Variant report

Variant	rs28447038
Chromosome Location	chr17:20755297-20755298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:20755051-20755366	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr17:20755170-20755358	K562	blood:	n/a	n/a
3	POLR2A	chr17:20754849-20755720	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF263	chr17:20754968-20756339	HEK293-T-REx	kidney:	n/a	chr17:20755738-20755747 chr17:20755560-20755569 chr17:20755561-20755582
5	POLR2A	chr17:20755003-20755390	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr17:20755061-20755395	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr17:20754938-20755448	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr17:20754994-20755548	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20755268-20755318	HCT-116	colon:	n/a
2	chr17:20755268-20755318	GM12878	blood:	n/a
3	chr17:20755268-20755318	NT2-D1	testis:	n/a
4	chr17:20755268-20755318	GM06990	blood:	n/a
5	chr17:20755268-20755318	ECC-1	luminal epithelium:	n/a
6	chr17:20755268-20755318	PFSK-1	brain:	n/a
7	chr17:20755268-20755318	NHDF-neo	bronchial:	n/a
8	chr17:20755268-20755318	GM12892	blood:	n/a
9	chr17:20755268-20755318	SK-N-SH_RA	brain:	n/a
10	chr17:20755268-20755318	HCF	heart:	n/a
11	chr17:20755268-20755318	AG04449	skin:	fetal
12	chr17:20755268-20755318	Hepatocyte	liver:	n/a
13	chr17:20755268-20755318	Jurkat	blood:	n/a
14	chr17:20755268-20755318	T-47D	breast:	n/a
15	chr17:20755268-20755318	HIPEpiC	eye:	n/a
16	chr17:20755268-20755318	U87	brain:	n/a
17	chr17:20755268-20755318	GM19239	blood:	n/a
18	chr17:20755268-20755318	ovcar-3	ovarian:	n/a
19	chr17:20755268-20755318	ProgFib	skin:	n/a
20	chr17:20755268-20755318	HEK293	kidney:	embryo
21	chr17:20755268-20755318	HPAEpiC	pulmonary alveolar:	n/a
22	chr17:20755268-20755318	RPTEC	kidney:	n/a
23	chr17:20755268-20755318	H1-hESC	embryonic stem cell:	embryo
24	chr17:20755268-20755318	CMK	blood:	n/a
25	chr17:20755268-20755318	SK-N-MC	brain:	n/a
26	chr17:20755268-20755318	AG10803	skin:	n/a
27	chr17:20755268-20755318	HMEC	breast:	n/a
28	chr17:20755268-20755318	SKMC	muscle:	n/a
29	chr17:20755268-20755318	SAEC	small airway:	n/a
30	chr17:20755268-20755318	NHBE	bronchial:	n/a
31	chr17:20755268-20755318	HAEpiC	amniotic membrane:	n/a
32	chr17:20755268-20755318	NH-A	brain:	n/a
33	chr17:20755268-20755318	HepG2	liver:	n/a
34	chr17:20755268-20755318	IMR90	lung:	fetal
35	chr17:20755268-20755318	AoSMC	blood vessel:	n/a
36	chr17:20755268-20755318	AG09309	skin:	n/a
37	chr17:20755268-20755318	Hela-S3	cervix:	n/a
38	chr17:20755268-20755318	AG09319	gingival:	n/a
39	chr17:20755268-20755318	PANC-1	pancreas:	n/a
40	chr17:20755268-20755318	HL-60	blood:	n/a
41	chr17:20755268-20755318	Caco-2	colon:	n/a
42	chr17:20755268-20755318	HRE	kidney:	n/a
43	chr17:20755268-20755318	HUVEC	blood vessel:	n/a
44	chr17:20755268-20755318	HNPCEpiC	eye:	n/a
45	chr17:20755268-20755318	MCF-7	breast:	n/a
46	chr17:20755268-20755318	BE2_C	brain:	n/a
47	chr17:20755268-20755318	HCM	heart:	n/a
48	chr17:20755268-20755318	GM12891	blood:	n/a
49	chr17:20755268-20755318	SK-N-SH	brain:	n/a
50	chr17:20755268-20755318	PrEC	prostate:	n/a

No data

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs9890109	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20747600-20755400	Weak transcription	Esophagus	oesophagus
2	chr17:20754600-20756200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:20754800-20755400	Bivalent Enhancer	NHEK	skin
4	chr17:20754800-20755600	Bivalent Enhancer	Fetal Lung	lung
5	chr17:20754800-20756400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr17:20754800-20756600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr17:20754800-20756600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
8	chr17:20754800-20756800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr17:20755000-20755400	Enhancers	Brain Substantia Nigra	brain
10	chr17:20755000-20755400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr17:20755000-20755800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
12	chr17:20755000-20755800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:20755000-20755800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr17:20755000-20755800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:20755000-20756200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:20755000-20756200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr17:20755000-20756400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr17:20755000-20756400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:20755000-20756600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr17:20755200-20755400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:20755200-20755400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
22	chr17:20755200-20755400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:20755200-20755400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:20755200-20755400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr17:20755200-20755400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:20755200-20755400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
27	chr17:20755200-20755400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr17:20755200-20755400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
29	chr17:20755200-20755400	Bivalent/Poised TSS	HSMM	muscle
30	chr17:20755200-20755600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr17:20755200-20755600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:20755200-20755600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
33	chr17:20755200-20755600	Bivalent/Poised TSS	NH-A	brain
34	chr17:20755200-20755800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:20755200-20755800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
36	chr17:20755200-20755800	Active TSS	Colonic Mucosa	Colon
37	chr17:20755200-20755800	Bivalent/Poised TSS	Placenta	Placenta
38	chr17:20755200-20755800	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr17:20755200-20755800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr17:20755200-20756000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:20755200-20756000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
42	chr17:20755200-20756000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr17:20755200-20756200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:20755200-20756200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr17:20755200-20756200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
46	chr17:20755200-20756200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr17:20755200-20756200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr17:20755200-20756200	Flanking Active TSS	HMEC	breast
49	chr17:20755200-20756400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr17:20755200-20756400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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