Variant report

Variant	rs57913468
Chromosome Location	chr12:121837709-121837710
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:519)
CpG islands
(count:61)
Chromatin interactive
region (count:27)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr12:121837616-121837888	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA3	chr12:121837441-121837797	T-47D	breast:	n/a	chr12:121837620-121837629
3	MYC	chr12:121837411-121838052	MCF-7	breast:	n/a	n/a
4	TAF1	chr12:121837544-121838140	SK-N-SH	brain:	n/a	n/a
5	CREB1	chr12:121837363-121838674	A549	lung:	n/a	n/a
6	ELF1	chr12:121837332-121838113	GM12878	blood:	n/a	n/a
7	EP300	chr12:121837436-121838116	GM12878	blood:	n/a	n/a
8	SIN3AK20	chr12:121837287-121838588	PANC-1	pancreas:	n/a	n/a
9	ZNF143	chr12:121837404-121838101	K562	blood:	n/a	chr12:121837581-121837599
10	NFYA	chr12:121837503-121838102	GM12878	blood:	n/a	chr12:121837810-121837828
11	RCOR1	chr12:121837585-121838131	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:121837230-121839265	GM12892	blood:	n/a	n/a
13	POLR2A	chr12:121837271-121839074	K562	blood:	n/a	n/a
14	BHLHE40	chr12:121837397-121838151	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:121837279-121838931	Hela-S3	cervix:	n/a	n/a
16	JUND	chr12:121837524-121838107	HepG2	liver:	n/a	n/a
17	SP4	chr12:121837445-121838070	H1-hESC	embryonic stem cell:	n/a	chr12:121837756-121837767 chr12:121837871-121837887 chr12:121837754-121837770
18	ETS1	chr12:121837381-121838708	A549	lung:	n/a	chr12:121838057-121838071
19	TAF1	chr12:121837322-121838419	K562	blood:	n/a	n/a
20	SP1	chr12:121837138-121839078	HCT-116	colon:	n/a	chr12:121837756-121837767 chr12:121837756-121837768 chr12:121837874-121837884 chr12:121837757-121837766 chr12:121837757-121837767 chr12:121837874-121837883 chr12:121837807-121837828 chr12:121837874-121837884 chr12:121837563-121837572 chr12:121837756-121837768 chr12:121837676-121837686
21	ZBTB33	chr12:121837436-121838107	A549	lung:	n/a	n/a
22	SMC3	chr12:121837578-121837741	HepG2	liver:	n/a	n/a
23	SIN3A	chr12:121837138-121838145	GM12878	blood:	n/a	n/a
24	PAX5	chr12:121837701-121838029	GM12891	blood:	n/a	chr12:121837866-121837875
25	SP1	chr12:121837219-121838811	A549	lung:	n/a	chr12:121837756-121837767 chr12:121837756-121837768 chr12:121837874-121837884 chr12:121837757-121837766 chr12:121837757-121837767 chr12:121837874-121837883 chr12:121837807-121837828 chr12:121837874-121837884 chr12:121837563-121837572 chr12:121837756-121837768 chr12:121837676-121837686
26	POLR2A	chr12:121837379-121838160	HUVEC	blood vessel:	n/a	n/a
27	GATA3	chr12:121837201-121838838	A549	lung:	n/a	chr12:121837620-121837629
28	SP2	chr12:121837496-121838025	HepG2	liver:	n/a	chr12:121837820-121837843 chr12:121837816-121837826 chr12:121837756-121837771 chr12:121837876-121837885
29	NFYB	chr12:121837295-121838133	GM12878	blood:	n/a	chr12:121837816-121837831 chr12:121837777-121837792
30	POLR2A	chr12:121837340-121838611	HUVEC	blood vessel:	n/a	n/a
31	REST	chr12:121837414-121838159	HepG2	liver:	n/a	chr12:121837677-121837690
32	MAX	chr12:121837163-121838684	ECC-1	luminal epithelium:	n/a	n/a
33	PBX3	chr12:121837670-121838011	GM12878	blood:	n/a	chr12:121837778-121837787 chr12:121837821-121837841
34	CHD2	chr12:121837291-121838204	Hela-S3	cervix:	n/a	n/a
35	NFYB	chr12:121837415-121838110	K562	blood:	n/a	chr12:121837816-121837831 chr12:121837777-121837792
36	POLR2A	chr12:121837249-121838830	H1-neurons	neurons:	n/a	n/a
37	SIN3AK20	chr12:121837360-121838151	K562	blood:	n/a	n/a
38	TAF7	chr12:121837323-121838210	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr12:121837282-121839166	GM12891	blood:	n/a	n/a
40	POLR2A	chr12:121837454-121839319	GM12878	blood:	n/a	n/a
41	ELF1	chr12:121837497-121837857	A549	lung:	n/a	n/a
42	ZNF143	chr12:121837490-121838153	GM12878	blood:	n/a	chr12:121837581-121837599
43	POLR2A	chr12:121837413-121838181	HepG2	liver:	n/a	n/a
44	FOS	chr12:121837584-121838013	MCF10A-Er-Src	breast:	n/a	n/a
45	EBF1	chr12:121837485-121837966	GM12878	blood:	n/a	n/a
46	SMC3	chr12:121837402-121838991	Hela-S3	cervix:	n/a	n/a
47	MAX	chr12:121837225-121839075	K562	blood:	n/a	chr12:121838817-121838826
48	POLR2A	chr12:121837292-121838224	H1-hESC	embryonic stem cell:	n/a	n/a
49	YY1	chr12:121837443-121838158	SK-N-SH_RA	brain:	n/a	n/a
50	PBX3	chr12:121837335-121838210	A549	lung:	n/a	chr12:121837778-121837787 chr12:121837821-121837841

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121837704-121837754	Hepatocyte	liver:	n/a
2	chr12:121837704-121837754	HCPEpiC	choroid plexus:	n/a
3	chr12:121837704-121837754	GM12878	blood:	n/a
4	chr12:121837704-121837754	HCF	heart:	n/a
5	chr12:121837704-121837754	SK-N-SH	brain:	n/a
6	chr12:121837704-121837754	SAEC	small airway:	n/a
7	chr12:121837704-121837754	H1-hESC	embryonic stem cell:	embryo
8	chr12:121837704-121837754	GM06990	blood:	n/a
9	chr12:121837704-121837754	AoSMC	blood vessel:	n/a
10	chr12:121837704-121837754	HUVEC	blood vessel:	n/a
11	chr12:121837704-121837754	BJ	skin:	n/a
12	chr12:121837704-121837754	MCF10A-Er-Src	breast:	n/a
13	chr12:121837704-121837754	Hela-S3	cervix:	n/a
14	chr12:121837704-121837754	HCT-116	colon:	n/a
15	chr12:121837704-121837754	HAEpiC	amniotic membrane:	n/a
16	chr12:121837704-121837754	NHBE	bronchial:	n/a
17	chr12:121837704-121837754	GM19239	blood:	n/a
18	chr12:121837704-121837754	HPAEpiC	pulmonary alveolar:	n/a
19	chr12:121837704-121837754	HepG2	liver:	n/a
20	chr12:121837704-121837754	NT2-D1	testis:	n/a
21	chr12:121837704-121837754	HMEC	breast:	n/a
22	chr12:121837704-121837754	T-47D	breast:	n/a
23	chr12:121837704-121837754	IMR90	lung:	fetal
24	chr12:121837704-121837754	AG04449	skin:	fetal
25	chr12:121837704-121837754	NH-A	brain:	n/a
26	chr12:121837704-121837754	AG04450	lung:	fetal
27	chr12:121837704-121837754	AG09319	gingival:	n/a
28	chr12:121837704-121837754	GM12892	blood:	n/a
29	chr12:121837704-121837754	U87	brain:	n/a
30	chr12:121837704-121837754	SK-N-SH_RA	brain:	n/a
31	chr12:121837704-121837754	ovcar-3	ovarian:	n/a
32	chr12:121837704-121837754	LNCaP	prostate:	n/a
33	chr12:121837704-121837754	HEK293	kidney:	embryo
34	chr12:121837704-121837754	PrEC	prostate:	n/a
35	chr12:121837704-121837754	AG10803	skin:	n/a
36	chr12:121837704-121837754	HL-60	blood:	n/a
37	chr12:121837704-121837754	HRE	kidney:	n/a
38	chr12:121837704-121837754	BE2_C	brain:	n/a
39	chr12:121837704-121837754	ECC-1	luminal epithelium:	n/a
40	chr12:121837704-121837754	PANC-1	pancreas:	n/a
41	chr12:121837704-121837754	HIPEpiC	eye:	n/a
42	chr12:121837704-121837754	NB4	blood:	n/a
43	chr12:121837704-121837754	HCM	heart:	n/a
44	chr12:121837704-121837754	Jurkat	blood:	n/a
45	chr12:121837704-121837754	PFSK-1	brain:	n/a
46	chr12:121837704-121837754	HEEpiC	esophagus:	n/a
47	chr12:121837704-121837754	ProgFib	skin:	n/a
48	chr12:121837704-121837754	Caco-2	colon:	n/a
49	chr12:121837704-121837754	GM12891	blood:	n/a
50	chr12:121837704-121837754	HRCEpiC	kidney:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121837219..121839609-chr12:122238728..122241051,2	MCF-7	breast:
2	chr12:121731746..121735132-chr12:121837281..121839785,4	K562	blood:
3	chr12:121837147..121837724-chr3:182510770..182511327,2	HCT-116	colon:
4	chr12:121788188..121792674-chr12:121835209..121840455,13	MCF-7	breast:
5	chr12:121784938..121792349-chr12:121835915..121842265,20	K562	blood:
6	chr12:121837283..121837955-chr5:14664313..14665299,2	Hela-S3	cervix:
7	chr12:121823951..121831575-chr12:121836455..121840985,9	K562	blood:
8	chr12:121771987..121773794-chr12:121836607..121839428,2	MCF-7	breast:
9	chr12:121828758..121833108-chr12:121835752..121839546,7	MCF-7	breast:
10	chr1:144533721..144534656-chr12:121837654..121838564,2	Hela-S3	cervix:
11	chr12:121788153..121793367-chr12:121835114..121840699,18	MCF-7	breast:
12	chr12:121789806..121790504-chr12:121837555..121838139,2	HCT-116	colon:
13	chr12:121837205..121837751-chr6:35656008..35656965,2	NB4	blood:
14	chr1:25573908..25574715-chr12:121837479..121838272,2	Hela-S3	cervix:
15	chr1:93811489..93812207-chr12:121837696..121838276,2	NB4	blood:
16	chr12:121734916..121736998-chr12:121837533..121840449,2	MCF-7	breast:
17	chr12:121731746..121734589-chr12:121836434..121839785,3	K562	blood:
18	chr12:121767542..121769565-chr12:121836866..121839237,2	MCF-7	breast:
19	chr12:121836495..121838050-chr12:122231938..122234187,2	K562	blood:
20	chr12:121837207..121838172-chr17:61850921..61851580,2	Hela-S3	cervix:
21	chr12:121735315..121736924-chr12:121836977..121839840,2	K562	blood:
22	chr12:121836844..121839503-chr12:121878978..121881423,3	K562	blood:
23	chr10:71905864..71906638-chr12:121837428..121838150,2	NB4	blood:
24	chr12:121786049..121792349-chr12:121835999..121841368,18	K562	blood:
25	chr1:154530841..154531520-chr12:121837303..121837817,2	Hela-S3	cervix:
26	chr12:121837570..121838344-chr7:43965460..43966352,2	Hela-S3	cervix:
27	chr12:121835704..121841982-chr12:121855433..121861253,10	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF34-1	chr12:121837379-121837718	NONHSAT031428

No data

Variant related genes	Relation type
ANAPC5	TF binding region
RNF34	TF binding region
RNF34	CpG island
ANAPC5	CpG island
ENSG00000240063	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000096060	Chromatin interaction
ENSG00000108588	Chromatin interaction
ENSG00000198231	Chromatin interaction
ENSG00000258435	Chromatin interaction
ENSG00000154124	Chromatin interaction
ENSG00000089094	Chromatin interaction
ENSG00000117505	Chromatin interaction
ENSG00000261360	Chromatin interaction
ENSG00000106608	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000089053	Chromatin interaction
ENSG00000160714	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000110931	Chromatin interaction
ENSG00000156521	Chromatin interaction
ENSG00000078967	Chromatin interaction
ENSG00000117616	Chromatin interaction
ENSG00000272432	Chromatin interaction
ENSG00000058063	Chromatin interaction
ENSG00000170633	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28625063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56840708	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57304385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58035798	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58927387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59078140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59834647	1.00[ASN][1000 genomes]
rs60436465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7132535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9788020	1.00[EUR][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121836200-121838400	Active TSS	Fetal Brain Female	brain
2	chr12:121836400-121838800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:121836400-121839000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr12:121836400-121839600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:121836600-121838800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:121836600-121838800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:121836600-121838800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr12:121836600-121838800	Active TSS	HMEC	breast
9	chr12:121836600-121838800	Active TSS	NHLF	lung
10	chr12:121836600-121839000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:121836600-121839000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr12:121836600-121839000	Active TSS	NHDF-Ad	bronchial
13	chr12:121836600-121839200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr12:121836600-121839400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:121836600-121839400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr12:121836600-121839600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:121836600-121839800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:121836600-121840600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:121836800-121837800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr12:121836800-121838200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:121836800-121838600	Active TSS	Rectal Smooth Muscle	rectum
22	chr12:121836800-121838800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:121836800-121838800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:121836800-121838800	Active TSS	HSMM	muscle
25	chr12:121836800-121839000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr12:121836800-121839000	Active TSS	Fetal Intestine Large	intestine
27	chr12:121836800-121839000	Active TSS	A549	lung
28	chr12:121836800-121839200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:121836800-121839200	Active TSS	Psoas Muscle	Psoas
30	chr12:121836800-121839200	Active TSS	Right Ventricle	heart
31	chr12:121836800-121839800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:121837000-121838000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:121837000-121838800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:121837000-121838800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:121837000-121838800	Active TSS	Colonic Mucosa	Colon
36	chr12:121837000-121838800	Active TSS	Fetal Heart	heart
37	chr12:121837000-121838800	Active TSS	Fetal Kidney	kidney
38	chr12:121837000-121838800	Active TSS	Placenta Amnion	Placenta Amnion
39	chr12:121837000-121838800	Active TSS	Dnd41	blood
40	chr12:121837000-121838800	Active TSS	Osteobl	bone
41	chr12:121837000-121839000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:121837000-121839000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:121837000-121839000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:121837000-121839000	Active TSS	Esophagus	oesophagus
45	chr12:121837000-121839000	Active TSS	Fetal Intestine Small	intestine
46	chr12:121837000-121839000	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr12:121837000-121839000	Active TSS	Left Ventricle	heart
48	chr12:121837000-121839000	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr12:121837000-121839000	Active TSS	Stomach Mucosa	stomach
50	chr12:121837000-121839200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links