Variant report

Variant	rs73403968
Chromosome Location	chr12:120967287-120967288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:187)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:187 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr12:120966510-120968109	A549	lung:	n/a	n/a
2	POLR2A	chr12:120966548-120967342	MCF-7	breast:	n/a	n/a
3	IRF1	chr12:120966627-120967990	K562	blood:	n/a	chr12:120967969-120967979 chr12:120967969-120967983 chr12:120967965-120967979 chr12:120967887-120967896 chr12:120967957-120967977
4	YY1	chr12:120966554-120967374	SK-N-SH	brain:	n/a	chr12:120966936-120966948
5	TBL1XR1	chr12:120966704-120967392	GM12878	blood:	n/a	n/a
6	CEBPB	chr12:120966633-120967426	A549	lung:	n/a	chr12:120966981-120966994
7	POLR2A	chr12:120966453-120967749	PFSK-1	brain:	n/a	n/a
8	YY1	chr12:120966510-120967392	A549	lung:	n/a	chr12:120966936-120966948
9	POLR2A	chr12:120966555-120967334	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:120966617-120967356	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr12:120966606-120967309	PANC-1	pancreas:	n/a	n/a
12	TCF12	chr12:120966595-120967340	ECC-1	luminal epithelium:	n/a	n/a
13	TAF1	chr12:120966541-120967309	PFSK-1	brain:	n/a	n/a
14	TEAD4	chr12:120966494-120967896	K562	blood:	n/a	n/a
15	MAX	chr12:120966698-120967939	NB4	blood:	n/a	n/a
16	MXI1	chr12:120966605-120967897	IMR90	lung:	n/a	n/a
17	POLR2A	chr12:120966561-120967403	HUVEC	blood vessel:	n/a	n/a
18	GATA3	chr12:120966614-120967796	A549	lung:	n/a	chr12:120967046-120967053
19	TBL1XR1	chr12:120966634-120967806	K562	blood:	n/a	n/a
20	MAX	chr12:120966487-120967945	A549	lung:	n/a	n/a
21	POLR2A	chr12:120966477-120967391	PFSK-1	brain:	n/a	n/a
22	CEBPB	chr12:120966543-120967379	HCT-116	colon:	n/a	chr12:120966981-120966994
23	KAP1	chr12:120966626-120967964	HEK293	kidney:	n/a	n/a
24	PML	chr12:120966582-120967354	K562	blood:	n/a	n/a
25	GATA3	chr12:120966694-120967873	MCF-7	breast:	n/a	chr12:120967046-120967053
26	UBTF	chr12:120966656-120967321	K562	blood:	n/a	n/a
27	CHD1	chr12:120966365-120967943	IMR90	lung:	n/a	n/a
28	MAX	chr12:120966621-120967287	A549	lung:	n/a	n/a
29	POLR2A	chr12:120966596-120967359	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chr12:120966545-120967354	K562	blood:	n/a	chr12:120966936-120966948
31	YY1	chr12:120966412-120967362	H1-hESC	embryonic stem cell:	n/a	chr12:120966936-120966948
32	GATA3	chr12:120966681-120967825	T-47D	breast:	n/a	chr12:120967046-120967053
33	REST	chr12:120966418-120967932	H1-neurons	neurons:	n/a	n/a
34	YY1	chr12:120966536-120967355	K562	blood:	n/a	chr12:120966936-120966948
35	POLR2A	chr12:120966556-120967326	K562	blood:	n/a	n/a
36	ELF1	chr12:120966624-120967361	MCF-7	breast:	n/a	n/a
37	POLR2A	chr12:120966293-120967864	HUVEC	blood vessel:	n/a	n/a
38	STAT3	chr12:120967039-120967293	MCF10A-Er-Src	breast:	n/a	chr12:120967112-120967124
39	RUNX3	chr12:120966486-120967489	GM12878	blood:	n/a	n/a
40	GATA3	chr12:120966521-120967829	MCF-7	breast:	n/a	chr12:120967046-120967053
41	CREB1	chr12:120966535-120967438	GM12878	blood:	n/a	n/a
42	RUNX3	chr12:120966478-120967303	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:120966646-120967297	HUVEC	blood vessel:	n/a	n/a
44	BCL3	chr12:120966592-120967818	A549	lung:	n/a	n/a
45	POLR2A	chr12:120966543-120967367	K562	blood:	n/a	n/a
46	MYC	chr12:120966693-120967772	NB4	blood:	n/a	n/a
47	CHD2	chr12:120966709-120967340	GM12878	blood:	n/a	n/a
48	CREB1	chr12:120966586-120967376	GM12878	blood:	n/a	n/a
49	NR2F2	chr12:120966436-120967462	K562	blood:	n/a	n/a
50	YY1	chr12:120966598-120967296	K562	blood:	n/a	chr12:120966936-120966948

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120967237-120967287	K562	blood:	n/a
2	chr12:120967237-120967287	Hepatocyte	liver:	n/a
3	chr12:120967237-120967287	HCPEpiC	choroid plexus:	n/a
4	chr12:120967237-120967287	GM12892	blood:	n/a
5	chr12:120967237-120967287	SK-N-SH_RA	brain:	n/a
6	chr12:120967237-120967287	AG09319	gingival:	n/a
7	chr12:120967237-120967287	HAEpiC	amniotic membrane:	n/a
8	chr12:120967237-120967287	NHBE	bronchial:	n/a
9	chr12:120967237-120967287	Jurkat	blood:	n/a
10	chr12:120967237-120967287	SK-N-SH	brain:	n/a
11	chr12:120967237-120967287	GM12891	blood:	n/a
12	chr12:120967237-120967287	NB4	blood:	n/a
13	chr12:120967237-120967287	MCF10A-Er-Src	breast:	n/a
14	chr12:120967237-120967287	NH-A	brain:	n/a
15	chr12:120967237-120967287	U87	brain:	n/a
16	chr12:120967237-120967287	AG09309	skin:	n/a
17	chr12:120967237-120967287	MCF-7	breast:	n/a
18	chr12:120967237-120967287	NHDF-neo	bronchial:	n/a
19	chr12:120967237-120967287	GM19239	blood:	n/a
20	chr12:120967237-120967287	PFSK-1	brain:	n/a
21	chr12:120967237-120967287	HCF	heart:	n/a
22	chr12:120967237-120967287	HNPCEpiC	eye:	n/a
23	chr12:120967237-120967287	SKMC	muscle:	n/a
24	chr12:120967237-120967287	ECC-1	luminal epithelium:	n/a
25	chr12:120967237-120967287	HPAEpiC	pulmonary alveolar:	n/a
26	chr12:120967237-120967287	HUVEC	blood vessel:	n/a
27	chr12:120967237-120967287	GM12878	blood:	n/a
28	chr12:120967237-120967287	SK-N-MC	brain:	n/a
29	chr12:120967237-120967287	GM06990	blood:	n/a
30	chr12:120967237-120967287	HEK293	kidney:	embryo
31	chr12:120967237-120967287	BE2_C	brain:	n/a
32	chr12:120967237-120967287	CMK	blood:	n/a
33	chr12:120967237-120967287	ovcar-3	ovarian:	n/a
34	chr12:120967237-120967287	Caco-2	colon:	n/a
35	chr12:120967237-120967287	LNCaP	prostate:	n/a
36	chr12:120967237-120967287	HIPEpiC	eye:	n/a
37	chr12:120967237-120967287	IMR90	lung:	fetal
38	chr12:120967237-120967287	RPTEC	kidney:	n/a
39	chr12:120967237-120967287	HRE	kidney:	n/a
40	chr12:120967237-120967287	A549	lung:	n/a
41	chr12:120967237-120967287	AG10803	skin:	n/a
42	chr12:120967237-120967287	HMEC	breast:	n/a
43	chr12:120967237-120967287	HRCEpiC	kidney:	n/a
44	chr12:120967237-120967287	T-47D	breast:	n/a
45	chr12:120967237-120967287	AG04449	skin:	fetal
46	chr12:120967237-120967287	ProgFib	skin:	n/a
47	chr12:120967237-120967287	Hela-S3	cervix:	n/a
48	chr12:120967237-120967287	PrEC	prostate:	n/a
49	chr12:120967237-120967287	AG04450	lung:	fetal
50	chr12:120967237-120967287	HRPEpiC	eye:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120905972..120909439-chr12:120965576..120970322,8	MCF-7	breast:
2	chr12:120728049..120731590-chr12:120965249..120968541,5	K562	blood:
3	chr12:120932502..120935417-chr12:120966408..120968984,3	MCF-7	breast:
4	chr12:120966448..120968669-chr12:120990053..120993175,3	MCF-7	breast:
5	chr12:120728453..120733011-chr12:120965347..120973411,16	MCF-7	breast:
6	chr12:120964646..120969249-chr12:120969286..120973951,11	MCF-7	breast:
7	chr12:120636466..120640337-chr12:120966729..120969535,3	MCF-7	breast:
8	chr12:120932523..120935512-chr12:120965345..120968367,3	MCF-7	breast:
9	chr12:120966687..120967455-chr9:127703093..127703620,2	Hela-S3	cervix:
10	chr12:120637319..120640372-chr12:120965439..120969225,4	K562	blood:
11	chr12:120965472..120968197-chr12:121646463..121648820,2	K562	blood:
12	chr12:120729237..120731146-chr12:120965181..120968217,3	MCF-7	breast:
13	chr12:120905660..120907924-chr12:120965439..120968401,2	MCF-7	breast:
14	chr12:120932975..120935609-chr12:120965561..120969430,6	K562	blood:
15	chr12:120883044..120885202-chr12:120966979..120969581,2	K562	blood:
16	chr12:120934054..120936287-chr12:120966292..120969256,3	K562	blood:
17	chr12:120907343..120910344-chr12:120965426..120968868,4	K562	blood:

No data

Variant related genes	Relation type
COQ5	TF binding region
RNF10	TF binding region
RNF10	CpG island
COQ5	CpG island
ENSG00000135124	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000136935	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000089157	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11065140	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065142	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11548262	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11608807	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11609119	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11611781	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11611814	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612519	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11613214	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11614224	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615264	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615719	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11829765	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16950293	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16950305	0.88[ASN][1000 genomes]
rs2280168	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35696148	0.88[ASN][1000 genomes]
rs3742049	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759402	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3817301	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3829291	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4102203	0.97[EUR][1000 genomes]
rs4439575	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57646360	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59088579	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59201986	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60162888	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6490292	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66840048	0.90[ASN][1000 genomes]
rs7027	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7134710	0.96[EUR][1000 genomes]
rs719449	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs719450	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7296473	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7297861	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7299954	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7314103	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73403923	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73403943	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73403947	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73403975	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405628	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7961895	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7962410	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964008	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7973555	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120965800-120967600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:120966000-120967400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr12:120966000-120967400	Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr12:120966000-120967400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:120966000-120967400	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr12:120966000-120967400	Active TSS	Thymus	Thymus
7	chr12:120966000-120967400	Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:120966000-120967600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr12:120966000-120967600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr12:120966000-120967600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:120966000-120967600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:120966000-120967600	Active TSS	Brain Hippocampus Middle	brain
13	chr12:120966000-120967600	Active TSS	Fetal Lung	lung
14	chr12:120966000-120967600	Active TSS	A549	lung
15	chr12:120966000-120967800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr12:120966000-120967800	Active TSS	Colon Smooth Muscle	Colon
17	chr12:120966000-120967800	Active TSS	Fetal Muscle Trunk	muscle
18	chr12:120966000-120968000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr12:120966000-120968000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:120966000-120968000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:120966000-120968000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:120966000-120968000	Active TSS	Brain Anterior Caudate	brain
23	chr12:120966000-120968000	Active TSS	Fetal Brain Female	brain
24	chr12:120966000-120968000	Active TSS	Fetal Stomach	stomach
25	chr12:120966000-120968000	Active TSS	GM12878-XiMat	blood
26	chr12:120966000-120968200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:120966000-120968200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr12:120966000-120968200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:120966000-120968200	Active TSS	Fetal Kidney	kidney
30	chr12:120966000-120968200	Active TSS	Psoas Muscle	Psoas
31	chr12:120966000-120968200	Active TSS	Right Atrium	heart
32	chr12:120966000-120968200	Active TSS	NHDF-Ad	bronchial
33	chr12:120966000-120968400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:120966000-120968400	Active TSS	Rectal Smooth Muscle	rectum
35	chr12:120966000-120968400	Active TSS	HepG2	liver
36	chr12:120966000-120968600	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr12:120966200-120967400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:120966200-120967400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:120966200-120967400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr12:120966200-120967400	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr12:120966200-120967400	Active TSS	Esophagus	oesophagus
42	chr12:120966200-120967400	Active TSS	Gastric	stomach
43	chr12:120966200-120967400	Active TSS	Lung	lung
44	chr12:120966200-120967400	Active TSS	Small Intestine	intestine
45	chr12:120966200-120967400	Active TSS	HSMMtube	muscle
46	chr12:120966200-120967600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr12:120966200-120967600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:120966200-120967600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:120966200-120967600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:120966200-120967600	Active TSS	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links