Variant report

Variant	rs188177850
Chromosome Location	chr12:56122244-56122245
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	NFIC	chr12:56121508-56122462	ECC-1	luminal epithelium:	n/a	n/a
2	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
3	YY1	chr12:56121946-56122413	SK-N-SH	brain:	n/a	chr12:56122026-56122040 chr12:56122345-56122354
4	ELF1	chr12:56122035-56122457	A549	lung:	n/a	chr12:56122347-56122359
5	MAZ	chr12:56122161-56122361	HepG2	liver:	n/a	chr12:56122244-56122254 chr12:56122346-56122356
6	POLR2A	chr12:56121103-56124569	IMR90	lung:	n/a	n/a
7	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
8	POLR2A	chr12:56113532-56124497	U87	brain:	n/a	n/a
9	ELF1	chr12:56121482-56122434	K562	blood:	n/a	chr12:56122347-56122359 chr12:56121537-56121548
10	ETS1	chr12:56121926-56122411	A549	lung:	n/a	chr12:56122345-56122356
11	MXI1	chr12:56121763-56122409	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr12:56122238-56122470	A549	lung:	n/a	n/a
13	YY1	chr12:56121867-56122297	GM12892	blood:	n/a	chr12:56122026-56122040
14	ELF1	chr12:56121370-56122404	MCF-7	breast:	n/a	chr12:56122347-56122359 chr12:56121537-56121548
15	POLR2A	chr12:56121349-56124018	K562	blood:	n/a	n/a
16	CHD1	chr12:56120323-56124349	IMR90	lung:	n/a	n/a
17	RUNX3	chr12:56122043-56122475	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:56121588-56123832	Hela-S3	cervix:	n/a	n/a
19	ELF1	chr12:56121925-56122399	SK-N-SH	brain:	n/a	chr12:56122347-56122359
20	SP1	chr12:56121501-56122524	A549	lung:	n/a	chr12:56122339-56122348 chr12:56122338-56122350 chr12:56122489-56122503 chr12:56122243-56122255 chr12:56122338-56122350 chr12:56122244-56122254 chr12:56122502-56122516 chr12:56122339-56122349 chr12:56122146-56122160 chr12:56122305-56122319 chr12:56121832-56121846 chr12:56122149-56122161 chr12:56122496-56122505 chr12:56122150-56122159 chr12:56122497-56122506 chr12:56122149-56122161 chr12:56122339-56122348 chr12:56122243-56122255 chr12:56122340-56122349 chr12:56122507-56122514
21	YY1	chr12:56121785-56122410	SK-N-SH_RA	brain:	n/a	chr12:56122026-56122040 chr12:56122345-56122354
22	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
23	POLR2A	chr12:56121381-56122476	Hela-S3	cervix:	n/a	n/a
24	GATA3	chr12:56121997-56122383	T-47D	breast:	n/a	n/a
25	MYC	chr12:56122242-56122309	HUVEC	blood vessel:	n/a	chr12:56122244-56122254
26	E2F6	chr12:56122242-56122415	K562	blood:	n/a	chr12:56122345-56122354
27	TAF1	chr12:56122143-56122412	SK-N-SH	brain:	n/a	n/a
28	ELF1	chr12:56121328-56124343	GM12878	blood:	n/a	chr12:56122496-56122508 chr12:56122347-56122359 chr12:56121537-56121548 chr12:56122768-56122780 chr12:56122979-56122990
29	YY1	chr12:56121979-56122252	GM12892	blood:	n/a	chr12:56122026-56122040
30	EP300	chr12:56121390-56122509	SK-N-SH	brain:	n/a	chr12:56121538-56121552
31	POLR2A	chr12:56122168-56122477	GM12878	blood:	n/a	n/a
32	SMARCB1	chr12:56121492-56123851	Hela-S3	cervix:	n/a	chr12:56122915-56122924
33	YY1	chr12:56121897-56122310	SK-N-SH_RA	brain:	n/a	chr12:56122026-56122040
34	TCF12	chr12:56121319-56124183	A549	lung:	n/a	chr12:56122619-56122629
35	YY1	chr12:56121810-56122479	HepG2	liver:	n/a	chr12:56122026-56122040 chr12:56122345-56122354
36	MXI1	chr12:56121169-56124795	SK-N-SH	brain:	n/a	chr12:56122967-56122976 chr12:56122965-56122974 chr12:56122967-56122976 chr12:56122965-56122974
37	POLR2A	chr12:56121554-56123736	ECC-1	luminal epithelium:	n/a	n/a
38	TAF1	chr12:56121822-56123692	ECC-1	luminal epithelium:	n/a	n/a
39	CTCF	chr12:56122200-56122350	GM12865	blood:	n/a	n/a
40	YY1	chr12:56122013-56122250	K562	blood:	n/a	chr12:56122026-56122040
41	MTA3	chr12:56121529-56122252	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:56120298-56122466	U87	brain:	n/a	n/a
43	SIN3AK20	chr12:56122140-56122395	SK-N-SH	brain:	n/a	n/a
44	MAX	chr12:56121668-56122571	SK-N-SH	brain:	n/a	chr12:56122244-56122254 chr12:56122346-56122356 chr12:56122150-56122160
45	MAX	chr12:56121586-56123871	HCT-116	colon:	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
46	ELF1	chr12:56122074-56122397	HepG2	liver:	n/a	chr12:56122347-56122359
47	UBTF	chr12:56121345-56123195	K562	blood:	n/a	n/a
48	TCF7L2	chr12:56122214-56122424	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr12:56121300-56122484	K562	blood:	n/a	n/a
50	ZBTB7A	chr12:56121703-56123680	ECC-1	luminal epithelium:	n/a	chr12:56122991-56123002 chr12:56123043-56123051

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56122242-56122292	T-47D	breast:	n/a
2	chr12:56122242-56122292	NT2-D1	testis:	n/a
3	chr12:56122229-56122279	SK-N-SH	brain:	n/a
4	chr12:56122229-56122279	ECC-1	luminal epithelium:	n/a
5	chr12:56122242-56122292	H1-hESC	embryonic stem cell:	embryo
6	chr12:56122242-56122292	AG09309	skin:	n/a
7	chr12:56122242-56122292	HCF	heart:	n/a
8	chr12:56122229-56122279	NH-A	brain:	n/a
9	chr12:56122242-56122292	AoSMC	blood vessel:	n/a
10	chr12:56122229-56122279	AG09319	gingival:	n/a
11	chr12:56122242-56122292	Jurkat	blood:	n/a
12	chr12:56122242-56122292	GM12891	blood:	n/a
13	chr12:56122229-56122279	H1-hESC	embryonic stem cell:	embryo
14	chr12:56122229-56122279	MCF-7	breast:	n/a
15	chr12:56122229-56122279	HRE	kidney:	n/a
16	chr12:56122242-56122292	SKMC	muscle:	n/a
17	chr12:56122242-56122292	BJ	skin:	n/a
18	chr12:56122229-56122279	GM12892	blood:	n/a
19	chr12:56122242-56122292	HUVEC	blood vessel:	n/a
20	chr12:56122229-56122279	Hepatocyte	liver:	n/a
21	chr12:56122242-56122292	GM12878	blood:	n/a
22	chr12:56122242-56122292	HNPCEpiC	eye:	n/a
23	chr12:56122242-56122292	HL-60	blood:	n/a
24	chr12:56122242-56122292	NB4	blood:	n/a
25	chr12:56122229-56122279	SK-N-SH_RA	brain:	n/a
26	chr12:56122229-56122279	BE2_C	brain:	n/a
27	chr12:56122229-56122279	LNCaP	prostate:	n/a
28	chr12:56122229-56122279	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:56122229-56122279	MCF10A-Er-Src	breast:	n/a
30	chr12:56122229-56122279	HNPCEpiC	eye:	n/a
31	chr12:56122242-56122292	NH-A	brain:	n/a
32	chr12:56122229-56122279	NHDF-neo	bronchial:	n/a
33	chr12:56122242-56122292	HAEpiC	amniotic membrane:	n/a
34	chr12:56122229-56122279	Jurkat	blood:	n/a
35	chr12:56122229-56122279	AG04449	skin:	fetal
36	chr12:56122229-56122279	ovcar-3	ovarian:	n/a
37	chr12:56122229-56122279	AoSMC	blood vessel:	n/a
38	chr12:56122242-56122292	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:56122229-56122279	HCT-116	colon:	n/a
40	chr12:56122229-56122279	AG10803	skin:	n/a
41	chr12:56122229-56122279	HepG2	liver:	n/a
42	chr12:56122229-56122279	HCM	heart:	n/a
43	chr12:56122229-56122279	GM12891	blood:	n/a
44	chr12:56122242-56122292	AG04450	lung:	fetal
45	chr12:56122242-56122292	HepG2	liver:	n/a
46	chr12:56122242-56122292	BE2_C	brain:	n/a
47	chr12:56122229-56122279	HUVEC	blood vessel:	n/a
48	chr12:56122242-56122292	HCM	heart:	n/a
49	chr12:56122229-56122279	CMK	blood:	n/a
50	chr12:56122229-56122279	SAEC	small airway:	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	chr12:56119665..56125098-chr12:56220794..56225708,11	MCF-7	breast:
5	chr12:56120003..56122736-chr12:56659216..56661326,3	K562	blood:
6	chr1:65886332..65886968-chr12:56121977..56122488,2	Hela-S3	cervix:
7	chr12:56121779..56124068-chr12:56319367..56323030,5	K562	blood:
8	chr12:56120093..56124486-chr12:56434488..56437037,3	K562	blood:
9	chr12:56121964..56122628-chr15:41047145..41047901,2	Hela-S3	cervix:
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	chr12:56120972..56124195-chr12:56135682..56138639,8	MCF-7	breast:
31	chr12:56122094..56122749-chr15:66796752..66797619,2	Hela-S3	cervix:
32	chr12:56121261..56123274-chr12:56389263..56391155,2	K562	blood:
33	chr12:56120505..56122635-chr12:56345271..56347933,2	K562	blood:
34	chr12:56121418..56123151-chr12:56510609..56512159,2	MCF-7	breast:
35	chr12:56120587..56125243-chr12:56320195..56323478,6	MCF-7	breast:
36	chr12:56099553..56102772-chr12:56120884..56124385,4	K562	blood:
37	chr12:56121691..56123442-chr12:56362303..56365050,2	MCF-7	breast:
38	chr12:56119294..56126638-chr12:56434111..56441706,13	K562	blood:
39	chr12:56121599..56124065-chr12:56209598..56212420,4	MCF-7	breast:
40	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
ENSG00000135414	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000116678	Chromatin interaction
ENSG00000174444	Chromatin interaction
ENSG00000174442	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000213625	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000170439	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000177694	Chromatin interaction
ENSG00000135424	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000258345	Chromatin interaction
ENSG00000135469	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000170515	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	chr12:56121200-56122400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:56121200-56123600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:56121200-56123800	Active TSS	Sigmoid Colon	Sigmoid Colon
7	chr12:56121200-56124000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr12:56121200-56124000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:56121200-56124000	Active TSS	Aorta	Aorta
10	chr12:56121200-56124000	Active TSS	Ovary	ovary
11	chr12:56121200-56124200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:56121200-56124200	Active TSS	HSMMtube	muscle
13	chr12:56121200-56124400	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr12:56121200-56124400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:56121200-56125200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:56121400-56122400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr12:56121400-56123000	Active TSS	NH-A	brain
18	chr12:56121400-56123600	Active TSS	Fetal Intestine Large	intestine
19	chr12:56121400-56123800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:56121400-56123800	Active TSS	Psoas Muscle	Psoas
21	chr12:56121400-56123800	Active TSS	NHDF-Ad	bronchial
22	chr12:56121400-56124000	Active TSS	Gastric	stomach
23	chr12:56121400-56124200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr12:56121400-56124400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:56121600-56122400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr12:56121600-56122400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr12:56121600-56123200	Active TSS	HMEC	breast
28	chr12:56121600-56123400	Active TSS	GM12878-XiMat	blood
29	chr12:56121600-56123600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr12:56121600-56123600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:56121600-56123600	Active TSS	Pancreas	Pancrea
32	chr12:56121600-56123600	Active TSS	Thymus	Thymus
33	chr12:56121600-56123600	Active TSS	A549	lung
34	chr12:56121600-56123800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:56121600-56123800	Active TSS	Small Intestine	intestine
36	chr12:56121600-56124000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:56121600-56124000	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr12:56121600-56124000	Active TSS	Lung	lung
39	chr12:56121600-56124000	Active TSS	Osteobl	bone
40	chr12:56121600-56124200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr12:56121600-56124200	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr12:56121600-56124200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr12:56121600-56124200	Active TSS	Fetal Kidney	kidney
44	chr12:56121600-56124400	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr12:56121800-56122800	Active TSS	Right Atrium	heart
46	chr12:56121800-56123200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr12:56121800-56123200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:56121800-56123200	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr12:56121800-56123200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr12:56121800-56123400	Active TSS	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links