Variant report

Variant	rs574659502
Chromosome Location	chr12:49183087-49183088
allele	A/C
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	CHD2	chr12:49182327-49183683	Hela-S3	cervix:	n/a	n/a
2	MAX	chr12:49182216-49183279	ECC-1	luminal epithelium:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
3	POLR2A	chr12:49182683-49183087	HCT-116	colon:	n/a	n/a
4	GABPA	chr12:49182746-49183225	SK-N-SH	brain:	n/a	chr12:49183047-49183056
5	TEAD4	chr12:49182761-49183291	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr12:49182516-49183101	HUVEC	blood vessel:	n/a	n/a
7	SP1	chr12:49182767-49183211	H1-hESC	embryonic stem cell:	n/a	chr12:49182951-49182963 chr12:49182890-49182899 chr12:49183038-49183050 chr12:49182951-49182962 chr12:49182952-49182966 chr12:49183012-49183023 chr12:49183197-49183211 chr12:49183133-49183142 chr12:49183009-49183023 chr12:49182953-49182962
8	GABPA	chr12:49182516-49183323	MCF-7	breast:	n/a	chr12:49183264-49183273 chr12:49183047-49183056
9	POLR2A	chr12:49182373-49183101	H1-neurons	neurons:	n/a	n/a
10	MAX	chr12:49182357-49183714	HepG2	liver:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
11	TCF12	chr12:49182758-49183989	A549	lung:	n/a	chr12:49183639-49183646 chr12:49183484-49183494 chr12:49183470-49183477 chr12:49183592-49183602
12	POLR2A	chr12:49182631-49183168	HUVEC	blood vessel:	n/a	n/a
13	YY1	chr12:49182754-49183686	HepG2	liver:	n/a	chr12:49183529-49183540 chr12:49183169-49183180 chr12:49182856-49182867
14	ZBTB7A	chr12:49182795-49183094	K562	blood:	n/a	chr12:49183052-49183061
15	MAX	chr12:49182217-49183991	A549	lung:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
16	ZBTB7A	chr12:49182077-49183971	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061
17	SP1	chr12:49182670-49183223	A549	lung:	n/a	chr12:49182951-49182963 chr12:49182890-49182899 chr12:49183038-49183050 chr12:49182951-49182962 chr12:49182952-49182966 chr12:49183012-49183023 chr12:49183197-49183211 chr12:49183133-49183142 chr12:49183009-49183023 chr12:49182953-49182962
18	SIN3AK20	chr12:49182799-49183180	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr12:49182245-49183915	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr12:49182459-49183675	HepG2	liver:	n/a	n/a
21	POLR2A	chr12:49182325-49183182	MCF-7	breast:	n/a	n/a
22	CEBPD	chr12:49182631-49183132	HepG2	liver:	n/a	n/a
23	MAZ	chr12:49182291-49183213	Hela-S3	cervix:	n/a	chr12:49183055-49183065
24	SMARCB1	chr12:49181576-49183529	Hela-S3	cervix:	n/a	n/a
25	GABPA	chr12:49182627-49183158	SK-N-SH	brain:	n/a	chr12:49183047-49183056
26	NRF1	chr12:49182695-49183157	SK-N-SH	brain:	n/a	chr12:49183047-49183056
27	MAX	chr12:49182286-49183962	ECC-1	luminal epithelium:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
28	MAX	chr12:49182647-49183120	SK-N-SH	brain:	n/a	chr12:49183055-49183065
29	ZBTB7A	chr12:49183019-49183168	K562	blood:	n/a	chr12:49183052-49183061
30	HCFC1	chr12:49182114-49184467	Hela-S3	cervix:	n/a	n/a
31	GABPA	chr12:49182764-49183111	A549	lung:	n/a	chr12:49183047-49183056
32	SIN3A	chr12:49182056-49183183	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr12:49182754-49183236	SK-N-SH	brain:	n/a	chr12:49183055-49183065
34	EGR1	chr12:49182721-49183134	H1-hESC	embryonic stem cell:	n/a	chr12:49183053-49183063 chr12:49183052-49183065 chr12:49182954-49182967
35	REST	chr12:49182184-49183944	H1-neurons	neurons:	n/a	n/a
36	MAZ	chr12:49182594-49183122	HepG2	liver:	n/a	chr12:49183055-49183065
37	TCF12	chr12:49182530-49183623	ECC-1	luminal epithelium:	n/a	chr12:49183484-49183494 chr12:49183470-49183477 chr12:49183592-49183602
38	POLR2A	chr12:49182745-49183100	U87	brain:	n/a	n/a
39	POLR2A	chr12:49182109-49183722	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr12:49182751-49183100	U87	brain:	n/a	n/a
41	POLR2A	chr12:49182510-49183106	HUVEC	blood vessel:	n/a	n/a
42	CTBP2	chr12:49181988-49183226	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr12:49182684-49183297	H1-neurons	neurons:	n/a	n/a
44	ZBTB7A	chr12:49181877-49184070	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061
45	POLR2A	chr12:49182769-49183107	SK-N-SH	brain:	n/a	n/a
46	TCF12	chr12:49182272-49183741	ECC-1	luminal epithelium:	n/a	chr12:49183639-49183646 chr12:49183484-49183494 chr12:49183470-49183477 chr12:49183592-49183602
47	POLR2A	chr12:49182835-49183212	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr12:49182746-49183097	PFSK-1	brain:	n/a	n/a
49	SP1	chr12:49182764-49183155	A549	lung:	n/a	chr12:49182951-49182963 chr12:49182890-49182899 chr12:49183038-49183050 chr12:49182951-49182962 chr12:49182952-49182966 chr12:49183012-49183023 chr12:49183133-49183142 chr12:49183009-49183023 chr12:49182953-49182962
50	POLR2A	chr12:49182611-49183603	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49108937..49110842-chr12:49180917..49183089,2	MCF-7	breast:
2	chr12:49074389..49076545-chr12:49180456..49183753,3	MCF-7	breast:
3	chr12:49175402..49178124-chr12:49180679..49183666,2	K562	blood:
4	chr12:49183065..49183767-chr12:49208148..49208948,2	MCF-7	breast:
5	chr12:49178102..49185044-chr12:49204782..49211867,14	MCF-7	breast:
6	chr12:49180478..49186692-chr12:49206898..49214052,14	MCF-7	breast:
7	chr12:49182132..49185770-chr12:49202933..49205906,3	MCF-7	breast:
8	chr12:49165064..49172292-chr12:49177951..49185171,13	MCF-7	breast:
9	chr12:49110036..49111681-chr12:49181615..49184278,2	MCF-7	breast:
10	chr12:49158067..49160355-chr12:49182073..49184026,2	MCF-7	breast:

Variant related genes	Relation type
ADCY6	TF binding region
ENSG00000257660	TF binding region
ENSG00000257653	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000264201	Chromatin interaction
ENSG00000174233	Chromatin interaction
ENSG00000207467	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000139620	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3409586	chr12:49181735-49184833	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
3	esv3359848	chr12:49182310-49184858	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
4	esv3421909	chr12:49183035-49184233	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49181200-49183200	Active TSS	HSMMtube	muscle
2	chr12:49181200-49183800	Active TSS	Aorta	Aorta
3	chr12:49181400-49183600	Active TSS	HSMM	muscle
4	chr12:49181600-49183600	Active TSS	Fetal Heart	heart
5	chr12:49181600-49183600	Active TSS	Fetal Intestine Small	intestine
6	chr12:49181600-49183600	Active TSS	Rectal Smooth Muscle	rectum
7	chr12:49181600-49183800	Active TSS	Fetal Kidney	kidney
8	chr12:49181600-49184200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:49181800-49183200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:49181800-49183400	Active TSS	Ovary	ovary
11	chr12:49181800-49183600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:49181800-49183600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:49181800-49183600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:49181800-49183600	Active TSS	Left Ventricle	heart
15	chr12:49181800-49183600	Active TSS	NHLF	lung
16	chr12:49181800-49183800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:49181800-49183800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:49181800-49183800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:49181800-49183800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:49181800-49183800	Active TSS	Brain Angular Gyrus	brain
21	chr12:49181800-49183800	Active TSS	Fetal Intestine Large	intestine
22	chr12:49181800-49183800	Active TSS	Gastric	stomach
23	chr12:49181800-49183800	Active TSS	Right Atrium	heart
24	chr12:49181800-49183800	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr12:49181800-49184000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr12:49181800-49184000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:49181800-49184200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:49182000-49183200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:49182000-49183200	Active TSS	Fetal Lung	lung
30	chr12:49182000-49183200	Active TSS	Spleen	Spleen
31	chr12:49182000-49183400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:49182000-49183600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:49182000-49183600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:49182000-49183600	Active TSS	Brain Germinal Matrix	brain
35	chr12:49182000-49183600	Active TSS	Colonic Mucosa	Colon
36	chr12:49182000-49183600	Active TSS	Lung	lung
37	chr12:49182000-49183600	Active TSS	Pancreas	Pancrea
38	chr12:49182000-49183600	Active TSS	Stomach Mucosa	stomach
39	chr12:49182000-49183600	Active TSS	HepG2	liver
40	chr12:49182000-49183600	Active TSS	Osteobl	bone
41	chr12:49182000-49183800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr12:49182000-49183800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr12:49182000-49183800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:49182000-49183800	Active TSS	NH-A	brain
45	chr12:49182000-49183800	Active TSS	NHDF-Ad	bronchial
46	chr12:49182000-49184000	Active TSS	Muscle Satellite Cultured Cells	--
47	chr12:49182000-49184200	Active TSS	Brain Substantia Nigra	brain
48	chr12:49182200-49183400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:49182200-49183400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:49182200-49183400	Active TSS	Placenta Amnion	Placenta Amnion

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