Variant report

Variant	rs74939037
Chromosome Location	chr3:47018528-47018529
allele	C/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	ELK1	chr3:47017873-47018605	GM12878	blood:	n/a	n/a
2	IRF1	chr3:47017680-47018699	K562	blood:	n/a	n/a
3	NFYA	chr3:47017803-47018644	K562	blood:	n/a	n/a
4	NR2F2	chr3:47018402-47018712	K562	blood:	n/a	n/a
5	FOS	chr3:47018209-47018792	MCF10A-Er-Src	breast:	n/a	chr3:47018623-47018634 chr3:47018622-47018630 chr3:47018620-47018631 chr3:47018620-47018632
6	TEAD4	chr3:47018386-47018745	K562	blood:	n/a	n/a
7	UBTF	chr3:47018453-47018740	K562	blood:	n/a	n/a
8	PBX3	chr3:47017742-47018770	SK-N-SH	brain:	n/a	chr3:47018339-47018348
9	CCNT2	chr3:47018504-47018642	K562	blood:	n/a	n/a
10	SRF	chr3:47018378-47018677	GM12878	blood:	n/a	n/a
11	BHLHE40	chr3:47017672-47018728	K562	blood:	n/a	n/a
12	JUND	chr3:47017778-47018765	Hela-S3	cervix:	n/a	chr3:47018623-47018634 chr3:47018622-47018630 chr3:47018620-47018632 chr3:47018620-47018631
13	SP1	chr3:47018048-47018717	GM12878	blood:	n/a	chr3:47018397-47018408 chr3:47018382-47018393 chr3:47018337-47018358
14	MAX	chr3:47018393-47018797	K562	blood:	n/a	chr3:47018622-47018631
15	RUNX3	chr3:47018371-47018731	GM12878	blood:	n/a	n/a
16	ZMIZ1	chr3:47017611-47018706	K562	blood:	n/a	n/a
17	TEAD4	chr3:47018008-47018760	ECC-1	luminal epithelium:	n/a	n/a
18	ETS1	chr3:47018376-47018688	GM12878	blood:	n/a	n/a
19	YY1	chr3:47017601-47018672	GM12878	blood:	n/a	n/a
20	HEY1	chr3:47018453-47018735	K562	blood:	n/a	n/a
21	USF2	chr3:47018447-47018700	Hela-S3	cervix:	n/a	n/a
22	MAFF	chr3:47018158-47018768	K562	blood:	n/a	n/a
23	ATF3	chr3:47018451-47018714	K562	blood:	n/a	n/a
24	YY1	chr3:47018412-47018692	H1-hESC	embryonic stem cell:	n/a	n/a
25	SP1	chr3:47017965-47018760	H1-hESC	embryonic stem cell:	n/a	chr3:47018397-47018408 chr3:47018382-47018393 chr3:47018337-47018358
26	CHD2	chr3:47017776-47018592	K562	blood:	n/a	n/a
27	POLR2A	chr3:47017651-47018727	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr3:47018485-47018717	H1-hESC	embryonic stem cell:	n/a	n/a
29	SRF	chr3:47018394-47018643	HepG2	liver:	n/a	n/a
30	POLR2A	chr3:47017668-47018671	GM19193	blood:	n/a	n/a
31	SP4	chr3:47017807-47018720	H1-hESC	embryonic stem cell:	n/a	chr3:47018397-47018408 chr3:47018382-47018393
32	SP1	chr3:47017955-47018741	H1-hESC	embryonic stem cell:	n/a	chr3:47018397-47018408 chr3:47018382-47018393 chr3:47018337-47018358
33	NRF1	chr3:47017727-47018593	Hela-S3	cervix:	n/a	chr3:47017991-47018002 chr3:47018009-47018020
34	REST	chr3:47018364-47018702	A549	lung:	n/a	n/a
35	SIX5	chr3:47018364-47018627	A549	lung:	n/a	n/a
36	ZKSCAN1	chr3:47017728-47018672	Hela-S3	cervix:	n/a	n/a
37	MAZ	chr3:47017484-47018740	IMR90	lung:	n/a	chr3:47018622-47018631
38	MAX	chr3:47017636-47018739	MCF-7	breast:	n/a	chr3:47018622-47018631
39	TAF1	chr3:47017605-47018743	K562	blood:	n/a	n/a
40	STAT3	chr3:47018135-47018589	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr3:47018394-47018730	Hela-S3	cervix:	n/a	n/a
42	MYC	chr3:47018379-47018661	HepG2	liver:	n/a	chr3:47018622-47018631
43	ELF1	chr3:47017762-47018580	K562	blood:	n/a	n/a
44	SP1	chr3:47017719-47018757	A549	lung:	n/a	chr3:47018397-47018408 chr3:47018382-47018393 chr3:47018337-47018358
45	PML	chr3:47017421-47018735	GM12878	blood:	n/a	chr3:47018623-47018632
46	EP300	chr3:47017727-47018742	K562	blood:	n/a	n/a
47	SIN3A	chr3:47017657-47018671	GM12878	blood:	n/a	n/a
48	MXI1	chr3:47017553-47018618	GM12878	blood:	n/a	n/a
49	MYC	chr3:47017732-47018740	K562	blood:	n/a	chr3:47018622-47018631
50	WRNIP1	chr3:47018461-47018665	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:47018482-47018532	HCT-116	colon:	n/a
2	chr3:47018482-47018532	CMK	blood:	n/a
3	chr3:47018482-47018532	PrEC	prostate:	n/a
4	chr3:47018482-47018532	AoSMC	blood vessel:	n/a
5	chr3:47018482-47018532	NH-A	brain:	n/a
6	chr3:47018482-47018532	HRCEpiC	kidney:	n/a
7	chr3:47018482-47018532	Hepatocyte	liver:	n/a
8	chr3:47018482-47018532	PFSK-1	brain:	n/a
9	chr3:47018482-47018532	Jurkat	blood:	n/a
10	chr3:47018482-47018532	HEK293	kidney:	embryo
11	chr3:47018482-47018532	MCF-7	breast:	n/a
12	chr3:47018482-47018532	HIPEpiC	eye:	n/a
13	chr3:47018482-47018532	BJ	skin:	n/a
14	chr3:47018482-47018532	HPAEpiC	pulmonary alveolar:	n/a
15	chr3:47018482-47018532	A549	lung:	n/a
16	chr3:47018482-47018532	NHDF-neo	bronchial:	n/a
17	chr3:47018482-47018532	HL-60	blood:	n/a
18	chr3:47018482-47018532	HMEC	breast:	n/a
19	chr3:47018482-47018532	HEEpiC	esophagus:	n/a
20	chr3:47018482-47018532	NT2-D1	testis:	n/a
21	chr3:47018482-47018532	RPTEC	kidney:	n/a
22	chr3:47018482-47018532	SAEC	small airway:	n/a
23	chr3:47018482-47018532	GM19239	blood:	n/a
24	chr3:47018482-47018532	Hela-S3	cervix:	n/a
25	chr3:47018482-47018532	PANC-1	pancreas:	n/a
26	chr3:47018482-47018532	HCF	heart:	n/a
27	chr3:47018482-47018532	GM12891	blood:	n/a
28	chr3:47018482-47018532	AG09319	gingival:	n/a
29	chr3:47018482-47018532	MCF10A-Er-Src	breast:	n/a
30	chr3:47018482-47018532	ProgFib	skin:	n/a
31	chr3:47018482-47018532	NB4	blood:	n/a
32	chr3:47018482-47018532	K562	blood:	n/a
33	chr3:47018482-47018532	SK-N-SH_RA	brain:	n/a
34	chr3:47018482-47018532	SK-N-SH	brain:	n/a
35	chr3:47018482-47018532	U87	brain:	n/a
36	chr3:47018482-47018532	ECC-1	luminal epithelium:	n/a
37	chr3:47018482-47018532	HepG2	liver:	n/a
38	chr3:47018482-47018532	AG10803	skin:	n/a
39	chr3:47018482-47018532	HAEpiC	amniotic membrane:	n/a
40	chr3:47018482-47018532	Caco-2	colon:	n/a
41	chr3:47018482-47018532	HNPCEpiC	eye:	n/a
42	chr3:47018482-47018532	HRE	kidney:	n/a
43	chr3:47018482-47018532	AG09309	skin:	n/a
44	chr3:47018482-47018532	AG04449	skin:	fetal
45	chr3:47018482-47018532	NHBE	bronchial:	n/a
46	chr3:47018482-47018532	AG04450	lung:	fetal
47	chr3:47018482-47018532	GM12892	blood:	n/a
48	chr3:47018482-47018532	HCM	heart:	n/a
49	chr3:47018482-47018532	HCPEpiC	choroid plexus:	n/a
50	chr3:47018482-47018532	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47016641..47019456-chr3:47138519..47140806,2	K562	blood:
2	chr3:47017718..47018667-chr7:144532471..144533462,2	Hela-S3	cervix:

Variant related genes	Relation type
NBEAL2	TF binding region
CCDC12	TF binding region
CCDC12	CpG island
NBEAL2	CpG island
ENSG00000196511	Chromatin interaction
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	chr3:47016000-47018600	Active TSS	GM12878-XiMat	blood
2	chr3:47016200-47018800	Active TSS	NHLF	lung
3	chr3:47016600-47018600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:47016600-47018600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:47016600-47018800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:47016600-47018800	Active TSS	HSMM	muscle
7	chr3:47016600-47019000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:47016600-47019000	Active TSS	A549	lung
9	chr3:47016800-47018600	Active TSS	Fetal Intestine Small	intestine
10	chr3:47016800-47018600	Active TSS	Stomach Smooth Muscle	stomach
11	chr3:47016800-47018800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr3:47016800-47018800	Active TSS	Muscle Satellite Cultured Cells	--
13	chr3:47016800-47018800	Active TSS	Psoas Muscle	Psoas
14	chr3:47016800-47018800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr3:47016800-47019000	Active TSS	Hela-S3	cervix
16	chr3:47017000-47018600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:47017000-47018600	Active TSS	Liver	Liver
18	chr3:47017000-47018600	Active TSS	HMEC	breast
19	chr3:47017000-47018600	Active TSS	K562	blood
20	chr3:47017000-47018800	Active TSS	Right Ventricle	heart
21	chr3:47017000-47018800	Active TSS	NHEK	skin
22	chr3:47017000-47019000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:47017000-47019000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:47017200-47018600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:47017200-47018600	Active TSS	Primary T cells from cord blood	blood
26	chr3:47017200-47018600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:47017200-47018600	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr3:47017200-47018600	Active TSS	Brain Hippocampus Middle	brain
29	chr3:47017200-47018600	Active TSS	Colon Smooth Muscle	Colon
30	chr3:47017200-47018600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr3:47017200-47018600	Active TSS	Pancreas	Pancrea
32	chr3:47017200-47018600	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr3:47017200-47018600	Active TSS	Rectal Smooth Muscle	rectum
34	chr3:47017200-47018800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:47017200-47018800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:47017200-47018800	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr3:47017200-47018800	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr3:47017200-47018800	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr3:47017200-47018800	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr3:47017200-47018800	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr3:47017200-47018800	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr3:47017200-47018800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:47017200-47018800	Active TSS	Brain Angular Gyrus	brain
44	chr3:47017200-47018800	Active TSS	Brain Anterior Caudate	brain
45	chr3:47017200-47018800	Active TSS	Brain Cingulate Gyrus	brain
46	chr3:47017200-47018800	Active TSS	Brain Germinal Matrix	brain
47	chr3:47017200-47018800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:47017200-47018800	Active TSS	Colonic Mucosa	Colon
49	chr3:47017200-47018800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr3:47017200-47018800	Active TSS	Fetal Brain Female	brain

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