Variant report

Variant	rs377053553
Chromosome Location	chr17:45726945-45726946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:45726211-45728657	HUVEC	blood vessel:	n/a	n/a
2	ZMIZ1	chr17:45726362-45727468	K562	blood:	n/a	n/a
3	HDAC2	chr17:45726474-45727589	MCF-7	breast:	n/a	n/a
4	E2F6	chr17:45726478-45727451	K562	blood:	n/a	chr17:45726715-45726723 chr17:45727206-45727215 chr17:45726860-45726872 chr17:45726670-45726685 chr17:45727293-45727302 chr17:45726714-45726724 chr17:45726715-45726723 chr17:45727384-45727393 chr17:45726934-45726943 chr17:45726715-45726723 chr17:45727140-45727155
5	RELA	chr17:45726279-45728208	GM19099	blood:	n/a	n/a
6	SP2	chr17:45726784-45727446	K562	blood:	n/a	n/a
7	POLR2A	chr17:45726273-45727405	K562	blood:	n/a	n/a
8	POLR2A	chr17:45726127-45728380	HL-60	blood:	n/a	n/a
9	E2F6	chr17:45726352-45727626	H1-hESC	embryonic stem cell:	n/a	chr17:45726715-45726723 chr17:45727206-45727215 chr17:45726860-45726872 chr17:45726670-45726685 chr17:45727293-45727302 chr17:45726714-45726724 chr17:45726715-45726723 chr17:45727590-45727600 chr17:45727384-45727393 chr17:45726934-45726943 chr17:45726715-45726723 chr17:45727140-45727155
10	POLR2A	chr17:45726230-45727472	GM12891	blood:	n/a	n/a
11	POLR2A	chr17:45726309-45728382	GM15510	blood:	n/a	n/a
12	GABPA	chr17:45726425-45727614	MCF-7	breast:	n/a	n/a
13	ATF1	chr17:45726594-45727381	K562	blood:	n/a	n/a
14	POLR2A	chr17:45726149-45728459	K562	blood:	n/a	n/a
15	MAZ	chr17:45726514-45728676	GM12878	blood:	n/a	chr17:45728146-45728156 chr17:45728516-45728525
16	FOSL2	chr17:45726333-45726956	A549	lung:	n/a	n/a
17	PAX5	chr17:45726614-45727447	GM12892	blood:	n/a	n/a
18	TCF12	chr17:45726373-45727525	A549	lung:	n/a	n/a
19	POLR2A	chr17:45726068-45728890	HUVEC	blood vessel:	n/a	n/a
20	TCF3	chr17:45726306-45726984	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:45726435-45728849	IMR90	lung:	n/a	n/a
22	RFX5	chr17:45725934-45729843	SK-N-SH	brain:	n/a	chr17:45726842-45726851 chr17:45726840-45726856
23	NFYA	chr17:45726385-45727441	K562	blood:	n/a	chr17:45727071-45727086 chr17:45726931-45726943 chr17:45727071-45727086
24	POLR2A	chr17:45726127-45728751	K562	blood:	n/a	n/a
25	TBL1XR1	chr17:45726420-45727387	K562	blood:	n/a	n/a
26	CHD2	chr17:45726396-45728758	K562	blood:	n/a	chr17:45726851-45726861
27	SIN3AK20	chr17:45726346-45727001	HepG2	liver:	n/a	n/a
28	POLR2A	chr17:45726105-45727475	U87	brain:	n/a	n/a
29	MYC	chr17:45726406-45728356	Hela-S3	cervix:	n/a	chr17:45728146-45728156
30	POLR2A	chr17:45726131-45728382	GM18526	blood:	n/a	n/a
31	CHD2	chr17:45726284-45728450	GM12878	blood:	n/a	chr17:45726851-45726861
32	E2F4	chr17:45726315-45728296	K562	blood:	n/a	chr17:45726715-45726723 chr17:45727206-45727215 chr17:45726860-45726872 chr17:45728024-45728034 chr17:45726670-45726685 chr17:45727293-45727302 chr17:45726714-45726724 chr17:45728148-45728160 chr17:45726715-45726723 chr17:45727590-45727600 chr17:45728148-45728157 chr17:45727384-45727393 chr17:45726934-45726943 chr17:45726715-45726723 chr17:45727867-45727879 chr17:45727140-45727155
33	IRF1	chr17:45726142-45729396	K562	blood:	n/a	chr17:45726934-45726943 chr17:45729362-45729376 chr17:45729366-45729376 chr17:45729365-45729376 chr17:45729366-45729380 chr17:45726787-45726801 chr17:45726149-45726159
34	RCOR1	chr17:45726241-45727489	K562	blood:	n/a	n/a
35	POLR2A	chr17:45726142-45728429	MCF10A-Er-Src	breast:	n/a	n/a
36	POU2F2	chr17:45726645-45727484	GM12878	blood:	n/a	chr17:45727384-45727396 chr17:45727387-45727399 chr17:45726697-45726709
37	CHD2	chr17:45726490-45728750	Hela-S3	cervix:	n/a	chr17:45726851-45726861
38	GATA3	chr17:45726617-45727437	T-47D	breast:	n/a	n/a
39	EP300	chr17:45726377-45727483	SK-N-SH_RA	brain:	n/a	n/a
40	POLR2A	chr17:45726410-45727915	A549	lung:	n/a	n/a
41	ZNF263	chr17:45726440-45727476	HEK293-T-REx	kidney:	n/a	chr17:45727408-45727417 chr17:45726974-45726983
42	SP2	chr17:45726772-45727374	K562	blood:	n/a	n/a
43	TEAD4	chr17:45726206-45727457	HepG2	liver:	n/a	n/a
44	RCOR1	chr17:45726326-45727486	K562	blood:	n/a	n/a
45	MYBL2	chr17:45726192-45727486	HepG2	liver:	n/a	n/a
46	SP1	chr17:45726682-45727536	H1-hESC	embryonic stem cell:	n/a	chr17:45726696-45726708 chr17:45727376-45727388 chr17:45726854-45726868 chr17:45726698-45726707 chr17:45726696-45726708 chr17:45727376-45727388 chr17:45726789-45726800 chr17:45727021-45727042 chr17:45726790-45726804
47	ELK4	chr17:45726529-45727338	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr17:45725674-45729177	PFSK-1	brain:	n/a	n/a
49	MXI1	chr17:45726408-45727441	H1-hESC	embryonic stem cell:	n/a	n/a
50	SP1	chr17:45726756-45727450	K562	blood:	n/a	chr17:45727376-45727388 chr17:45726854-45726868 chr17:45727376-45727388 chr17:45726789-45726800 chr17:45727021-45727042 chr17:45726790-45726804

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:45726922-45726972	SK-N-SH_RA	brain:	n/a
2	chr17:45726922-45726972	HRE	kidney:	n/a
3	chr17:45726922-45726972	HCPEpiC	choroid plexus:	n/a
4	chr17:45726922-45726972	AoSMC	blood vessel:	n/a
5	chr17:45726922-45726972	HCM	heart:	n/a
6	chr17:45726922-45726972	RPTEC	kidney:	n/a
7	chr17:45726922-45726972	GM06990	blood:	n/a
8	chr17:45726922-45726972	BE2_C	brain:	n/a
9	chr17:45726922-45726972	LNCaP	prostate:	n/a
10	chr17:45726922-45726972	AG10803	skin:	n/a
11	chr17:45726922-45726972	HCT-116	colon:	n/a
12	chr17:45726922-45726972	SAEC	small airway:	n/a
13	chr17:45726922-45726972	T-47D	breast:	n/a
14	chr17:45726922-45726972	HIPEpiC	eye:	n/a
15	chr17:45726922-45726972	HRPEpiC	eye:	n/a
16	chr17:45726922-45726972	NB4	blood:	n/a
17	chr17:45726922-45726972	Jurkat	blood:	n/a
18	chr17:45726922-45726972	CMK	blood:	n/a
19	chr17:45726922-45726972	A549	lung:	n/a
20	chr17:45726922-45726972	GM12878	blood:	n/a
21	chr17:45726922-45726972	HPAEpiC	pulmonary alveolar:	n/a
22	chr17:45726922-45726972	HMEC	breast:	n/a
23	chr17:45726922-45726972	NHDF-neo	bronchial:	n/a
24	chr17:45726922-45726972	HEK293	kidney:	embryo
25	chr17:45726922-45726972	ProgFib	skin:	n/a
26	chr17:45726922-45726972	GM12892	blood:	n/a
27	chr17:45726922-45726972	SK-N-MC	brain:	n/a
28	chr17:45726922-45726972	Hela-S3	cervix:	n/a
29	chr17:45726922-45726972	SK-N-SH	brain:	n/a
30	chr17:45726922-45726972	SKMC	muscle:	n/a
31	chr17:45726922-45726972	BJ	skin:	n/a
32	chr17:45726922-45726972	AG04450	lung:	fetal
33	chr17:45726922-45726972	NH-A	brain:	n/a
34	chr17:45726922-45726972	HAEpiC	amniotic membrane:	n/a
35	chr17:45726922-45726972	IMR90	lung:	fetal
36	chr17:45726922-45726972	Caco-2	colon:	n/a
37	chr17:45726922-45726972	H1-hESC	embryonic stem cell:	embryo
38	chr17:45726922-45726972	MCF-7	breast:	n/a
39	chr17:45726922-45726972	ECC-1	luminal epithelium:	n/a
40	chr17:45726922-45726972	HL-60	blood:	n/a
41	chr17:45726922-45726972	MCF10A-Er-Src	breast:	n/a
42	chr17:45726922-45726972	PrEC	prostate:	n/a
43	chr17:45726922-45726972	HUVEC	blood vessel:	n/a
44	chr17:45726922-45726972	NT2-D1	testis:	n/a
45	chr17:45726922-45726972	GM19239	blood:	n/a
46	chr17:45726922-45726972	HNPCEpiC	eye:	n/a
47	chr17:45726922-45726972	HRCEpiC	kidney:	n/a
48	chr17:45726922-45726972	K562	blood:	n/a
49	chr17:45726922-45726972	HCF	heart:	n/a
50	chr17:45726922-45726972	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45725427..45729938-chr17:45759883..45763405,4	K562	blood:
2	chr16:278894..279698-chr17:45726239..45727161,2	Hela-S3	cervix:
3	chr17:45725747..45727611-chr17:45884252..45887189,2	MCF-7	breast:
4	chr17:45725675..45729413-chr17:45768882..45774493,5	K562	blood:
5	chr17:45568465..45570063-chr17:45725230..45727294,2	K562	blood:
6	chr17:45694580..45697420-chr17:45726459..45728756,2	K562	blood:
7	chr17:45726598..45732836-chr17:45743871..45749720,11	K562	blood:
8	chr17:45726797..45728320-chr17:45906993..45909884,2	MCF-7	breast:
9	chr17:45725833..45728916-chr17:45770004..45772680,3	MCF-7	breast:
10	chr17:45724693..45730044-chr17:45766323..45778247,15	K562	blood:
11	chr1:28832502..28833142-chr17:45726747..45727691,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC040934.1-3	chr17:45724887-45727274	NONHSAT054322

Variant related genes	Relation type
KPNB1	TF binding region
ENSG00000263766	TF binding region
ENSG00000263766	CpG island
KPNB1	CpG island
ENSG00000108424	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000228782	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000198933	Chromatin interaction
ENSG00000264558	Chromatin interaction
ENSG00000141279	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000242125	Chromatin interaction
ENSG00000159111	Chromatin interaction
ENSG00000007392	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	esv3385479	chr17:45726703-45729151	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45725600-45728200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:45725600-45728400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr17:45725600-45728400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr17:45725600-45728400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:45725600-45728600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr17:45725800-45728200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr17:45725800-45728200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr17:45725800-45728400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr17:45725800-45728600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr17:45725800-45728600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr17:45725800-45728600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr17:45725800-45728600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:45725800-45728800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:45725800-45729200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:45726000-45727400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:45726000-45728600	Active TSS	Psoas Muscle	Psoas
17	chr17:45726000-45728800	Active TSS	Right Ventricle	heart
18	chr17:45726200-45727000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr17:45726200-45727000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:45726200-45728000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:45726200-45728400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:45726200-45728400	Active TSS	Lung	lung
23	chr17:45726200-45728400	Active TSS	Ovary	ovary
24	chr17:45726200-45728600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:45726200-45728600	Active TSS	Aorta	Aorta
26	chr17:45726200-45728600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr17:45726200-45728600	Active TSS	Gastric	stomach
28	chr17:45726200-45728600	Active TSS	Small Intestine	intestine
29	chr17:45726200-45728800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:45726200-45728800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:45726200-45728800	Active TSS	Placenta Amnion	Placenta Amnion
32	chr17:45726400-45728200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:45726400-45728200	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr17:45726400-45728200	Active TSS	A549	lung
35	chr17:45726400-45728400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:45726400-45728400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr17:45726400-45728400	Active TSS	Colon Smooth Muscle	Colon
38	chr17:45726400-45728400	Active TSS	Rectal Smooth Muscle	rectum
39	chr17:45726400-45728400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr17:45726400-45728400	Active TSS	Stomach Mucosa	stomach
41	chr17:45726400-45728600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr17:45726400-45728600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr17:45726400-45728800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr17:45726400-45728800	Active TSS	Esophagus	oesophagus
45	chr17:45726400-45728800	Active TSS	Left Ventricle	heart
46	chr17:45726600-45727000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr17:45726600-45727000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr17:45726600-45727400	Active TSS	Fetal Brain Male	brain
49	chr17:45726600-45727800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
50	chr17:45726600-45728000	Active TSS	Primary T cells fromperipheralblood	blood

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