Variant report

Variant	rs369759806
Chromosome Location	chr3:47018707-47018708
allele	G/T
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	NR2F2	chr3:47018402-47018712	K562	blood:	n/a	n/a
2	FOS	chr3:47018209-47018792	MCF10A-Er-Src	breast:	n/a	chr3:47018623-47018634 chr3:47018622-47018630 chr3:47018620-47018631 chr3:47018620-47018632
3	TEAD4	chr3:47018386-47018745	K562	blood:	n/a	n/a
4	UBTF	chr3:47018453-47018740	K562	blood:	n/a	n/a
5	PBX3	chr3:47017742-47018770	SK-N-SH	brain:	n/a	chr3:47018339-47018348
6	BHLHE40	chr3:47017672-47018728	K562	blood:	n/a	n/a
7	JUND	chr3:47017778-47018765	Hela-S3	cervix:	n/a	chr3:47018623-47018634 chr3:47018622-47018630 chr3:47018620-47018632 chr3:47018620-47018631
8	SP1	chr3:47018048-47018717	GM12878	blood:	n/a	chr3:47018397-47018408 chr3:47018382-47018393 chr3:47018337-47018358
9	MAX	chr3:47018393-47018797	K562	blood:	n/a	chr3:47018622-47018631
10	RUNX3	chr3:47018371-47018731	GM12878	blood:	n/a	n/a
11	TEAD4	chr3:47018008-47018760	ECC-1	luminal epithelium:	n/a	n/a
12	HEY1	chr3:47018453-47018735	K562	blood:	n/a	n/a
13	MAFF	chr3:47018158-47018768	K562	blood:	n/a	n/a
14	ATF3	chr3:47018451-47018714	K562	blood:	n/a	n/a
15	SP1	chr3:47017965-47018760	H1-hESC	embryonic stem cell:	n/a	chr3:47018397-47018408 chr3:47018382-47018393 chr3:47018337-47018358
16	POLR2A	chr3:47017651-47018727	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr3:47018485-47018717	H1-hESC	embryonic stem cell:	n/a	n/a
18	SP4	chr3:47017807-47018720	H1-hESC	embryonic stem cell:	n/a	chr3:47018397-47018408 chr3:47018382-47018393
19	SP1	chr3:47017955-47018741	H1-hESC	embryonic stem cell:	n/a	chr3:47018397-47018408 chr3:47018382-47018393 chr3:47018337-47018358
20	MAZ	chr3:47017484-47018740	IMR90	lung:	n/a	chr3:47018622-47018631
21	MAX	chr3:47017636-47018739	MCF-7	breast:	n/a	chr3:47018622-47018631
22	TAF1	chr3:47017605-47018743	K562	blood:	n/a	n/a
23	POLR2A	chr3:47018394-47018730	Hela-S3	cervix:	n/a	n/a
24	SP1	chr3:47017719-47018757	A549	lung:	n/a	chr3:47018397-47018408 chr3:47018382-47018393 chr3:47018337-47018358
25	PML	chr3:47017421-47018735	GM12878	blood:	n/a	chr3:47018623-47018632
26	EP300	chr3:47017727-47018742	K562	blood:	n/a	n/a
27	MYC	chr3:47017732-47018740	K562	blood:	n/a	chr3:47018622-47018631
28	TAF1	chr3:47018391-47018743	H1-hESC	embryonic stem cell:	n/a	n/a
29	STAT5A	chr3:47018351-47018750	GM12878	blood:	n/a	n/a
30	NRF1	chr3:47017448-47018768	SK-N-SH	brain:	n/a	chr3:47017991-47018002 chr3:47018009-47018020
31	STAT3	chr3:47018396-47018715	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr3:47017680-47018756	K562	blood:	n/a	n/a
33	TEAD4	chr3:47018292-47018856	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr3:47018383-47018782	K562	blood:	n/a	chr3:47018622-47018631
35	FOSL2	chr3:47017558-47018791	HepG2	liver:	n/a	chr3:47018623-47018634 chr3:47018622-47018630 chr3:47018620-47018632
36	TBP	chr3:47017759-47018719	Hela-S3	cervix:	n/a	n/a
37	ZNF384	chr3:47017639-47018779	K562	blood:	n/a	n/a
38	POLR2A	chr3:47018408-47018739	H1-hESC	embryonic stem cell:	n/a	n/a
39	RFX5	chr3:47017804-47018727	Hela-S3	cervix:	n/a	chr3:47018339-47018348
40	ELF1	chr3:47017754-47018708	K562	blood:	n/a	n/a
41	SRF	chr3:47018392-47018732	H1-hESC	embryonic stem cell:	n/a	n/a
42	YY1	chr3:47017627-47018732	SK-N-SH	brain:	n/a	n/a
43	FOSL2	chr3:47018354-47018771	A549	lung:	n/a	chr3:47018623-47018634 chr3:47018622-47018630 chr3:47018620-47018632
44	POLR2A	chr3:47018423-47018728	ECC-1	luminal epithelium:	n/a	n/a
45	TCF12	chr3:47017769-47018732	ECC-1	luminal epithelium:	n/a	n/a
46	TBP	chr3:47017793-47018746	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr3:47018385-47018742	HCT-116	colon:	n/a	n/a
48	TEAD4	chr3:47018398-47018747	A549	lung:	n/a	n/a
49	MAX	chr3:47017582-47018741	ECC-1	luminal epithelium:	n/a	chr3:47018622-47018631
50	YY1	chr3:47017828-47018737	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:47018657-47018707	RPTEC	kidney:	n/a
2	chr3:47018657-47018707	MCF10A-Er-Src	breast:	n/a
3	chr3:47018657-47018707	HRCEpiC	kidney:	n/a
4	chr3:47018686-47018736	NHBE	bronchial:	n/a
5	chr3:47018657-47018707	Jurkat	blood:	n/a
6	chr3:47018657-47018707	BJ	skin:	n/a
7	chr3:47018657-47018707	U87	brain:	n/a
8	chr3:47018657-47018707	CMK	blood:	n/a
9	chr3:47018686-47018736	HNPCEpiC	eye:	n/a
10	chr3:47018686-47018736	Caco-2	colon:	n/a
11	chr3:47018657-47018707	IMR90	lung:	fetal
12	chr3:47018657-47018707	SK-N-SH_RA	brain:	n/a
13	chr3:47018686-47018736	A549	lung:	n/a
14	chr3:47018686-47018736	NB4	blood:	n/a
15	chr3:47018686-47018736	MCF10A-Er-Src	breast:	n/a
16	chr3:47018657-47018707	ECC-1	luminal epithelium:	n/a
17	chr3:47018657-47018707	AG04450	lung:	fetal
18	chr3:47018657-47018707	HUVEC	blood vessel:	n/a
19	chr3:47018686-47018736	GM12891	blood:	n/a
20	chr3:47018686-47018736	HAEpiC	amniotic membrane:	n/a
21	chr3:47018686-47018736	HPAEpiC	pulmonary alveolar:	n/a
22	chr3:47018657-47018707	HNPCEpiC	eye:	n/a
23	chr3:47018657-47018707	HCM	heart:	n/a
24	chr3:47018657-47018707	HMEC	breast:	n/a
25	chr3:47018657-47018707	HRPEpiC	eye:	n/a
26	chr3:47018686-47018736	HL-60	blood:	n/a
27	chr3:47018657-47018707	SKMC	muscle:	n/a
28	chr3:47018686-47018736	HRCEpiC	kidney:	n/a
29	chr3:47018686-47018736	RPTEC	kidney:	n/a
30	chr3:47018657-47018707	SK-N-SH	brain:	n/a
31	chr3:47018657-47018707	NB4	blood:	n/a
32	chr3:47018686-47018736	HIPEpiC	eye:	n/a
33	chr3:47018686-47018736	Jurkat	blood:	n/a
34	chr3:47018686-47018736	Hepatocyte	liver:	n/a
35	chr3:47018686-47018736	HUVEC	blood vessel:	n/a
36	chr3:47018657-47018707	AG04449	skin:	fetal
37	chr3:47018657-47018707	Hepatocyte	liver:	n/a
38	chr3:47018686-47018736	SK-N-SH	brain:	n/a
39	chr3:47018657-47018707	PrEC	prostate:	n/a
40	chr3:47018686-47018736	Hela-S3	cervix:	n/a
41	chr3:47018657-47018707	HCT-116	colon:	n/a
42	chr3:47018657-47018707	Hela-S3	cervix:	n/a
43	chr3:47018686-47018736	NH-A	brain:	n/a
44	chr3:47018686-47018736	GM06990	blood:	n/a
45	chr3:47018686-47018736	AG10803	skin:	n/a
46	chr3:47018686-47018736	H1-hESC	embryonic stem cell:	embryo
47	chr3:47018657-47018707	SK-N-MC	brain:	n/a
48	chr3:47018686-47018736	AoSMC	blood vessel:	n/a
49	chr3:47018686-47018736	HCM	heart:	n/a
50	chr3:47018686-47018736	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47016641..47019456-chr3:47138519..47140806,2	K562	blood:

Variant related genes	Relation type
NBEAL2	TF binding region
CCDC12	TF binding region
CCDC12	CpG island
NBEAL2	CpG island
ENSG00000181555	Chromatin interaction

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	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS 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	25 gene(s)	inside rSNPs	diseases
3	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1009396	chr3:46994991-47048166	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
8	esv1800172	chr3:47013346-47049306	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv590209	chr3:47018214-47050784	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	nsv876757	chr3:47018214-47058057	Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	21 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	chr3:47016200-47018800	Active TSS	NHLF	lung
2	chr3:47016600-47018800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:47016600-47018800	Active TSS	HSMM	muscle
4	chr3:47016600-47019000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:47016600-47019000	Active TSS	A549	lung
6	chr3:47016800-47018800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr3:47016800-47018800	Active TSS	Muscle Satellite Cultured Cells	--
8	chr3:47016800-47018800	Active TSS	Psoas Muscle	Psoas
9	chr3:47016800-47018800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr3:47016800-47019000	Active TSS	Hela-S3	cervix
11	chr3:47017000-47018800	Active TSS	Right Ventricle	heart
12	chr3:47017000-47018800	Active TSS	NHEK	skin
13	chr3:47017000-47019000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:47017000-47019000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:47017200-47018800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:47017200-47018800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:47017200-47018800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr3:47017200-47018800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr3:47017200-47018800	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr3:47017200-47018800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr3:47017200-47018800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr3:47017200-47018800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr3:47017200-47018800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:47017200-47018800	Active TSS	Brain Angular Gyrus	brain
25	chr3:47017200-47018800	Active TSS	Brain Anterior Caudate	brain
26	chr3:47017200-47018800	Active TSS	Brain Cingulate Gyrus	brain
27	chr3:47017200-47018800	Active TSS	Brain Germinal Matrix	brain
28	chr3:47017200-47018800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:47017200-47018800	Active TSS	Colonic Mucosa	Colon
30	chr3:47017200-47018800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr3:47017200-47018800	Active TSS	Fetal Brain Female	brain
32	chr3:47017200-47018800	Active TSS	Fetal Lung	lung
33	chr3:47017200-47018800	Active TSS	Fetal Stomach	stomach
34	chr3:47017200-47018800	Active TSS	Left Ventricle	heart
35	chr3:47017200-47019200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr3:47017200-47020000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:47017400-47018800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:47017400-47018800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr3:47017400-47018800	Active TSS	Brain Substantia Nigra	brain
40	chr3:47017400-47018800	Active TSS	Fetal Kidney	kidney
41	chr3:47017400-47019000	Active TSS	Duodenum Mucosa	Duodenum
42	chr3:47017600-47018800	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr3:47017800-47018800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:47018000-47019000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:47018200-47019000	Weak transcription	Lung	lung
46	chr3:47018200-47019200	Enhancers	Fetal Brain Male	brain
47	chr3:47018200-47019200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr3:47018200-47020600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr3:47018200-47020600	Weak transcription	Aorta	Aorta
50	chr3:47018200-47020600	Enhancers	Spleen	Spleen

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