Variant report

Variant	rs8071346
Chromosome Location	chr17:20756218-20756219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:20756123-20756250	GM19239	blood:	n/a	n/a
2	CTCF	chr17:20756094-20756298	GM12891	blood:	n/a	n/a
3	CTCF	chr17:20756094-20756259	NHEK	skin:	n/a	n/a
4	CTCF	chr17:20756180-20756330	GM06990	blood:	n/a	n/a
5	POLR2A	chr17:20755889-20756949	K562	blood:	n/a	n/a
6	POLR2A	chr17:20756096-20756298	Gliobla	brain:	n/a	n/a
7	RAD21	chr17:20755993-20756242	SK-N-SH_RA	brain:	n/a	n/a
8	POLR2A	chr17:20755741-20756446	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr17:20755719-20756582	HepG2	liver:	n/a	n/a
10	CTCF	chr17:20756002-20756317	MCF-7	breast:	n/a	n/a
11	CTCF	chr17:20756077-20756263	Medullo	brain:	n/a	n/a
12	CTCF	chr17:20756151-20756232	GM13977	blood:	n/a	n/a
13	UBTF	chr17:20755891-20756269	K562	blood:	n/a	n/a
14	TBP	chr17:20755811-20756256	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr17:20756010-20756308	A549	lung:	n/a	n/a
16	CTCF	chr17:20756010-20756315	MCF-7	breast:	n/a	n/a
17	CTCF	chr17:20756100-20756261	ProgFib	skin:	n/a	n/a
18	POLR2A	chr17:20755819-20756335	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr17:20755901-20756230	MCF-7	breast:	n/a	n/a
20	ZNF263	chr17:20754968-20756339	HEK293-T-REx	kidney:	n/a	chr17:20755738-20755747 chr17:20755560-20755569 chr17:20755561-20755582
21	CTCF	chr17:20755953-20756232	Fibrobl	skin:	n/a	n/a
22	TAF1	chr17:20755939-20756243	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr17:20756119-20756249	GM19240	blood:	n/a	n/a
24	POLR2A	chr17:20755794-20756250	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr17:20755999-20756311	MCF-7	breast:	n/a	n/a
26	SIN3A	chr17:20755765-20756320	H1-hESC	embryonic stem cell:	n/a	n/a
27	KAP1	chr17:20755863-20756223	HEK293	kidney:	n/a	n/a
28	MYC	chr17:20756012-20756261	MCF-7	breast:	n/a	n/a
29	CTCF	chr17:20756080-20756230	SAEC	small airway:	n/a	n/a
30	CTCF	chr17:20756100-20756250	MCF-7	breast:	n/a	n/a
31	CTCF	chr17:20756044-20756300	MCF-7	breast:	n/a	n/a
32	POLR2A	chr17:20755901-20756250	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr17:20756129-20756237	GM12892	blood:	n/a	n/a
34	CTCF	chr17:20756080-20756230	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr17:20756080-20756230	HEK293	kidney:	n/a	n/a
36	TAF1	chr17:20755700-20756341	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr17:20755977-20756312	A549	lung:	n/a	n/a
38	CTCF	chr17:20756048-20756313	Gliobla	brain:	n/a	n/a
39	CTCF	chr17:20756080-20756230	MCF-7	breast:	n/a	n/a
40	CTCF	chr17:20755975-20756309	MCF-7	breast:	n/a	n/a
41	CTCF	chr17:20756140-20756290	HRPEpiC	eye:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20756214-20756264	GM06990	blood:	n/a
2	chr17:20756214-20756264	HAEpiC	amniotic membrane:	n/a
3	chr17:20756214-20756264	NHDF-neo	bronchial:	n/a
4	chr17:20756214-20756264	MCF-7	breast:	n/a
5	chr17:20756214-20756264	IMR90	lung:	fetal
6	chr17:20756214-20756264	HEK293	kidney:	embryo
7	chr17:20756214-20756264	SKMC	muscle:	n/a
8	chr17:20756214-20756264	RPTEC	kidney:	n/a
9	chr17:20756214-20756264	H1-hESC	embryonic stem cell:	embryo
10	chr17:20756214-20756264	Caco-2	colon:	n/a
11	chr17:20756214-20756264	PANC-1	pancreas:	n/a
12	chr17:20756214-20756264	GM19239	blood:	n/a
13	chr17:20756214-20756264	HCPEpiC	choroid plexus:	n/a
14	chr17:20756214-20756264	NT2-D1	testis:	n/a
15	chr17:20756214-20756264	HUVEC	blood vessel:	n/a
16	chr17:20756214-20756264	GM12891	blood:	n/a
17	chr17:20756214-20756264	HRCEpiC	kidney:	n/a
18	chr17:20756214-20756264	T-47D	breast:	n/a
19	chr17:20756214-20756264	ovcar-3	ovarian:	n/a
20	chr17:20756214-20756264	HPAEpiC	pulmonary alveolar:	n/a
21	chr17:20756214-20756264	K562	blood:	n/a
22	chr17:20756214-20756264	ECC-1	luminal epithelium:	n/a
23	chr17:20756214-20756264	BJ	skin:	n/a
24	chr17:20756214-20756264	U87	brain:	n/a
25	chr17:20756214-20756264	AG09309	skin:	n/a
26	chr17:20756214-20756264	AG09319	gingival:	n/a
27	chr17:20756214-20756264	A549	lung:	n/a
28	chr17:20756214-20756264	AG10803	skin:	n/a
29	chr17:20756214-20756264	HL-60	blood:	n/a
30	chr17:20756214-20756264	AG04450	lung:	fetal
31	chr17:20756214-20756264	SK-N-SH	brain:	n/a
32	chr17:20756214-20756264	HepG2	liver:	n/a
33	chr17:20756214-20756264	HRPEpiC	eye:	n/a
34	chr17:20756214-20756264	ProgFib	skin:	n/a
35	chr17:20756214-20756264	Jurkat	blood:	n/a
36	chr17:20756214-20756264	PrEC	prostate:	n/a
37	chr17:20756214-20756264	HEEpiC	esophagus:	n/a
38	chr17:20756214-20756264	PFSK-1	brain:	n/a
39	chr17:20756214-20756264	AoSMC	blood vessel:	n/a
40	chr17:20756214-20756264	Hela-S3	cervix:	n/a
41	chr17:20756214-20756264	SK-N-SH_RA	brain:	n/a
42	chr17:20756214-20756264	HCF	heart:	n/a
43	chr17:20756214-20756264	HCT-116	colon:	n/a
44	chr17:20756214-20756264	BE2_C	brain:	n/a
45	chr17:20756214-20756264	CMK	blood:	n/a
46	chr17:20756214-20756264	AG04449	skin:	fetal
47	chr17:20756214-20756264	NH-A	brain:	n/a
48	chr17:20756214-20756264	MCF10A-Er-Src	breast:	n/a
49	chr17:20756214-20756264	Hepatocyte	liver:	n/a
50	chr17:20756214-20756264	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
ENSG00000266369	TF binding region
ENSG00000266369	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11654643	0.83[CEU][hapmap]
rs11869464	0.83[CEU][hapmap]
rs17841430	0.88[CEU][hapmap]
rs4264447	0.83[CEU][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6587094	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7502637	0.91[EUR][1000 genomes]
rs7502919	0.82[CEU][hapmap]

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	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv3361931	chr17:20539962-20845258	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv3330516	chr17:20572433-20862663	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
5	nsv1066490	chr17:20732646-20786993	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv960439	chr17:20733458-20799926	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1057238	chr17:20734623-20786993	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv1057410	chr17:20736492-20782474	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1064007	chr17:20736492-20785902	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv1065163	chr17:20736890-20778317	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv1067482	chr17:20737431-20782474	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20754800-20756400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr17:20754800-20756600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr17:20754800-20756600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
4	chr17:20754800-20756800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr17:20755000-20756400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr17:20755000-20756400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr17:20755000-20756600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr17:20755200-20756400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:20755200-20756400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:20755200-20756400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr17:20755200-20756400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:20755200-20756400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:20755200-20756400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:20755200-20756400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:20755200-20756400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
16	chr17:20755200-20756400	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr17:20755200-20756400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
18	chr17:20755200-20756400	Bivalent/Poised TSS	Fetal Kidney	kidney
19	chr17:20755200-20756400	Enhancers	Spleen	Spleen
20	chr17:20755200-20756400	Bivalent/Poised TSS	Osteobl	bone
21	chr17:20755200-20756600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:20755200-20756600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr17:20755200-20756600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:20755200-20756600	Active TSS	Colon Smooth Muscle	Colon
25	chr17:20755200-20756800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:20755400-20756400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:20755400-20756400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr17:20755400-20756400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
29	chr17:20755400-20756400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr17:20755400-20756800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
31	chr17:20755600-20756400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr17:20755800-20756400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:20755800-20756400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:20755800-20756400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:20755800-20756400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:20755800-20756400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
37	chr17:20755800-20756400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
38	chr17:20755800-20756400	Flanking Bivalent TSS/Enh	HSMMtube	muscle
39	chr17:20755800-20756400	Enhancers	K562	blood
40	chr17:20755800-20756600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:20755800-20756600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
42	chr17:20755800-20756600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
43	chr17:20756000-20756400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:20756000-20756400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr17:20756000-20756400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
46	chr17:20756000-20756400	Active TSS	Rectal Smooth Muscle	rectum
47	chr17:20756000-20756400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
48	chr17:20756000-20756400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
49	chr17:20756000-20756400	Flanking Bivalent TSS/Enh	A549	lung
50	chr17:20756000-20756400	Bivalent/Poised TSS	HSMM	muscle

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