Variant report

Variant	rs70965428
Chromosome Location	chr17:17409032-17409033
allele	G/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:4)
LncRNA
region (count:0)
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	CTCF	chr17:17408920-17409070	HepG2	liver:	n/a	n/a
2	CTCF	chr17:17408940-17409090	HBMEC	blood vessel:	n/a	n/a
3	CTCF	chr17:17408960-17409110	NB4	blood:	n/a	n/a
4	RAD21	chr17:17408837-17409241	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr17:17408960-17409110	WERI-Rb-1	eye:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17409003-17409053	HCT-116	colon:	n/a
2	chr17:17409003-17409053	HEEpiC	esophagus:	n/a
3	chr17:17409003-17409053	HCF	heart:	n/a
4	chr17:17409003-17409053	HRCEpiC	kidney:	n/a
5	chr17:17409003-17409053	GM12892	blood:	n/a
6	chr17:17409003-17409053	AG10803	skin:	n/a
7	chr17:17409003-17409053	NB4	blood:	n/a
8	chr17:17409003-17409053	SK-N-SH_RA	brain:	n/a
9	chr17:17409003-17409053	ProgFib	skin:	n/a
10	chr17:17409003-17409053	MCF10A-Er-Src	breast:	n/a
11	chr17:17409003-17409053	PANC-1	pancreas:	n/a
12	chr17:17409003-17409053	HRE	kidney:	n/a
13	chr17:17409003-17409053	HEK293	kidney:	embryo
14	chr17:17409003-17409053	PFSK-1	brain:	n/a
15	chr17:17409003-17409053	ECC-1	luminal epithelium:	n/a
16	chr17:17409003-17409053	H1-hESC	embryonic stem cell:	embryo
17	chr17:17409003-17409053	AG04449	skin:	fetal
18	chr17:17409003-17409053	HepG2	liver:	n/a
19	chr17:17409003-17409053	K562	blood:	n/a
20	chr17:17409003-17409053	SK-N-MC	brain:	n/a
21	chr17:17409003-17409053	U87	brain:	n/a
22	chr17:17409003-17409053	NT2-D1	testis:	n/a
23	chr17:17409003-17409053	T-47D	breast:	n/a
24	chr17:17409003-17409053	HUVEC	blood vessel:	n/a
25	chr17:17409003-17409053	RPTEC	kidney:	n/a
26	chr17:17409003-17409053	HAEpiC	amniotic membrane:	n/a
27	chr17:17409003-17409053	GM19239	blood:	n/a
28	chr17:17409003-17409053	BE2_C	brain:	n/a
29	chr17:17409003-17409053	PrEC	prostate:	n/a
30	chr17:17409003-17409053	Jurkat	blood:	n/a
31	chr17:17409003-17409053	SK-N-SH	brain:	n/a
32	chr17:17409003-17409053	HPAEpiC	pulmonary alveolar:	n/a
33	chr17:17409003-17409053	NHDF-neo	bronchial:	n/a
34	chr17:17409003-17409053	AoSMC	blood vessel:	n/a
35	chr17:17409003-17409053	GM06990	blood:	n/a
36	chr17:17409003-17409053	CMK	blood:	n/a
37	chr17:17409003-17409053	Caco-2	colon:	n/a
38	chr17:17409003-17409053	HCM	heart:	n/a
39	chr17:17409003-17409053	Hela-S3	cervix:	n/a
40	chr17:17409003-17409053	GM12891	blood:	n/a
41	chr17:17409003-17409053	BJ	skin:	n/a
42	chr17:17409003-17409053	NHBE	bronchial:	n/a
43	chr17:17409003-17409053	AG09319	gingival:	n/a
44	chr17:17409003-17409053	HL-60	blood:	n/a
45	chr17:17409003-17409053	AG09309	skin:	n/a
46	chr17:17409003-17409053	ovcar-3	ovarian:	n/a
47	chr17:17409003-17409053	LNCaP	prostate:	n/a
48	chr17:17409003-17409053	HCPEpiC	choroid plexus:	n/a
49	chr17:17409003-17409053	HNPCEpiC	eye:	n/a
50	chr17:17409003-17409053	Hepatocyte	liver:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17403140..17409448-chr17:17410177..17415726,8	K562	blood:
2	chr17:17404753..17406377-chr17:17407243..17409547,3	K562	blood:
3	chr17:17402735..17405355-chr17:17407250..17409232,2	K562	blood:
4	chr17:17396995..17404908-chr17:17406815..17414609,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265511	TF binding region
ENSG00000265511	CpG island
ENSG00000265511	Chromatin interaction
ENSG00000133027	Chromatin interaction
ENSG00000108551	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs70965426	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv907732	chr17:17381764-17415217	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv907733	chr17:17381764-17422608	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv907734	chr17:17381764-17425858	Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv907737	chr17:17388167-17411030	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv907738	chr17:17404586-17422608	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv907739	chr17:17404586-17424333	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv907740	chr17:17404586-17425858	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv907741	chr17:17404586-17429927	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv907742	chr17:17404586-17432744	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv907743	chr17:17404586-17448589	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
18	nsv574524	chr17:17408484-17414594	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
19	esv1803680	chr17:17408484-17426009	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17399600-17413800	Weak transcription	Dnd41	blood
2	chr17:17400600-17409800	Weak transcription	Esophagus	oesophagus
3	chr17:17400600-17410000	Weak transcription	Liver	Liver
4	chr17:17400600-17415200	Weak transcription	Ovary	ovary
5	chr17:17400600-17422000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr17:17400800-17413000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr17:17400800-17419200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr17:17401000-17411200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:17401000-17418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr17:17401000-17425400	Weak transcription	Thymus	Thymus
11	chr17:17401200-17411000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr17:17401200-17415200	Weak transcription	Gastric	stomach
13	chr17:17401600-17409200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr17:17405600-17412000	Enhancers	Fetal Muscle Trunk	muscle
15	chr17:17405800-17413200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:17406200-17415800	Enhancers	Fetal Heart	heart
17	chr17:17406600-17414600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:17406800-17410600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:17407400-17409200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:17407400-17409600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr17:17407400-17409800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:17407400-17409800	Weak transcription	Right Atrium	heart
23	chr17:17407400-17425400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr17:17407800-17409200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:17407800-17418400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr17:17407800-17422600	Weak transcription	Brain Germinal Matrix	brain
27	chr17:17408000-17409600	Weak transcription	Brain Hippocampus Middle	brain
28	chr17:17408000-17409600	Strong transcription	Fetal Stomach	stomach
29	chr17:17408000-17410000	Weak transcription	Brain Anterior Caudate	brain
30	chr17:17408000-17410200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr17:17408000-17411200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:17408000-17418200	Weak transcription	Fetal Brain Female	brain
33	chr17:17408000-17418400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr17:17408200-17409400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:17408200-17409400	Strong transcription	Fetal Intestine Small	intestine
36	chr17:17408200-17419200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr17:17408400-17409200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:17408400-17409600	Weak transcription	Brain Angular Gyrus	brain
39	chr17:17408400-17409800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr17:17408400-17410000	Weak transcription	Fetal Brain Male	brain
41	chr17:17408400-17417600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr17:17408800-17409400	Genic enhancers	Fetal Muscle Leg	muscle
43	chr17:17408800-17414400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:17409000-17409600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr17:17409000-17410600	Enhancers	Right Ventricle	heart
46	chr17:17409000-17411400	Enhancers	Lung	lung

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