Variant report

Variant	rs147640056
Chromosome Location	chr12:56122641-56122642
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	PML	chr12:56122580-56123625	MCF-7	breast:	n/a	n/a
2	TAF1	chr12:56122570-56123223	PFSK-1	brain:	n/a	n/a
3	ELF1	chr12:56122537-56123331	K562	blood:	n/a	chr12:56122768-56122780 chr12:56122979-56122990
4	POLR2A	chr12:56122268-56123777	MCF10A-Er-Src	breast:	n/a	n/a
5	EGR1	chr12:56121999-56123801	HCT-116	colon:	n/a	chr12:56122149-56122159 chr12:56122310-56122323 chr12:56122996-56123006 chr12:56122996-56123005 chr12:56122992-56123006 chr12:56122313-56122323 chr12:56122532-56122542 chr12:56122995-56123008 chr12:56122994-56123009 chr12:56122344-56122354 chr12:56122995-56123008 chr12:56122995-56123008 chr12:56122996-56123007 chr12:56123533-56123547
6	ETS1	chr12:56122548-56123334	K562	blood:	n/a	chr12:56122670-56122684 chr12:56122857-56122868
7	POLR2A	chr12:56122519-56124246	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:56122586-56122816	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:56122512-56123874	MCF-7	breast:	n/a	n/a
10	TAF7	chr12:56122588-56123270	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZBTB7A	chr12:56122591-56123106	HepG2	liver:	n/a	chr12:56122991-56123002 chr12:56123043-56123051
12	ZMIZ1	chr12:56122619-56123221	K562	blood:	n/a	n/a
13	POLR2A	chr12:56122551-56123691	A549	lung:	n/a	n/a
14	CREB1	chr12:56122634-56123782	K562	blood:	n/a	n/a
15	E2F6	chr12:56122502-56122664	K562	blood:	n/a	n/a
16	POLR2A	chr12:56121103-56124569	IMR90	lung:	n/a	n/a
17	USF1	chr12:56122641-56123224	H1-hESC	embryonic stem cell:	n/a	chr12:56122964-56122975 chr12:56122905-56122921 chr12:56122887-56122898
18	MAZ	chr12:56122093-56124163	GM12878	blood:	n/a	chr12:56122244-56122254 chr12:56122966-56122975 chr12:56122888-56122897 chr12:56122966-56122976 chr12:56122964-56122977 chr12:56122965-56122976 chr12:56122724-56122734 chr12:56122964-56122977 chr12:56122965-56122975 chr12:56122965-56122975 chr12:56122965-56122976 chr12:56122964-56122977 chr12:56122346-56122356 chr12:56122966-56122976 chr12:56122150-56122160 chr12:56122965-56122976
19	POLR2A	chr12:56113532-56124497	U87	brain:	n/a	n/a
20	POLR2A	chr12:56122520-56124060	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr12:56122556-56123796	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr12:56122568-56123920	GM12891	blood:	n/a	n/a
23	POLR2A	chr12:56122608-56123972	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:56122553-56123259	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:56121349-56124018	K562	blood:	n/a	n/a
26	CHD1	chr12:56120323-56124349	IMR90	lung:	n/a	n/a
27	TAF1	chr12:56122529-56123725	K562	blood:	n/a	n/a
28	POLR2A	chr12:56121588-56123832	Hela-S3	cervix:	n/a	n/a
29	PML	chr12:56122560-56123684	MCF-7	breast:	n/a	n/a
30	HEY1	chr12:56122534-56123730	HepG2	liver:	n/a	chr12:56122773-56122788 chr12:56123092-56123107
31	SIN3A	chr12:56121558-56124313	H1-hESC	embryonic stem cell:	n/a	chr12:56122139-56122150 chr12:56122965-56122974 chr12:56123576-56123584 chr12:56122967-56122976 chr12:56122342-56122353
32	FOXM1	chr12:56122629-56123267	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:56122579-56123811	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr12:56122511-56122693	K562	blood:	n/a	n/a
35	ELF1	chr12:56121328-56124343	GM12878	blood:	n/a	chr12:56122496-56122508 chr12:56122347-56122359 chr12:56121537-56121548 chr12:56122768-56122780 chr12:56122979-56122990
36	TAF1	chr12:56122592-56123313	HepG2	liver:	n/a	n/a
37	POLR2A	chr12:56122253-56124272	PFSK-1	brain:	n/a	n/a
38	PML	chr12:56122472-56124145	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:56122522-56123698	K562	blood:	n/a	n/a
40	SMARCB1	chr12:56121492-56123851	Hela-S3	cervix:	n/a	chr12:56122915-56122924
41	USF1	chr12:56122521-56123775	HCT-116	colon:	n/a	chr12:56122964-56122975 chr12:56122905-56122921 chr12:56122887-56122898
42	CTCF	chr12:56122626-56122869	T-47D	breast:	n/a	n/a
43	TCF12	chr12:56121319-56124183	A549	lung:	n/a	chr12:56122619-56122629
44	POLR2A	chr12:56122542-56123241	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr12:56122536-56123305	GM12878	blood:	n/a	n/a
46	MXI1	chr12:56121169-56124795	SK-N-SH	brain:	n/a	chr12:56122967-56122976 chr12:56122965-56122974 chr12:56122967-56122976 chr12:56122965-56122974
47	POLR2A	chr12:56121554-56123736	ECC-1	luminal epithelium:	n/a	n/a
48	TAF1	chr12:56121822-56123692	ECC-1	luminal epithelium:	n/a	n/a
49	YY1	chr12:56122630-56123297	K562	blood:	n/a	chr12:56122723-56122732
50	PBX3	chr12:56122605-56123889	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56122637-56122687	NHBE	bronchial:	n/a
2	chr12:56122634-56122684	Hepatocyte	liver:	n/a
3	chr12:56122634-56122684	MCF-7	breast:	n/a
4	chr12:56122637-56122687	PANC-1	pancreas:	n/a
5	chr12:56122637-56122687	H1-hESC	embryonic stem cell:	embryo
6	chr12:56122634-56122684	AG09319	gingival:	n/a
7	chr12:56122637-56122687	RPTEC	kidney:	n/a
8	chr12:56122634-56122684	SK-N-SH	brain:	n/a
9	chr12:56122634-56122684	AG04450	lung:	fetal
10	chr12:56122637-56122687	HEEpiC	esophagus:	n/a
11	chr12:56122634-56122684	GM06990	blood:	n/a
12	chr12:56122637-56122687	GM12878	blood:	n/a
13	chr12:56122634-56122684	NB4	blood:	n/a
14	chr12:56122637-56122687	NH-A	brain:	n/a
15	chr12:56122637-56122687	NT2-D1	testis:	n/a
16	chr12:56122634-56122684	HAEpiC	amniotic membrane:	n/a
17	chr12:56122637-56122687	HUVEC	blood vessel:	n/a
18	chr12:56122634-56122684	HPAEpiC	pulmonary alveolar:	n/a
19	chr12:56122634-56122684	T-47D	breast:	n/a
20	chr12:56122634-56122684	ProgFib	skin:	n/a
21	chr12:56122637-56122687	AG09319	gingival:	n/a
22	chr12:56122634-56122684	HL-60	blood:	n/a
23	chr12:56122634-56122684	HUVEC	blood vessel:	n/a
24	chr12:56122637-56122687	HL-60	blood:	n/a
25	chr12:56122637-56122687	Jurkat	blood:	n/a
26	chr12:56122634-56122684	SK-N-SH_RA	brain:	n/a
27	chr12:56122637-56122687	HIPEpiC	eye:	n/a
28	chr12:56122634-56122684	AG10803	skin:	n/a
29	chr12:56122634-56122684	NHDF-neo	bronchial:	n/a
30	chr12:56122637-56122687	ECC-1	luminal epithelium:	n/a
31	chr12:56122637-56122687	GM19239	blood:	n/a
32	chr12:56122634-56122684	PFSK-1	brain:	n/a
33	chr12:56122637-56122687	AG10803	skin:	n/a
34	chr12:56122634-56122684	HIPEpiC	eye:	n/a
35	chr12:56122637-56122687	HPAEpiC	pulmonary alveolar:	n/a
36	chr12:56122634-56122684	NH-A	brain:	n/a
37	chr12:56122637-56122687	SK-N-SH	brain:	n/a
38	chr12:56122637-56122687	CMK	blood:	n/a
39	chr12:56122637-56122687	HCM	heart:	n/a
40	chr12:56122634-56122684	Jurkat	blood:	n/a
41	chr12:56122637-56122687	U87	brain:	n/a
42	chr12:56122637-56122687	NB4	blood:	n/a
43	chr12:56122634-56122684	GM12892	blood:	n/a
44	chr12:56122637-56122687	SAEC	small airway:	n/a
45	chr12:56122634-56122684	Caco-2	colon:	n/a
46	chr12:56122634-56122684	HNPCEpiC	eye:	n/a
47	chr12:56122637-56122687	HAEpiC	amniotic membrane:	n/a
48	chr12:56122634-56122684	HCF	heart:	n/a
49	chr12:56122637-56122687	A549	lung:	n/a
50	chr12:56122634-56122684	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56121253..56122830-chr12:56553054..56555339,2	MCF-7	breast:
2	chr10:74033321..74034042-chr12:56122197..56122871,2	Hela-S3	cervix:
3	chr12:56122088..56125310-chr12:56509016..56512267,4	MCF-7	breast:
4	chr12:56109904..56110634-chr12:56122400..56123493,3	Hela-S3	cervix:
5	chr12:56119665..56125098-chr12:56220794..56225708,11	MCF-7	breast:
6	chr12:56122473..56123456-chr12:120730401..120731352,2	Hela-S3	cervix:
7	chr12:56120003..56122736-chr12:56659216..56661326,3	K562	blood:
8	chr12:56121779..56124068-chr12:56319367..56323030,5	K562	blood:
9	chr12:56120093..56124486-chr12:56434488..56437037,3	K562	blood:
10	chr12:56120864..56122982-chr12:56435772..56437272,2	MCF-7	breast:
11	chr12:56121335..56123958-chr12:56496918..56499786,2	K562	blood:
12	chr12:56120851..56123825-chr12:56659216..56662167,3	K562	blood:
13	chr12:56117197..56125255-chr12:56135299..56142277,21	K562	blood:
14	chr12:56121796..56124636-chr12:56320580..56323901,5	MCF-7	breast:
15	chr12:56098994..56103683-chr12:56119699..56126107,8	MCF-7	breast:
16	chr12:56121086..56122985-chr12:56327062..56330070,3	MCF-7	breast:
17	chr12:56120734..56123554-chr12:56508983..56512643,4	K562	blood:
18	chr12:56122193..56124805-chr12:56319367..56323067,7	K562	blood:
19	chr12:56104896..56106917-chr12:56120568..56123344,2	MCF-7	breast:
20	chr12:56122056..56124298-chr12:56209901..56211592,3	MCF-7	breast:
21	chr12:56074143..56076540-chr12:56121933..56124293,2	MCF-7	breast:
22	chr12:56120240..56124369-chr12:56508983..56513755,7	K562	blood:
23	chr12:56122039..56122873-chr3:174158485..174159158,2	Hela-S3	cervix:
24	chr12:56120591..56123197-chr12:56472700..56474357,3	MCF-7	breast:
25	chr12:56122006..56124318-chr12:56366555..56368429,2	MCF-7	breast:
26	chr12:56120533..56123958-chr12:56496918..56499602,3	K562	blood:
27	chr12:56122035..56125892-chr12:56210581..56213887,4	K562	blood:
28	chr12:56119392..56124555-chr12:56134719..56139155,10	MCF-7	breast:
29	chr12:56118873..56123597-chr12:56135421..56141775,11	K562	blood:
30	chr12:56122262..56123103-chr9:75766371..75767338,2	Hela-S3	cervix:
31	chr12:56120972..56124195-chr12:56135682..56138639,8	MCF-7	breast:
32	chr12:56122094..56122749-chr15:66796752..66797619,2	Hela-S3	cervix:
33	chr12:56121261..56123274-chr12:56389263..56391155,2	K562	blood:
34	chr1:86046432..86047170-chr12:56122507..56123451,2	Hela-S3	cervix:
35	chr12:56121418..56123151-chr12:56510609..56512159,2	MCF-7	breast:
36	chr11:118965821..118966636-chr12:56122320..56122897,2	MCF-7	breast:
37	chr12:56120587..56125243-chr12:56320195..56323478,6	MCF-7	breast:
38	chr12:56099553..56102772-chr12:56120884..56124385,4	K562	blood:
39	chr12:56121691..56123442-chr12:56362303..56365050,2	MCF-7	breast:
40	chr12:56119294..56126638-chr12:56434111..56441706,13	K562	blood:
41	chr12:56121599..56124065-chr12:56209598..56212420,4	MCF-7	breast:
42	chr12:56121284..56123165-chr12:56709581..56711185,2	K562	blood:

Variant related genes	Relation type
ENSG00000258056	TF binding region
CD63	TF binding region
CD63	CpG island
ENSG00000258056	CpG island
ENSG00000135046	Chromatin interaction
ENSG00000170439	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000258311	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000135441	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000135469	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000174442	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000142871	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000170515	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000188486	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000258345	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000135424	Chromatin interaction
ENSG00000177694	Chromatin interaction
ENSG00000174444	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000135482	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525231	chr12:56076919-56124332	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh 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	69 gene(s)	inside rSNPs	diseases
2	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv469410	chr12:56098038-56170893	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv559004	chr12:56098038-56170893	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv3406101	chr12:56121510-56124058	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	56 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	chr12:56121000-56123600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:56121000-56124000	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr12:56121000-56124200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:56121200-56123600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:56121200-56123800	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr12:56121200-56124000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr12:56121200-56124000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:56121200-56124000	Active TSS	Aorta	Aorta
9	chr12:56121200-56124000	Active TSS	Ovary	ovary
10	chr12:56121200-56124200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:56121200-56124200	Active TSS	HSMMtube	muscle
12	chr12:56121200-56124400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr12:56121200-56124400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr12:56121200-56125200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:56121400-56123000	Active TSS	NH-A	brain
16	chr12:56121400-56123600	Active TSS	Fetal Intestine Large	intestine
17	chr12:56121400-56123800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:56121400-56123800	Active TSS	Psoas Muscle	Psoas
19	chr12:56121400-56123800	Active TSS	NHDF-Ad	bronchial
20	chr12:56121400-56124000	Active TSS	Gastric	stomach
21	chr12:56121400-56124200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr12:56121400-56124400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:56121600-56123200	Active TSS	HMEC	breast
24	chr12:56121600-56123400	Active TSS	GM12878-XiMat	blood
25	chr12:56121600-56123600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr12:56121600-56123600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:56121600-56123600	Active TSS	Pancreas	Pancrea
28	chr12:56121600-56123600	Active TSS	Thymus	Thymus
29	chr12:56121600-56123600	Active TSS	A549	lung
30	chr12:56121600-56123800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:56121600-56123800	Active TSS	Small Intestine	intestine
32	chr12:56121600-56124000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:56121600-56124000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:56121600-56124000	Active TSS	Lung	lung
35	chr12:56121600-56124000	Active TSS	Osteobl	bone
36	chr12:56121600-56124200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr12:56121600-56124200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr12:56121600-56124200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr12:56121600-56124200	Active TSS	Fetal Kidney	kidney
40	chr12:56121600-56124400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr12:56121800-56122800	Active TSS	Right Atrium	heart
42	chr12:56121800-56123200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr12:56121800-56123200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:56121800-56123200	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr12:56121800-56123200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr12:56121800-56123400	Active TSS	Stomach Mucosa	stomach
47	chr12:56121800-56123400	Active TSS	HepG2	liver
48	chr12:56121800-56123600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr12:56121800-56123600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:56121800-56123600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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