Variant report

Variant	rs184239223
Chromosome Location	chr17:15466835-15466836
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:242)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:242 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr17:15466574-15466910	HepG2	liver:	n/a	chr17:15466630-15466639
2	POLR2A	chr17:15466126-15467848	GM12892	blood:	n/a	n/a
3	HCFC1	chr17:15466632-15467129	Hela-S3	cervix:	n/a	n/a
4	GABPA	chr17:15466613-15466912	K562	blood:	n/a	chr17:15466659-15466668 chr17:15466661-15466670
5	SIN3AK20	chr17:15466550-15466928	A549	lung:	n/a	n/a
6	POLR2A	chr17:15466267-15466984	GM12891	blood:	n/a	n/a
7	POLR2A	chr17:15466642-15467007	IMR90	lung:	n/a	n/a
8	ZBTB7A	chr17:15466706-15466887	K562	blood:	n/a	n/a
9	HEY1	chr17:15464967-15466911	K562	blood:	n/a	n/a
10	POLR2A	chr17:15466197-15467487	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr17:15466721-15466922	K562	blood:	n/a	n/a
12	POLR2A	chr17:15466646-15466913	HCT-116	colon:	n/a	n/a
13	TCF12	chr17:15466545-15466916	GM12878	blood:	n/a	chr17:15466851-15466861 chr17:15466586-15466596
14	TAF1	chr17:15466391-15466924	Hela-S3	cervix:	n/a	n/a
15	REST	chr17:15466592-15466887	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr17:15466661-15466949	SK-N-SH	brain:	n/a	n/a
17	REST	chr17:15466562-15466915	HepG2	liver:	n/a	n/a
18	YY1	chr17:15466703-15466888	GM12891	blood:	n/a	chr17:15466756-15466768
19	YY1	chr17:15466647-15466891	GM12878	blood:	n/a	chr17:15466756-15466768
20	POLR2A	chr17:15466239-15467222	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:15466615-15467057	HUVEC	blood vessel:	n/a	n/a
22	RAD21	chr17:15466617-15466917	H1-hESC	embryonic stem cell:	n/a	n/a
23	YY1	chr17:15466363-15466915	HepG2	liver:	n/a	chr17:15466561-15466575 chr17:15466756-15466768
24	POLR2A	chr17:15466644-15466894	K562	blood:	n/a	n/a
25	TAF7	chr17:15466648-15466961	H1-hESC	embryonic stem cell:	n/a	n/a
26	HCFC1	chr17:15466665-15466916	K562	blood:	n/a	n/a
27	POLR2A	chr17:15465882-15466985	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr17:15466454-15466896	GM12891	blood:	n/a	n/a
29	USF1	chr17:15466577-15467049	A549	lung:	n/a	n/a
30	EGR1	chr17:15466666-15466926	K562	blood:	n/a	n/a
31	POU2F2	chr17:15466476-15466903	GM12891	blood:	n/a	chr17:15466734-15466746 chr17:15466659-15466671
32	SP1	chr17:15466418-15467004	A549	lung:	n/a	n/a
33	POLR2A	chr17:15466450-15466949	A549	lung:	n/a	n/a
34	POLR2A	chr17:15466643-15466956	HCT-116	colon:	n/a	n/a
35	TAF1	chr17:15466317-15467043	A549	lung:	n/a	n/a
36	PML	chr17:15466719-15466956	K562	blood:	n/a	n/a
37	POLR2A	chr17:15466304-15466951	GM12878	blood:	n/a	n/a
38	MYC	chr17:15466659-15466891	HepG2	liver:	n/a	n/a
39	SMC3	chr17:15466703-15466907	Hela-S3	cervix:	n/a	chr17:15466710-15466720
40	POLR2A	chr17:15466534-15466903	K562	blood:	n/a	n/a
41	POLR2A	chr17:15466175-15466921	H1-hESC	embryonic stem cell:	n/a	n/a
42	ETS1	chr17:15466711-15466885	K562	blood:	n/a	n/a
43	RFX5	chr17:15466711-15466921	HepG2	liver:	n/a	n/a
44	POLR2A	chr17:15466364-15467171	MCF-7	breast:	n/a	n/a
45	POLR2A	chr17:15466449-15466942	HepG2	liver:	n/a	n/a
46	POLR2A	chr17:15466293-15467305	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr17:15466652-15466919	K562	blood:	n/a	n/a
48	HEY1	chr17:15466427-15466913	HepG2	liver:	n/a	n/a
49	JUND	chr17:15466713-15466893	H1-hESC	embryonic stem cell:	n/a	n/a
50	UBTF	chr17:15466705-15466908	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15466826-15466876	GM06990	blood:	n/a
2	chr17:15466826-15466876	HPAEpiC	pulmonary alveolar:	n/a
3	chr17:15466826-15466876	SK-N-SH_RA	brain:	n/a
4	chr17:15466826-15466876	T-47D	breast:	n/a
5	chr17:15466826-15466876	HRCEpiC	kidney:	n/a
6	chr17:15466826-15466876	AoSMC	blood vessel:	n/a
7	chr17:15466826-15466876	BJ	skin:	n/a
8	chr17:15466826-15466876	HMEC	breast:	n/a
9	chr17:15466826-15466876	H1-hESC	embryonic stem cell:	embryo
10	chr17:15466826-15466876	AG10803	skin:	n/a
11	chr17:15466826-15466876	BE2_C	brain:	n/a
12	chr17:15466826-15466876	ECC-1	luminal epithelium:	n/a
13	chr17:15466826-15466876	HepG2	liver:	n/a
14	chr17:15466826-15466876	HEEpiC	esophagus:	n/a
15	chr17:15466826-15466876	GM12892	blood:	n/a
16	chr17:15466826-15466876	MCF10A-Er-Src	breast:	n/a
17	chr17:15466826-15466876	IMR90	lung:	fetal
18	chr17:15466826-15466876	HEK293	kidney:	embryo
19	chr17:15466826-15466876	NT2-D1	testis:	n/a
20	chr17:15466826-15466876	NH-A	brain:	n/a
21	chr17:15466826-15466876	AG04449	skin:	fetal
22	chr17:15466826-15466876	ProgFib	skin:	n/a
23	chr17:15466826-15466876	NHDF-neo	bronchial:	n/a
24	chr17:15466826-15466876	CMK	blood:	n/a
25	chr17:15466826-15466876	HAEpiC	amniotic membrane:	n/a
26	chr17:15466826-15466876	HRE	kidney:	n/a
27	chr17:15466826-15466876	NB4	blood:	n/a
28	chr17:15466826-15466876	HNPCEpiC	eye:	n/a
29	chr17:15466826-15466876	Jurkat	blood:	n/a
30	chr17:15466826-15466876	HUVEC	blood vessel:	n/a
31	chr17:15466826-15466876	Hepatocyte	liver:	n/a
32	chr17:15466826-15466876	HL-60	blood:	n/a
33	chr17:15466826-15466876	MCF-7	breast:	n/a
34	chr17:15466826-15466876	HCT-116	colon:	n/a
35	chr17:15466826-15466876	SKMC	muscle:	n/a
36	chr17:15466826-15466876	GM19239	blood:	n/a
37	chr17:15466826-15466876	HCPEpiC	choroid plexus:	n/a
38	chr17:15466826-15466876	HIPEpiC	eye:	n/a
39	chr17:15466826-15466876	GM12891	blood:	n/a
40	chr17:15466826-15466876	Hela-S3	cervix:	n/a
41	chr17:15466826-15466876	ovcar-3	ovarian:	n/a
42	chr17:15466826-15466876	PFSK-1	brain:	n/a
43	chr17:15466826-15466876	AG09319	gingival:	n/a
44	chr17:15466826-15466876	Caco-2	colon:	n/a
45	chr17:15466826-15466876	GM12878	blood:	n/a
46	chr17:15466826-15466876	SAEC	small airway:	n/a
47	chr17:15466826-15466876	U87	brain:	n/a
48	chr17:15466826-15466876	AG09309	skin:	n/a
49	chr17:15466826-15466876	RPTEC	kidney:	n/a
50	chr17:15466826-15466876	AG04450	lung:	fetal

No data

Variant related genes	Relation type
TVP23C-CDRT4	TF binding region
TVP23C	TF binding region
TVP23C	CpG island
TVP23C-CDRT4	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv960418	chr17:15441505-15470653	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	esv3338046	chr17:15466577-15467725	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15465200-15467400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:15465400-15467200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:15465400-15467400	Active TSS	HepG2	liver
4	chr17:15465400-15467600	Active TSS	Muscle Satellite Cultured Cells	--
5	chr17:15465400-15467600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:15465400-15467800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:15465600-15467400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr17:15465600-15467400	Active TSS	Hela-S3	cervix
9	chr17:15465600-15467600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:15465600-15467800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr17:15465600-15467800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:15465800-15467200	Active TSS	HMEC	breast
13	chr17:15465800-15467400	Active TSS	HUVEC	blood vessel
14	chr17:15465800-15467600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:15465800-15467600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:15465800-15467600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr17:15465800-15467600	Active TSS	Fetal Intestine Small	intestine
18	chr17:15466000-15467000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr17:15466000-15467000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:15466000-15467000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:15466000-15467200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr17:15466000-15467200	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr17:15466000-15467200	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr17:15466000-15467200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:15466000-15467200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:15466000-15467200	Active TSS	Brain Angular Gyrus	brain
27	chr17:15466000-15467200	Active TSS	Brain Cingulate Gyrus	brain
28	chr17:15466000-15467200	Active TSS	Dnd41	blood
29	chr17:15466000-15467200	Active TSS	HSMM	muscle
30	chr17:15466000-15467200	Active TSS	HSMMtube	muscle
31	chr17:15466000-15467200	Active TSS	NHDF-Ad	bronchial
32	chr17:15466000-15467400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr17:15466000-15467400	Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr17:15466000-15467400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:15466000-15467400	Active TSS	Brain Germinal Matrix	brain
36	chr17:15466000-15467400	Active TSS	Fetal Intestine Large	intestine
37	chr17:15466000-15467400	Active TSS	Fetal Muscle Trunk	muscle
38	chr17:15466000-15467400	Active TSS	Fetal Stomach	stomach
39	chr17:15466000-15467400	Active TSS	A549	lung
40	chr17:15466000-15467400	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr17:15466000-15467400	Active TSS	NH-A	brain
42	chr17:15466000-15467400	Active TSS	NHEK	skin
43	chr17:15466000-15467600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:15466000-15467600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:15466000-15467600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr17:15466000-15467600	Active TSS	Liver	Liver
47	chr17:15466000-15467600	Active TSS	Brain Anterior Caudate	brain
48	chr17:15466000-15467600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr17:15466000-15467600	Active TSS	Fetal Brain Female	brain
50	chr17:15466000-15467600	Active TSS	Osteobl	bone

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