Variant report

Variant	rs758426
Chromosome Location	chr17:19620624-19620625
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr17:19620593-19621394	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr17:19619479-19621400	ECC-1	luminal epithelium:	n/a	chr17:19619595-19619605
3	TCF12	chr17:19619472-19621437	ECC-1	luminal epithelium:	n/a	chr17:19619595-19619605
4	EP300	chr17:19620568-19621505	ECC-1	luminal epithelium:	n/a	chr17:19621299-19621308
5	TEAD4	chr17:19620575-19621589	ECC-1	luminal epithelium:	n/a	chr17:19621166-19621175

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:19620595-19620645	K562	blood:	n/a
2	chr17:19620595-19620645	Hepatocyte	liver:	n/a
3	chr17:19620595-19620645	HEEpiC	esophagus:	n/a
4	chr17:19620595-19620645	NT2-D1	testis:	n/a
5	chr17:19620595-19620645	PFSK-1	brain:	n/a
6	chr17:19620595-19620645	T-47D	breast:	n/a
7	chr17:19620595-19620645	HCPEpiC	choroid plexus:	n/a
8	chr17:19620595-19620645	HUVEC	blood vessel:	n/a
9	chr17:19620595-19620645	SK-N-MC	brain:	n/a
10	chr17:19620595-19620645	GM12891	blood:	n/a
11	chr17:19620595-19620645	HCT-116	colon:	n/a
12	chr17:19620595-19620645	ECC-1	luminal epithelium:	n/a
13	chr17:19620595-19620645	Jurkat	blood:	n/a
14	chr17:19620595-19620645	HCF	heart:	n/a
15	chr17:19620595-19620645	MCF-7	breast:	n/a
16	chr17:19620595-19620645	NHBE	bronchial:	n/a
17	chr17:19620595-19620645	HAEpiC	amniotic membrane:	n/a
18	chr17:19620595-19620645	GM06990	blood:	n/a
19	chr17:19620595-19620645	ProgFib	skin:	n/a
20	chr17:19620595-19620645	BJ	skin:	n/a
21	chr17:19620595-19620645	BE2_C	brain:	n/a
22	chr17:19620595-19620645	AoSMC	blood vessel:	n/a
23	chr17:19620595-19620645	ovcar-3	ovarian:	n/a
24	chr17:19620595-19620645	HPAEpiC	pulmonary alveolar:	n/a
25	chr17:19620595-19620645	SK-N-SH_RA	brain:	n/a
26	chr17:19620595-19620645	H1-hESC	embryonic stem cell:	embryo
27	chr17:19620595-19620645	PrEC	prostate:	n/a
28	chr17:19620595-19620645	CMK	blood:	n/a
29	chr17:19620595-19620645	U87	brain:	n/a
30	chr17:19620595-19620645	HCM	heart:	n/a
31	chr17:19620595-19620645	HIPEpiC	eye:	n/a
32	chr17:19620595-19620645	NH-A	brain:	n/a
33	chr17:19620595-19620645	AG04449	skin:	fetal
34	chr17:19620595-19620645	SKMC	muscle:	n/a
35	chr17:19620595-19620645	AG09319	gingival:	n/a
36	chr17:19620595-19620645	HEK293	kidney:	embryo
37	chr17:19620595-19620645	HL-60	blood:	n/a
38	chr17:19620595-19620645	NHDF-neo	bronchial:	n/a
39	chr17:19620595-19620645	HRCEpiC	kidney:	n/a
40	chr17:19620595-19620645	GM12892	blood:	n/a
41	chr17:19620595-19620645	HNPCEpiC	eye:	n/a
42	chr17:19620595-19620645	Hela-S3	cervix:	n/a
43	chr17:19620595-19620645	PANC-1	pancreas:	n/a
44	chr17:19620595-19620645	MCF10A-Er-Src	breast:	n/a
45	chr17:19620595-19620645	Caco-2	colon:	n/a
46	chr17:19620595-19620645	LNCaP	prostate:	n/a
47	chr17:19620595-19620645	HRE	kidney:	n/a
48	chr17:19620595-19620645	SAEC	small airway:	n/a
49	chr17:19620595-19620645	AG09309	skin:	n/a
50	chr17:19620595-19620645	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19616686..19619985-chr17:19620299..19623719,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALDH3A1-1	chr17:19619037-19622150	NONHSAT146520

No data

Variant related genes	Relation type
SLC47A2	TF binding region
ENSG00000262681	TF binding region
SLC47A2	CpG island
ENSG00000262681	CpG island
ENSG00000180638	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1006556	0.82[ASN][1000 genomes]
rs12451902	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12943590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960360	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35263947	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4924792	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4925045	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758427	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9897570	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9900497	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv1807724	chr17:19597423-19656009	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv1793043	chr17:19604821-19670329	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv526290	chr17:19613357-19651482	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv457704	chr17:19620477-19663747	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv470582	chr17:19620477-19663747	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv574580	chr17:19620477-19663747	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19607600-19627400	Weak transcription	Right Atrium	heart
2	chr17:19616200-19621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:19617600-19635400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr17:19618200-19623200	Weak transcription	Pancreas	Pancrea
5	chr17:19619400-19620800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr17:19619400-19622200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:19619400-19622200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:19619400-19622400	Enhancers	A549	lung
9	chr17:19619400-19622800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr17:19619400-19624800	Enhancers	Esophagus	oesophagus
11	chr17:19619400-19625000	Enhancers	Fetal Muscle Leg	muscle
12	chr17:19619600-19621600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr17:19619600-19621800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:19619600-19622200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:19619600-19622200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr17:19619600-19625000	Enhancers	HMEC	breast
17	chr17:19619800-19622000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:19619800-19622000	Enhancers	NHEK	skin
19	chr17:19619800-19627800	Enhancers	Fetal Intestine Large	intestine
20	chr17:19620000-19621200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr17:19620000-19624800	Enhancers	HSMMtube	muscle
22	chr17:19620000-19628000	Enhancers	Fetal Intestine Small	intestine
23	chr17:19620200-19621200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:19620200-19621400	Bivalent Enhancer	HepG2	liver
25	chr17:19620200-19624800	Enhancers	Stomach Mucosa	stomach
26	chr17:19620400-19623800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:19620400-19625000	Enhancers	Colonic Mucosa	Colon
28	chr17:19620600-19620800	Enhancers	Small Intestine	intestine
29	chr17:19620600-19621600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:19620600-19622000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:19620600-19622600	Enhancers	Gastric	stomach
32	chr17:19620600-19622600	Weak transcription	Spleen	Spleen
33	chr17:19620600-19623200	Enhancers	Duodenum Mucosa	Duodenum
34	chr17:19620600-19627400	Weak transcription	Brain Anterior Caudate	brain

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