Variant report

Variant	rs61758486
Chromosome Location	chr4:47841349-47841350
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	PML	chr4:47841112-47841675	GM12878	blood:	n/a	n/a
2	RAD21	chr4:47841298-47841716	H1-hESC	embryonic stem cell:	n/a	chr4:47841574-47841584 chr4:47841573-47841586 chr4:47841570-47841589 chr4:47841576-47841585 chr4:47841572-47841584
3	SMC3	chr4:47841344-47841771	GM12878	blood:	n/a	chr4:47841574-47841588
4	EP300	chr4:47841317-47841682	GM12878	blood:	n/a	chr4:47841559-47841573
5	ATF2	chr4:47841134-47841615	GM12878	blood:	n/a	n/a
6	BATF	chr4:47841192-47841573	GM12878	blood:	n/a	n/a
7	SPI1	chr4:47841286-47841565	GM12878	blood:	n/a	n/a
8	IRF4	chr4:47841184-47841643	GM12878	blood:	n/a	n/a
9	RUNX3	chr4:47841209-47841678	GM12878	blood:	n/a	n/a
10	RAD21	chr4:47841347-47841769	HepG2	liver:	n/a	chr4:47841574-47841584 chr4:47841573-47841586 chr4:47841570-47841589 chr4:47841576-47841585 chr4:47841572-47841584
11	CTCF	chr4:47841228-47841907	SK-N-SH	brain:	n/a	chr4:47841572-47841590 chr4:47841575-47841585 chr4:47841567-47841588 chr4:47841578-47841587 chr4:47841573-47841589 chr4:47841574-47841587
12	NFIC	chr4:47841111-47841715	GM12878	blood:	n/a	n/a
13	SMC3	chr4:47841181-47841888	SK-N-SH	brain:	n/a	chr4:47841574-47841588
14	CTCF	chr4:47841260-47841410	AoAF	blood vessel:	n/a	n/a
15	BCLAF1	chr4:47841303-47841783	GM12878	blood:	n/a	chr4:47841559-47841568
16	CTCF	chr4:47841340-47841490	HCM	heart:	n/a	n/a
17	NFATC1	chr4:47841127-47841803	GM12878	blood:	n/a	n/a
18	RAD21	chr4:47841338-47841669	MCF-7	breast:	n/a	chr4:47841574-47841584 chr4:47841573-47841586 chr4:47841570-47841589 chr4:47841576-47841585 chr4:47841572-47841584
19	POLR2A	chr4:47837517-47841863	K562	blood:	n/a	n/a
20	RAD21	chr4:47841200-47841861	SK-N-SH	brain:	n/a	chr4:47841574-47841584 chr4:47841573-47841586 chr4:47841570-47841589 chr4:47841576-47841585 chr4:47841572-47841584
21	RAD21	chr4:47841233-47841777	GM12878	blood:	n/a	chr4:47841574-47841584 chr4:47841573-47841586 chr4:47841570-47841589 chr4:47841576-47841585 chr4:47841572-47841584
22	NFATC1	chr4:47841235-47841656	GM12878	blood:	n/a	n/a
23	WRNIP1	chr4:47841327-47841668	GM12878	blood:	n/a	n/a
24	EBF1	chr4:47841297-47841632	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:47841314-47841364	NHDF-neo	bronchial:	n/a
2	chr4:47841314-47841364	GM12878	blood:	n/a
3	chr4:47841314-47841364	PFSK-1	brain:	n/a
4	chr4:47841314-47841364	AG04450	lung:	fetal
5	chr4:47841314-47841364	IMR90	lung:	fetal
6	chr4:47841314-47841364	HepG2	liver:	n/a
7	chr4:47841314-47841364	T-47D	breast:	n/a
8	chr4:47841314-47841364	MCF10A-Er-Src	breast:	n/a
9	chr4:47841314-47841364	RPTEC	kidney:	n/a
10	chr4:47841314-47841364	A549	lung:	n/a
11	chr4:47841314-47841364	SK-N-SH_RA	brain:	n/a
12	chr4:47841314-47841364	AG10803	skin:	n/a
13	chr4:47841314-47841364	Hepatocyte	liver:	n/a
14	chr4:47841314-47841364	Hela-S3	cervix:	n/a
15	chr4:47841314-47841364	PrEC	prostate:	n/a
16	chr4:47841314-47841364	HEEpiC	esophagus:	n/a
17	chr4:47841314-47841364	AG04449	skin:	fetal
18	chr4:47841314-47841364	ProgFib	skin:	n/a
19	chr4:47841314-47841364	BJ	skin:	n/a
20	chr4:47841314-47841364	HCM	heart:	n/a
21	chr4:47841314-47841364	HNPCEpiC	eye:	n/a
22	chr4:47841314-47841364	HMEC	breast:	n/a
23	chr4:47841314-47841364	SK-N-MC	brain:	n/a
24	chr4:47841314-47841364	HAEpiC	amniotic membrane:	n/a
25	chr4:47841314-47841364	NH-A	brain:	n/a
26	chr4:47841314-47841364	HCF	heart:	n/a
27	chr4:47841314-47841364	LNCaP	prostate:	n/a
28	chr4:47841314-47841364	HCT-116	colon:	n/a
29	chr4:47841314-47841364	SK-N-SH	brain:	n/a
30	chr4:47841314-47841364	NT2-D1	testis:	n/a
31	chr4:47841314-47841364	HL-60	blood:	n/a
32	chr4:47841314-47841364	AoSMC	blood vessel:	n/a
33	chr4:47841314-47841364	GM12891	blood:	n/a
34	chr4:47841314-47841364	HUVEC	blood vessel:	n/a
35	chr4:47841314-47841364	AG09309	skin:	n/a
36	chr4:47841314-47841364	NHBE	bronchial:	n/a
37	chr4:47841314-47841364	SAEC	small airway:	n/a
38	chr4:47841314-47841364	Jurkat	blood:	n/a
39	chr4:47841314-47841364	MCF-7	breast:	n/a
40	chr4:47841314-47841364	NB4	blood:	n/a
41	chr4:47841314-47841364	ovcar-3	ovarian:	n/a
42	chr4:47841314-47841364	ECC-1	luminal epithelium:	n/a
43	chr4:47841314-47841364	GM06990	blood:	n/a
44	chr4:47841314-47841364	HCPEpiC	choroid plexus:	n/a
45	chr4:47841314-47841364	BE2_C	brain:	n/a
46	chr4:47841314-47841364	PANC-1	pancreas:	n/a
47	chr4:47841314-47841364	HRCEpiC	kidney:	n/a
48	chr4:47841314-47841364	SKMC	muscle:	n/a
49	chr4:47841314-47841364	K562	blood:	n/a
50	chr4:47841314-47841364	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:47707683..47708302-chr4:47841300..47841809,2	MCF-7	breast:
2	chr4:47837985..47840233-chr4:47840589..47843103,2	MCF-7	breast:
3	chr4:47688307..47688945-chr4:47841076..47841947,3	MCF-7	breast:
4	chr4:47706458..47708260-chr4:47841005..47842113,10	MCF-7	breast:

Variant related genes	Relation type
CORIN	TF binding region
CORIN	CpG island
ENSG00000145244	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17573449	0.95[EUR][1000 genomes]
rs73244445	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008515	chr4:47488431-47906835	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948568	chr4:47488431-47907524	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1004939	chr4:47488573-47901460	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537080	chr4:47488573-47901460	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv997471	chr4:47489412-47895223	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv998892	chr4:47493552-47863354	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv537081	chr4:47493552-47863354	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv1000337	chr4:47493907-47902019	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	10 gene(s)	inside rSNPs	diseases
9	nsv594118	chr4:47560386-47917730	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
10	nsv829924	chr4:47670905-47866665	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv4328	chr4:47816467-47862253	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47838800-47859800	Weak transcription	Hela-S3	cervix
2	chr4:47839200-47850000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:47839200-47853800	Weak transcription	HSMMtube	muscle
4	chr4:47839400-47846000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:47839600-47845800	Weak transcription	NHDF-Ad	bronchial
6	chr4:47839800-47845400	Weak transcription	HMEC	breast
7	chr4:47839800-47850000	Weak transcription	Gastric	stomach
8	chr4:47839800-47874800	Weak transcription	A549	lung
9	chr4:47839800-47875000	Weak transcription	Brain Angular Gyrus	brain
10	chr4:47839800-47885800	Weak transcription	Lung	lung
11	chr4:47840000-47841400	Enhancers	Primary B cells from peripheral blood	blood
12	chr4:47840000-47844400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:47840000-47844400	Weak transcription	Ovary	ovary
14	chr4:47840000-47844800	Weak transcription	HSMM	muscle
15	chr4:47840000-47848800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:47840000-47852600	Weak transcription	K562	blood
17	chr4:47840000-47852800	Weak transcription	Brain Anterior Caudate	brain
18	chr4:47840000-47854600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:47840000-47855600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:47840000-47874600	Weak transcription	Brain Substantia Nigra	brain
21	chr4:47840000-47874800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:47840000-47875400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:47840000-47875600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:47840000-47886800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:47840200-47841400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:47840200-47841400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr4:47840200-47841400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:47840200-47841400	Enhancers	GM12878-XiMat	blood
29	chr4:47840200-47841600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:47840200-47841600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr4:47840200-47841800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr4:47840200-47843600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:47840200-47845600	Weak transcription	Dnd41	blood
34	chr4:47840200-47845800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:47840200-47845800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr4:47840200-47845800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:47840200-47846000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:47840200-47846000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:47840200-47846400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:47840200-47846600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:47840200-47846600	Weak transcription	Fetal Stomach	stomach
42	chr4:47840200-47849400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr4:47840200-47852800	Weak transcription	Fetal Kidney	kidney
44	chr4:47840200-47854000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr4:47840200-47855600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:47840200-47866600	Weak transcription	Esophagus	oesophagus
47	chr4:47840200-47867000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:47840200-47869600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:47840200-47874600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:47840200-47874800	Weak transcription	Psoas Muscle	Psoas

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