Variant report

Variant	rs8072214
Chromosome Location	chr17:17109735-17109736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr17:17109605-17110028	Hela-S3	cervix:	n/a	chr17:17109897-17109904 chr17:17109896-17109905 chr17:17109929-17109939 chr17:17109895-17109905 chr17:17109930-17109939
2	PAX5	chr17:17109490-17110033	GM12891	blood:	n/a	n/a
3	SREBP1	chr17:17108667-17110125	HepG2	liver:	n/a	chr17:17108852-17108866
4	PBX3	chr17:17109642-17109893	GM12878	blood:	n/a	n/a
5	TCF12	chr17:17109594-17109789	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:17109259-17109825	Gliobla	brain:	n/a	n/a
7	MAX	chr17:17108766-17110300	A549	lung:	n/a	chr17:17110153-17110160 chr17:17109897-17109904 chr17:17110152-17110161 chr17:17110151-17110162 chr17:17110151-17110162 chr17:17110152-17110162 chr17:17109896-17109905 chr17:17110151-17110162 chr17:17109929-17109939 chr17:17110053-17110063 chr17:17109895-17109905 chr17:17110162-17110170 chr17:17109930-17109939 chr17:17110152-17110161 chr17:17109127-17109136
8	ZNF143	chr17:17109436-17109984	GM12878	blood:	n/a	n/a
9	HCFC1	chr17:17108273-17110391	Hela-S3	cervix:	n/a	n/a
10	SIN3A	chr17:17109431-17110125	GM12878	blood:	n/a	chr17:17109913-17109924
11	FOXM1	chr17:17109607-17109886	GM12878	blood:	n/a	n/a
12	MTA3	chr17:17107880-17110466	GM12878	blood:	n/a	n/a
13	USF1	chr17:17109434-17110234	GM12878	blood:	n/a	chr17:17109634-17109650
14	TAF1	chr17:17109326-17109944	SK-N-SH	brain:	n/a	n/a
15	BHLHE40	chr17:17109576-17109986	HepG2	liver:	n/a	chr17:17109634-17109650
16	FOS	chr17:17109479-17109961	MCF10A-Er-Src	breast:	n/a	n/a
17	KAP1	chr17:17109516-17109966	HEK293	kidney:	n/a	n/a
18	RCOR1	chr17:17109359-17109979	K562	blood:	n/a	n/a
19	USF1	chr17:17109570-17110051	A549	lung:	n/a	chr17:17109634-17109650
20	NFE2	chr17:17109630-17110008	GM12878	blood:	n/a	chr17:17109928-17109937 chr17:17109894-17109903
21	HEY1	chr17:17109422-17109804	HepG2	liver:	n/a	n/a
22	YY1	chr17:17109495-17109975	GM12891	blood:	n/a	chr17:17109633-17109644
23	MAX	chr17:17109448-17110098	SK-N-SH	brain:	n/a	chr17:17109897-17109904 chr17:17109896-17109905 chr17:17109929-17109939 chr17:17110053-17110063 chr17:17109895-17109905 chr17:17109930-17109939
24	RUNX3	chr17:17109117-17110111	GM12878	blood:	n/a	n/a
25	POLR2A	chr17:17109133-17110011	A549	lung:	n/a	n/a
26	MAX	chr17:17108596-17110606	HepG2	liver:	n/a	chr17:17110153-17110160 chr17:17109897-17109904 chr17:17110152-17110161 chr17:17110151-17110162 chr17:17110151-17110162 chr17:17110152-17110162 chr17:17109896-17109905 chr17:17110151-17110162 chr17:17109929-17109939 chr17:17110053-17110063 chr17:17109895-17109905 chr17:17110162-17110170 chr17:17109930-17109939 chr17:17110152-17110161 chr17:17109127-17109136
27	ELK1	chr17:17109616-17109848	Hela-S3	cervix:	n/a	n/a
28	TCF12	chr17:17108882-17110723	ECC-1	luminal epithelium:	n/a	n/a
29	BRCA1	chr17:17109569-17109866	HepG2	liver:	n/a	n/a
30	ATF2	chr17:17109595-17109833	GM12878	blood:	n/a	n/a
31	TAF1	chr17:17109401-17109852	PFSK-1	brain:	n/a	n/a
32	USF1	chr17:17109526-17110061	SK-N-SH_RA	brain:	n/a	chr17:17109634-17109650
33	TBL1XR1	chr17:17109472-17110123	GM12878	blood:	n/a	n/a
34	NFIC	chr17:17108577-17110552	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr17:17108557-17110416	MCF-7	breast:	n/a	chr17:17110153-17110160 chr17:17109897-17109904 chr17:17110152-17110161 chr17:17110151-17110162 chr17:17110151-17110162 chr17:17110152-17110162 chr17:17109896-17109905 chr17:17110151-17110162 chr17:17109929-17109939 chr17:17110053-17110063 chr17:17109895-17109905 chr17:17110162-17110170 chr17:17109930-17109939 chr17:17110152-17110161 chr17:17109127-17109136
36	MAX	chr17:17108723-17110089	HUVEC	blood vessel:	n/a	chr17:17109897-17109904 chr17:17109896-17109905 chr17:17109929-17109939 chr17:17110053-17110063 chr17:17109895-17109905 chr17:17109930-17109939 chr17:17109127-17109136
37	IRF1	chr17:17109515-17110343	K562	blood:	n/a	chr17:17110044-17110058 chr17:17109671-17109685 chr17:17110123-17110137
38	POLR2A	chr17:17108699-17110020	Hela-S3	cervix:	n/a	n/a
39	ELF1	chr17:17108496-17110425	GM12878	blood:	n/a	chr17:17108834-17108843
40	CREB1	chr17:17109322-17110296	A549	lung:	n/a	n/a
41	E2F4	chr17:17109381-17109929	MCF10A-Er-Src	breast:	n/a	chr17:17109648-17109657
42	USF1	chr17:17109264-17110452	ECC-1	luminal epithelium:	n/a	chr17:17109634-17109650
43	RCOR1	chr17:17108711-17109950	GM12878	blood:	n/a	n/a
44	POLR2A	chr17:17108599-17109830	GM18951	blood:	n/a	n/a
45	MYC	chr17:17109110-17110329	MCF-7	breast:	n/a	chr17:17110153-17110160 chr17:17109897-17109904 chr17:17110152-17110161 chr17:17110151-17110162 chr17:17110151-17110162 chr17:17110152-17110162 chr17:17109896-17109905 chr17:17110151-17110162 chr17:17109929-17109939 chr17:17110053-17110063 chr17:17109895-17109905 chr17:17110162-17110170 chr17:17109930-17109939 chr17:17110152-17110161 chr17:17109127-17109136
46	PAX5	chr17:17109319-17110176	GM12878	blood:	n/a	n/a
47	TBL1XR1	chr17:17109730-17109863	K562	blood:	n/a	n/a
48	POLR2A	chr17:17109364-17110025	HUVEC	blood vessel:	n/a	n/a
49	ATF3	chr17:17109543-17110013	HepG2	liver:	n/a	chr17:17109998-17110007 chr17:17109674-17109694
50	CEBPB	chr17:17109598-17109968	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17109691-17109741	HUVEC	blood vessel:	n/a
2	chr17:17109691-17109741	HPAEpiC	pulmonary alveolar:	n/a
3	chr17:17109691-17109741	GM12892	blood:	n/a
4	chr17:17109691-17109741	HAEpiC	amniotic membrane:	n/a
5	chr17:17109691-17109741	HCM	heart:	n/a
6	chr17:17109691-17109741	K562	blood:	n/a
7	chr17:17109691-17109741	HEK293	kidney:	embryo
8	chr17:17109691-17109741	SK-N-SH	brain:	n/a
9	chr17:17109691-17109741	A549	lung:	n/a
10	chr17:17109691-17109741	IMR90	lung:	fetal
11	chr17:17109691-17109741	MCF-7	breast:	n/a
12	chr17:17109691-17109741	GM12878	blood:	n/a
13	chr17:17109691-17109741	Hela-S3	cervix:	n/a
14	chr17:17109691-17109741	AG09319	gingival:	n/a
15	chr17:17109691-17109741	BJ	skin:	n/a
16	chr17:17109691-17109741	NHDF-neo	bronchial:	n/a
17	chr17:17109691-17109741	HEEpiC	esophagus:	n/a
18	chr17:17109691-17109741	HRCEpiC	kidney:	n/a
19	chr17:17109691-17109741	HepG2	liver:	n/a
20	chr17:17109691-17109741	ovcar-3	ovarian:	n/a
21	chr17:17109691-17109741	GM12891	blood:	n/a
22	chr17:17109691-17109741	AG09309	skin:	n/a
23	chr17:17109691-17109741	LNCaP	prostate:	n/a
24	chr17:17109691-17109741	ProgFib	skin:	n/a
25	chr17:17109691-17109741	HL-60	blood:	n/a
26	chr17:17109691-17109741	ECC-1	luminal epithelium:	n/a
27	chr17:17109691-17109741	Jurkat	blood:	n/a
28	chr17:17109691-17109741	AG04450	lung:	fetal
29	chr17:17109691-17109741	T-47D	breast:	n/a
30	chr17:17109691-17109741	HCT-116	colon:	n/a
31	chr17:17109691-17109741	HCF	heart:	n/a
32	chr17:17109691-17109741	HNPCEpiC	eye:	n/a
33	chr17:17109691-17109741	GM06990	blood:	n/a
34	chr17:17109691-17109741	SK-N-SH_RA	brain:	n/a
35	chr17:17109691-17109741	Caco-2	colon:	n/a
36	chr17:17109691-17109741	AoSMC	blood vessel:	n/a
37	chr17:17109691-17109741	GM19239	blood:	n/a
38	chr17:17109691-17109741	Hepatocyte	liver:	n/a
39	chr17:17109691-17109741	CMK	blood:	n/a
40	chr17:17109691-17109741	PrEC	prostate:	n/a
41	chr17:17109691-17109741	NT2-D1	testis:	n/a
42	chr17:17109691-17109741	SKMC	muscle:	n/a
43	chr17:17109691-17109741	U87	brain:	n/a
44	chr17:17109691-17109741	PANC-1	pancreas:	n/a
45	chr17:17109691-17109741	H1-hESC	embryonic stem cell:	embryo
46	chr17:17109691-17109741	AG10803	skin:	n/a
47	chr17:17109691-17109741	SK-N-MC	brain:	n/a
48	chr17:17109691-17109741	HMEC	breast:	n/a
49	chr17:17109691-17109741	HRE	kidney:	n/a
50	chr17:17109691-17109741	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr17:17107449..17110459-chr17:17138885..17140924,4	K562	blood:
2	chr17:17107445..17110008-chr17:17138195..17140495,3	K562	blood:
3	chr17:17109423..17111075-chr17:17206335..17209184,2	K562	blood:
4	chr17:17075571..17077759-chr17:17108274..17110785,3	MCF-7	breast:
5	chr17:17109583..17111343-chr17:17139423..17141092,2	MCF-7	breast:
6	chr17:16944536..16947207-chr17:17109103..17111480,2	MCF-7	breast:
7	chr17:17089234..17090798-chr17:17108550..17111029,2	MCF-7	breast:
8	chr17:17107449..17109941-chr17:17138935..17142587,4	MCF-7	breast:
9	chr17:16890452..16892957-chr17:17108135..17110227,2	MCF-7	breast:
10	chr17:17043821..17046160-chr17:17108071..17109890,2	MCF-7	breast:
11	chr17:17109460..17111792-chr17:17182647..17184300,2	K562	blood:
12	chr17:17108079..17111792-chr17:17180254..17184300,4	K562	blood:

Variant related genes	Relation type
PLD6	TF binding region
PLD6	CpG island
ENSG00000266498	Chromatin interaction
ENSG00000205309	Chromatin interaction
ENSG00000141030	Chromatin interaction
ENSG00000133030	Chromatin interaction
ENSG00000154803	Chromatin interaction
ENSG00000264187	Chromatin interaction
ENSG00000230969	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12601193	0.87[EUR][1000 genomes]
rs12601424	0.87[EUR][1000 genomes]
rs12601453	0.87[EUR][1000 genomes]
rs12602196	0.87[EUR][1000 genomes]
rs12602675	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16961340	0.87[EUR][1000 genomes]
rs16961396	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2271521	0.87[EUR][1000 genomes]
rs2292528	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3744126	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3744135	0.87[EUR][1000 genomes]
rs3803762	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3826304	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4078534	0.87[EUR][1000 genomes]
rs41319048	0.87[EUR][1000 genomes]
rs8069241	0.87[EUR][1000 genomes]
rs8076621	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3324366	chr17:17107227-17112025	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17104200-17110400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:17104400-17114000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:17104800-17114000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:17105000-17116200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:17106400-17110400	Enhancers	Fetal Brain Male	brain
6	chr17:17107200-17110000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr17:17107600-17110000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr17:17107600-17110000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr17:17107600-17110000	Flanking Active TSS	Dnd41	blood
10	chr17:17107600-17110400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr17:17108000-17109800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr17:17108000-17109800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:17108000-17110200	Flanking Active TSS	Colonic Mucosa	Colon
14	chr17:17108000-17110200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr17:17108200-17109800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr17:17108200-17109800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:17108200-17109800	Flanking Active TSS	Fetal Brain Female	brain
18	chr17:17108200-17109800	Flanking Active TSS	NH-A	brain
19	chr17:17108200-17110000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:17108200-17110000	Flanking Active TSS	Liver	Liver
21	chr17:17108200-17110000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr17:17108200-17110400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr17:17108200-17110600	Flanking Active TSS	Pancreas	Pancrea
24	chr17:17108200-17110600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr17:17108400-17109800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:17108400-17110000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:17108400-17110000	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr17:17108400-17110200	Flanking Active TSS	HMEC	breast
29	chr17:17108600-17109800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr17:17108600-17109800	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr17:17108600-17109800	Flanking Active TSS	Lung	lung
32	chr17:17108600-17109800	Active TSS	Ovary	ovary
33	chr17:17108600-17109800	Active TSS	Rectal Smooth Muscle	rectum
34	chr17:17108600-17109800	Flanking Active TSS	Right Ventricle	heart
35	chr17:17108600-17109800	Flanking Active TSS	Thymus	Thymus
36	chr17:17108600-17109800	Flanking Active TSS	Spleen	Spleen
37	chr17:17108600-17109800	Active TSS	Hela-S3	cervix
38	chr17:17108600-17109800	Active TSS	NHDF-Ad	bronchial
39	chr17:17108600-17110000	Active TSS	Colon Smooth Muscle	Colon
40	chr17:17108600-17110400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr17:17108800-17109800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr17:17108800-17109800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:17108800-17109800	Flanking Active TSS	Gastric	stomach
44	chr17:17108800-17110000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr17:17108800-17110000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr17:17108800-17110000	Flanking Active TSS	Esophagus	oesophagus
47	chr17:17108800-17110000	Active TSS	K562	blood
48	chr17:17109000-17110000	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr17:17109000-17110600	Flanking Active TSS	HepG2	liver
50	chr17:17109000-17110600	Flanking Active TSS	Osteobl	bone

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