Variant report

Variant	rs201098929
Chromosome Location	chr17:45234618-45234619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RPC155	chr17:45234143-45234789	Hela-S3	cervix:	n/a	n/a
2	TBL1XR1	chr17:45234136-45234801	K562	blood:	n/a	n/a
3	EP300	chr17:45234135-45234800	GM12878	blood:	n/a	chr17:45234190-45234198
4	ZNF143	chr17:45234134-45234629	Hela-S3	cervix:	n/a	n/a
5	JUN	chr17:45234132-45234636	K562	blood:	n/a	n/a
6	NR2C2	chr17:45234134-45234632	K562	blood:	n/a	n/a
7	MAFK	chr17:45234139-45234721	Hela-S3	cervix:	n/a	n/a
8	SMC3	chr17:45234137-45234796	Hela-S3	cervix:	n/a	n/a
9	ZNF274	chr17:45234145-45234709	K562	blood:	n/a	n/a
10	CTCF	chr17:45234480-45234630	K562	blood:	n/a	n/a
11	ZNF143	chr17:45234132-45234800	K562	blood:	n/a	n/a
12	WRNIP1	chr17:45234128-45234799	GM12878	blood:	n/a	n/a
13	BACH1	chr17:45234131-45234799	K562	blood:	n/a	n/a
14	TBL1XR1	chr17:45234132-45234798	K562	blood:	n/a	n/a
15	HCFC1	chr17:45234137-45234798	K562	blood:	n/a	n/a
16	IRF1	chr17:45234142-45234623	K562	blood:	n/a	n/a
17	MAX	chr17:45234133-45234793	GM12878	blood:	n/a	n/a
18	ELK1	chr17:45234128-45234803	GM12878	blood:	n/a	n/a
19	STAT3	chr17:45234133-45234800	GM12878	blood:	n/a	n/a
20	CTCF	chr17:45234145-45234626	K562	blood:	n/a	n/a
21	TBP	chr17:45234135-45234682	K562	blood:	n/a	n/a
22	USF2	chr17:45234132-45234794	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr17:45234560-45234710	GM12875	blood:	n/a	n/a
24	GATA3	chr17:45234136-45234714	SH-SY5Y	brain:	n/a	n/a
25	JUND	chr17:45234134-45234633	K562	blood:	n/a	n/a
26	IRF3	chr17:45234134-45234797	GM12878	blood:	n/a	chr17:45234785-45234794
27	POLR2A	chr17:45234132-45234715	MCF10A-Er-Src	breast:	n/a	n/a
28	UBTF	chr17:45234141-45234633	K562	blood:	n/a	n/a
29	FOXP2	chr17:45234200-45234781	SK-N-MC	brain:	n/a	n/a
30	TAL1	chr17:45234136-45234796	K562	blood:	n/a	n/a
31	TCF7L2	chr17:45234128-45234798	MCF-7	breast:	n/a	n/a
32	CEBPB	chr17:45234137-45234861	K562	blood:	n/a	n/a
33	PRDM1	chr17:45234135-45234796	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr17:45234131-45234630	K562	blood:	n/a	n/a
35	RFX5	chr17:45234128-45234798	GM12878	blood:	n/a	n/a
36	GTF2F1	chr17:45234136-45234799	K562	blood:	n/a	n/a
37	BRF2	chr17:45234129-45234644	Hela-S3	cervix:	n/a	n/a
38	ZNF384	chr17:45234129-45234799	GM12878	blood:	n/a	n/a
39	SMC3	chr17:45234134-45234797	GM12878	blood:	n/a	n/a
40	POLR2A	chr17:45234280-45234639	GM12878	blood:	n/a	n/a
41	HA-E2F1	chr17:45234131-45234797	MCF-7	breast:	n/a	n/a
42	CTCF	chr17:45234480-45234630	HUVEC	blood vessel:	n/a	n/a
43	NR2C2	chr17:45234132-45234798	GM12878	blood:	n/a	n/a
44	ZMIZ1	chr17:45234137-45234626	K562	blood:	n/a	n/a
45	MXI1	chr17:45234138-45234798	Hela-S3	cervix:	n/a	n/a
46	EP300	chr17:45234148-45234678	Hela-S3	cervix:	n/a	chr17:45234190-45234198
47	ZKSCAN1	chr17:45234134-45234797	Hela-S3	cervix:	n/a	n/a
48	CHD1	chr17:45234134-45234628	GM12878	blood:	n/a	n/a
49	MAX	chr17:45234134-45234635	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr17:45234560-45234710	AoAF	blood vessel:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45234327..45234832-chr2:133019437..133020117,2	MCF-7	breast:
2	chr17:45234199..45236994-chr17:45399820..45401734,2	MCF-7	breast:
3	chr17:45234310..45237087-chr2:133018866..133020562,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000233786	Chromatin interaction
ENSG00000178852	Chromatin interaction
ENSG00000263293	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1796833	chr17:45212898-45244822	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv960498	chr17:45218734-45237019	Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv6177	chr17:45234367-45235619	Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3395000	chr17:45234376-45234687	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3447993	chr17:45234379-45235651	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3449463	chr17:45234432-45234645	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3379635	chr17:45234586-45234866	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3401397	chr17:45234611-45235674	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv3380182	chr17:45234618-45235650	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45231600-45236200	Weak transcription	Brain Germinal Matrix	brain
2	chr17:45234200-45235800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:45234200-45235800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:45234200-45235800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr17:45234200-45235800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr17:45234200-45235800	ZNF genes & repeats	Dnd41	blood
7	chr17:45234200-45235800	ZNF genes & repeats	Hela-S3	cervix
8	chr17:45234200-45235800	ZNF genes & repeats	HMEC	breast
9	chr17:45234200-45235800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr17:45234200-45235800	ZNF genes & repeats	Osteobl	bone
11	chr17:45234400-45236000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:45234400-45236000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:45234400-45236200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:45234600-45234800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:45234600-45235400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:45234600-45235400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:45234600-45235400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr17:45234600-45235400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr17:45234600-45235400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:45234600-45235400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:45234600-45235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:45234600-45235400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr17:45234600-45235400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:45234600-45235400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:45234600-45235400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:45234600-45235400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr17:45234600-45235400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:45234600-45235400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr17:45234600-45235400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr17:45234600-45235400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:45234600-45235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:45234600-45235400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:45234600-45235400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:45234600-45235400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:45234600-45235400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:45234600-45235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:45234600-45235400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr17:45234600-45235400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr17:45234600-45235400	Weak transcription	Primary B cells from cord blood	blood
40	chr17:45234600-45235400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr17:45234600-45235400	Weak transcription	Primary T cells from cord blood	blood
42	chr17:45234600-45235400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr17:45234600-45235400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr17:45234600-45235400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr17:45234600-45235400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr17:45234600-45235400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr17:45234600-45235400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr17:45234600-45235400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr17:45234600-45235400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr17:45234600-45235400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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