86[MEX][hapmap];0.85[MKK][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1862219	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs1862220	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2193991	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes]
rs2216572	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs2303647	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs3815894	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56676015	0.89[EUR][1000 genomes]
rs6453140	0.84[EUR][1000 genomes]
rs976013	1.00[ASW][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74965400-75012400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:74965400-75012400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:74965400-75012400	Weak transcription	Right Ventricle	heart
4	chr5:74971200-75012400	Weak transcription	Aorta	Aorta
5	chr5:74971200-75012400	Weak transcription	Brain Substantia Nigra	brain
6	chr5:74984200-75012400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:74990000-75012400	Weak transcription	Esophagus	oesophagus
8	chr5:74992000-75012400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:74992600-75012600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:74996800-75012400	Weak transcription	Fetal Brain Male	brain
11	chr5:74998200-75012400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:74999000-75012400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:74999000-75012400	Weak transcription	Colonic Mucosa	Colon
14	chr5:74999800-75012400	Weak transcription	Right Atrium	heart
15	chr5:75000800-75012400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:75001000-75012400	Weak transcription	Brain Angular Gyrus	brain
17	chr5:75003000-75012400	Weak transcription	Pancreas	Pancrea
18	chr5:75006400-75012400	Weak transcription	Psoas Muscle	Psoas
19	chr5:75006600-75012400	Weak transcription	Left Ventricle	heart
20	chr5:75006800-75012400	Weak transcription	Adipose Nuclei	Adipose
21	chr5:75006800-75012400	Weak transcription	Ovary	ovary
22	chr5:75006800-75012400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:75007200-75012400	Weak transcription	Fetal Intestine Large	intestine
24	chr5:75007200-75012400	Weak transcription	Placenta	Placenta
25	chr5:75009200-75012400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:75010000-75012400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:75010600-75012600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:75010800-75012600	Weak transcription	Gastric	stomach
29	chr5:75010800-75012600	Weak transcription	Lung	lung
30	chr5:75011000-75012600	Weak transcription	Spleen	Spleen
31	chr5:75011200-75012400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr5:75011400-75012400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr5:75011400-75012400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:75011400-75012400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr5:75011400-75012400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:75011400-75012400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr5:75011400-75012400	Enhancers	Fetal Heart	heart
38	chr5:75011400-75012600	Flanking Active TSS	Dnd41	blood
39	chr5:75011600-75012400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr5:75011600-75012400	Enhancers	Primary B cells from peripheral blood	blood
41	chr5:75011600-75012400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr5:75011600-75012400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:75011600-75012400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr5:75011600-75012400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:75011600-75012400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:75011600-75012400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr5:75011600-75012400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr5:75011600-75012600	Flanking Active TSS	Hela-S3	cervix
49	chr5:75011600-75012800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:75011800-75012400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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