Variant report

Variant	rs9901668
Chromosome Location	chr17:20756087-20756088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr17:20756043-20756211	SK-N-SH_RA	brain:	n/a	n/a
2	POLR2A	chr17:20755889-20756949	K562	blood:	n/a	n/a
3	POLR2A	chr17:20755914-20756144	MCF-7	breast:	n/a	n/a
4	RAD21	chr17:20755993-20756242	SK-N-SH_RA	brain:	n/a	n/a
5	POLR2A	chr17:20755741-20756446	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr17:20755719-20756582	HepG2	liver:	n/a	n/a
7	CTCF	chr17:20756002-20756317	MCF-7	breast:	n/a	n/a
8	CTCF	chr17:20756077-20756263	Medullo	brain:	n/a	n/a
9	CTCF	chr17:20756020-20756170	Caco-2	colon:	n/a	n/a
10	CTCF	chr17:20756060-20756210	SK-N-SH_RA	brain:	n/a	n/a
11	UBTF	chr17:20755891-20756269	K562	blood:	n/a	n/a
12	TBP	chr17:20755811-20756256	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr17:20755860-20756194	K562	blood:	n/a	n/a
14	USF2	chr17:20755985-20756185	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr17:20755906-20756094	Gliobla	brain:	n/a	n/a
16	CTCF	chr17:20756060-20756210	WERI-Rb-1	eye:	n/a	n/a
17	JUND	chr17:20756061-20756165	K562	blood:	n/a	n/a
18	POLR2A	chr17:20756010-20756308	A549	lung:	n/a	n/a
19	CTCF	chr17:20756010-20756315	MCF-7	breast:	n/a	n/a
20	POLR2A	chr17:20755819-20756335	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr17:20755901-20756230	MCF-7	breast:	n/a	n/a
22	CTCF	chr17:20756078-20756095	Lung_OC	lung:	n/a	n/a
23	ZNF263	chr17:20754968-20756339	HEK293-T-REx	kidney:	n/a	chr17:20755738-20755747 chr17:20755560-20755569 chr17:20755561-20755582
24	CTCF	chr17:20755953-20756232	Fibrobl	skin:	n/a	n/a
25	TAF1	chr17:20755939-20756243	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr17:20756053-20756142	MCF-7	breast:	n/a	n/a
27	SIN3AK20	chr17:20755853-20756109	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr17:20756060-20756210	Caco-2	colon:	n/a	n/a
29	POLR2A	chr17:20755794-20756250	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr17:20755999-20756311	MCF-7	breast:	n/a	n/a
31	SIN3A	chr17:20755765-20756320	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr17:20755966-20756187	MCF-7	breast:	n/a	n/a
33	KAP1	chr17:20755863-20756223	HEK293	kidney:	n/a	n/a
34	MYC	chr17:20756012-20756261	MCF-7	breast:	n/a	n/a
35	CTCF	chr17:20755960-20756110	A549	lung:	n/a	n/a
36	CTCF	chr17:20756080-20756230	SAEC	small airway:	n/a	n/a
37	POLR2A	chr17:20756046-20756155	K562	blood:	n/a	n/a
38	POLR2A	chr17:20755868-20756092	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr17:20756044-20756300	MCF-7	breast:	n/a	n/a
40	POLR2A	chr17:20755901-20756250	H1-hESC	embryonic stem cell:	n/a	n/a
41	MXI1	chr17:20755966-20756182	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr17:20756080-20756230	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr17:20756080-20756230	HEK293	kidney:	n/a	n/a
44	TAF1	chr17:20755700-20756341	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr17:20755977-20756312	A549	lung:	n/a	n/a
46	CTCF	chr17:20756048-20756313	Gliobla	brain:	n/a	n/a
47	CTCF	chr17:20756082-20756216	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr17:20756080-20756230	MCF-7	breast:	n/a	n/a
49	CTCF	chr17:20755975-20756309	MCF-7	breast:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000266369	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs9903558	1.00[AFR][1000 genomes]
rs9906848	1.00[AFR][1000 genomes]
rs9906947	1.00[AFR][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	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20754600-20756200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr17:20754800-20756400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr17:20754800-20756600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr17:20754800-20756600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
5	chr17:20754800-20756800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr17:20755000-20756200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:20755000-20756200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr17:20755000-20756400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr17:20755000-20756400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:20755000-20756600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr17:20755200-20756200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:20755200-20756200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr17:20755200-20756200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
14	chr17:20755200-20756200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
15	chr17:20755200-20756200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
16	chr17:20755200-20756200	Flanking Active TSS	HMEC	breast
17	chr17:20755200-20756400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:20755200-20756400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:20755200-20756400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:20755200-20756400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:20755200-20756400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:20755200-20756400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:20755200-20756400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:20755200-20756400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chr17:20755200-20756400	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr17:20755200-20756400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
27	chr17:20755200-20756400	Bivalent/Poised TSS	Fetal Kidney	kidney
28	chr17:20755200-20756400	Enhancers	Spleen	Spleen
29	chr17:20755200-20756400	Bivalent/Poised TSS	Osteobl	bone
30	chr17:20755200-20756600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr17:20755200-20756600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr17:20755200-20756600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:20755200-20756600	Active TSS	Colon Smooth Muscle	Colon
34	chr17:20755200-20756800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:20755400-20756200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr17:20755400-20756200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr17:20755400-20756200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:20755400-20756200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr17:20755400-20756200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
40	chr17:20755400-20756200	Active TSS	Right Atrium	heart
41	chr17:20755400-20756200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
42	chr17:20755400-20756200	Flanking Bivalent TSS/Enh	NHEK	skin
43	chr17:20755400-20756400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:20755400-20756400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr17:20755400-20756400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr17:20755400-20756400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr17:20755400-20756800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
48	chr17:20755600-20756400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
49	chr17:20755800-20756200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:20755800-20756200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived

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