Variant report

Variant	rs73383487
Chromosome Location	chr12:105379965-105379966
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	POLR2A	chr12:105379771-105380727	NB4	blood:	n/a	n/a
2	TAF1	chr12:105379861-105380301	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr12:105379667-105380496	HUVEC	blood vessel:	n/a	n/a
4	FOXP2	chr12:105379957-105380288	SK-N-MC	brain:	n/a	n/a
5	TBP	chr12:105379798-105380640	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr12:105379932-105380375	GM12891	blood:	n/a	n/a
7	BHLHE40	chr12:105379836-105380637	GM12878	blood:	n/a	chr12:105380424-105380440 chr12:105380363-105380379
8	SP1	chr12:105379782-105380231	GM12878	blood:	n/a	chr12:105380005-105380014 chr12:105380066-105380080 chr12:105380066-105380075 chr12:105380065-105380077 chr12:105380004-105380016 chr12:105380065-105380077 chr12:105380067-105380076 chr12:105380005-105380019 chr12:105380066-105380075
9	MYC	chr12:105379946-105380360	MCF-7	breast:	n/a	n/a
10	POLR2A	chr12:105379826-105380487	MCF-7	breast:	n/a	n/a
11	SIN3AK20	chr12:105379807-105380587	MCF-7	breast:	n/a	n/a
12	SRF	chr12:105379624-105380380	ECC-1	luminal epithelium:	n/a	n/a
13	MYC	chr12:105379941-105380268	HepG2	liver:	n/a	n/a
14	POLR2A	chr12:105379890-105380412	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr12:105379898-105380325	IMR90	lung:	n/a	n/a
16	SP1	chr12:105379747-105380410	A549	lung:	n/a	chr12:105380005-105380014 chr12:105380066-105380080 chr12:105380066-105380075 chr12:105380065-105380077 chr12:105380004-105380016 chr12:105380065-105380077 chr12:105380067-105380076 chr12:105380005-105380019 chr12:105380066-105380075
17	ETS1	chr12:105379923-105380407	K562	blood:	n/a	n/a
18	TAF1	chr12:105379935-105380233	GM12891	blood:	n/a	n/a
19	POLR2A	chr12:105379784-105380357	GM12891	blood:	n/a	n/a
20	TAF1	chr12:105379827-105380344	MCF-7	breast:	n/a	n/a
21	POLR2A	chr12:105379797-105380665	HepG2	liver:	n/a	n/a
22	POLR2A	chr12:105379805-105380684	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr12:105379762-105380367	MCF10A-Er-Src	breast:	n/a	n/a
24	TAF1	chr12:105379867-105380321	K562	blood:	n/a	n/a
25	MXI1	chr12:105379859-105380458	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr12:105379792-105380415	ECC-1	luminal epithelium:	n/a	n/a
27	YY1	chr12:105379759-105380458	GM12878	blood:	n/a	chr12:105380400-105380411 chr12:105380067-105380076
28	POLR2A	chr12:105379840-105380339	HepG2	liver:	n/a	n/a
29	TAF1	chr12:105379817-105380706	H1-hESC	embryonic stem cell:	n/a	n/a
30	REST	chr12:105379909-105380425	PFSK-1	brain:	n/a	chr12:105380062-105380075 chr12:105380361-105380374 chr12:105380364-105380377 chr12:105379994-105380007
31	MYC	chr12:105379951-105380462	MCF-7	breast:	n/a	n/a
32	POLR2A	chr12:105379833-105380420	PBDE	blood:	n/a	n/a
33	NFYB	chr12:105379870-105380189	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr12:105379777-105380383	GM18951	blood:	n/a	n/a
35	MAZ	chr12:105379842-105380331	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:105379849-105380386	K562	blood:	n/a	n/a
37	POLR2A	chr12:105379879-105380272	K562	blood:	n/a	n/a
38	CEBPB	chr12:105379848-105380203	Hela-S3	cervix:	n/a	n/a
39	CEBPD	chr12:105379884-105380285	HepG2	liver:	n/a	n/a
40	CHD2	chr12:105379922-105380278	HepG2	liver:	n/a	chr12:105380065-105380075
41	NFIC	chr12:105379946-105380249	HepG2	liver:	n/a	n/a
42	MAX	chr12:105379888-105380665	GM12878	blood:	n/a	n/a
43	YY1	chr12:105379798-105380380	SK-N-SH_RA	brain:	n/a	chr12:105380067-105380076
44	POLR2A	chr12:105379714-105380300	HepG2	liver:	n/a	n/a
45	RCOR1	chr12:105379870-105380317	K562	blood:	n/a	n/a
46	ELK1	chr12:105379835-105380269	GM12878	blood:	n/a	n/a
47	NFIC	chr12:105379748-105380271	GM12878	blood:	n/a	n/a
48	E2F6	chr12:105379772-105380499	A549	lung:	n/a	chr12:105380064-105380076 chr12:105380067-105380076 chr12:105380291-105380300
49	POLR2A	chr12:105379802-105380463	GM12892	blood:	n/a	n/a
50	POLR2A	chr12:105379802-105380394	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:105349646..105353787-chr12:105376379..105382982,10	MCF-7	breast:
2	chr12:53718302..53719271-chr12:105379712..105380362,2	NB4	blood:
3	chr12:105379925..105380593-chr5:79950231..79951164,2	HCT-116	colon:
4	chr12:105379411..105381004-chr12:105501090..105502694,2	MCF-7	breast:
5	chr12:105379932..105381513-chr12:105500073..105501775,2	MCF-7	breast:
6	chr12:105351138..105353772-chr12:105378582..105380234,3	MCF-7	breast:
7	chr10:120938058..120938919-chr12:105379858..105380461,2	NB4	blood:
8	chr12:105379882..105380391-chr2:26256742..26257507,2	MCF-7	breast:
9	chr12:7052689..7053433-chr12:105379811..105380628,2	HCT-116	colon:

Variant related genes	Relation type
C12orf45	TF binding region
ENSG00000111678	Chromatin interaction
ENSG00000228716	Chromatin interaction
ENSG00000257999	Chromatin interaction
ENSG00000094914	Chromatin interaction
ENSG00000113318	Chromatin interaction
ENSG00000165672	Chromatin interaction
ENSG00000084733	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000136051	Chromatin interaction
ENSG00000136052	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12579120	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12579129	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12579441	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12579790	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12580237	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12580271	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580282	1.00[EUR][1000 genomes]
rs12580384	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12581352	0.87[ASN][1000 genomes]
rs12582090	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12582132	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036606	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35938519	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61060789	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7135496	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73383478	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73383483	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73383495	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73383498	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73387230	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv869	chr12:105363425-105394904	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105379200-105380600	Active TSS	Liver	Liver
2	chr12:105379200-105380600	Active TSS	Hela-S3	cervix
3	chr12:105379200-105380600	Bivalent/Poised TSS	HepG2	liver
4	chr12:105379200-105380800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr12:105379200-105380800	Active TSS	NHEK	skin
6	chr12:105379200-105381200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr12:105379200-105381400	Active TSS	Duodenum Mucosa	Duodenum
8	chr12:105379200-105381400	Active TSS	GM12878-XiMat	blood
9	chr12:105379400-105380000	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr12:105379400-105380000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:105379400-105380000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr12:105379400-105380000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr12:105379400-105380000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:105379400-105380000	Flanking Active TSS	Dnd41	blood
15	chr12:105379400-105380200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:105379400-105380600	Active TSS	Brain Angular Gyrus	brain
17	chr12:105379400-105380600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:105379400-105380600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr12:105379400-105380600	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr12:105379400-105380600	Active TSS	Stomach Smooth Muscle	stomach
21	chr12:105379400-105380800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:105379400-105380800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:105379400-105380800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:105379400-105380800	Active TSS	Brain Cingulate Gyrus	brain
25	chr12:105379400-105381000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr12:105379400-105381000	Active TSS	Rectal Smooth Muscle	rectum
27	chr12:105379400-105381200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr12:105379400-105381200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:105379400-105381600	Active TSS	Colonic Mucosa	Colon
30	chr12:105379600-105380000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr12:105379600-105380000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr12:105379600-105380000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr12:105379600-105380000	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr12:105379600-105380000	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr12:105379600-105380000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:105379600-105380000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr12:105379600-105380000	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr12:105379600-105380000	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr12:105379600-105380000	Flanking Active TSS	Thymus	Thymus
40	chr12:105379600-105380000	Flanking Active TSS	HUVEC	blood vessel
41	chr12:105379600-105380000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr12:105379600-105380600	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr12:105379600-105380600	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr12:105379600-105380600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:105379600-105380600	Active TSS	Muscle Satellite Cultured Cells	--
46	chr12:105379600-105380600	Active TSS	Brain Hippocampus Middle	brain
47	chr12:105379600-105380600	Active TSS	Esophagus	oesophagus
48	chr12:105379600-105380600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr12:105379600-105380600	Active TSS	Fetal Brain Female	brain
50	chr12:105379600-105380600	Active TSS	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links