Variant report

Variant	rs7303170
Chromosome Location	chr12:121163373-121163374
allele	C/T
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	RAD21	chr12:121163372-121163921	H1-hESC	embryonic stem cell:	n/a	chr12:121163546-121163556
2	POLR2A	chr12:121163342-121164040	K562	blood:	n/a	n/a
3	IRF1	chr12:121163342-121163870	K562	blood:	n/a	chr12:121163611-121163625 chr12:121163540-121163554
4	PML	chr12:121163350-121164006	GM12878	blood:	n/a	n/a
5	SIN3A	chr12:121163015-121164112	H1-hESC	embryonic stem cell:	n/a	n/a
6	NFATC1	chr12:121163137-121163631	GM12878	blood:	n/a	n/a
7	PAX5	chr12:121163296-121163857	GM12878	blood:	n/a	chr12:121163571-121163590 chr12:121163640-121163649
8	NFATC1	chr12:121163241-121163769	GM12878	blood:	n/a	n/a
9	MYC	chr12:121163352-121164090	K562	blood:	n/a	n/a
10	POLR2A	chr12:121163285-121163864	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:121162579-121164122	ECC-1	luminal epithelium:	n/a	n/a
12	TCF12	chr12:121163257-121164388	A549	lung:	n/a	chr12:121163479-121163486
13	KAP1	chr12:121162964-121163852	U2OS	brain:	n/a	n/a
14	SP1	chr12:121163279-121163996	A549	lung:	n/a	chr12:121163614-121163623 chr12:121163544-121163553 chr12:121163543-121163552 chr12:121163614-121163628 chr12:121163542-121163554 chr12:121163613-121163625 chr12:121163543-121163553 chr12:121163615-121163624 chr12:121163543-121163552 chr12:121163542-121163554 chr12:121163542-121163553 chr12:121163543-121163557 chr12:121163543-121163553 chr12:121163613-121163625 chr12:121163613-121163624
15	NRF1	chr12:121163279-121163524	H1-hESC	embryonic stem cell:	n/a	chr12:121163492-121163501 chr12:121163491-121163502
16	NRF1	chr12:121163344-121163673	GM12878	blood:	n/a	chr12:121163544-121163553 chr12:121163492-121163501 chr12:121163491-121163502
17	MAFK	chr12:121163370-121163673	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr12:121163320-121164044	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr12:121163276-121163846	HepG2	liver:	n/a	n/a
20	JUND	chr12:121163370-121163802	K562	blood:	n/a	chr12:121163616-121163625
21	MAX	chr12:121163327-121164168	HepG2	liver:	n/a	n/a
22	GATA3	chr12:121163219-121163419	SH-SY5Y	brain:	n/a	n/a
23	TAF1	chr12:121163269-121163909	H1-hESC	embryonic stem cell:	n/a	n/a
24	HEY1	chr12:121163315-121163905	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:121163334-121163995	GM12892	blood:	n/a	n/a
26	POLR2A	chr12:121163197-121163923	PANC-1	pancreas:	n/a	n/a
27	SP4	chr12:121163326-121163756	H1-hESC	embryonic stem cell:	n/a	chr12:121163542-121163558 chr12:121163540-121163556 chr12:121163542-121163553 chr12:121163613-121163629 chr12:121163613-121163624
28	CHD1	chr12:121163367-121163771	GM12878	blood:	n/a	n/a
29	ZC3H11A	chr12:121163141-121163374	K562	blood:	n/a	n/a
30	ELF1	chr12:121163359-121164001	GM12878	blood:	n/a	n/a
31	POLR2A	chr12:121163329-121163881	K562	blood:	n/a	n/a
32	MXI1	chr12:121163356-121163839	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:121163124-121164451	HepG2	liver:	n/a	n/a
34	POLR2A	chr12:121162269-121163936	Hela-S3	cervix:	n/a	n/a
35	MAX	chr12:121163328-121163824	K562	blood:	n/a	n/a
36	HA-E2F1	chr12:121163227-121164031	MCF-7	breast:	n/a	chr12:121163544-121163553
37	NRF1	chr12:121163186-121163850	SK-N-SH	brain:	n/a	chr12:121163786-121163795 chr12:121163544-121163553 chr12:121163492-121163501 chr12:121163491-121163502
38	GATA3	chr12:121162964-121163994	A549	lung:	n/a	n/a
39	POLR2A	chr12:121163187-121164149	PFSK-1	brain:	n/a	n/a
40	SP1	chr12:121163267-121163884	H1-hESC	embryonic stem cell:	n/a	chr12:121163614-121163623 chr12:121163544-121163553 chr12:121163543-121163552 chr12:121163614-121163628 chr12:121163542-121163554 chr12:121163613-121163625 chr12:121163543-121163553 chr12:121163615-121163624 chr12:121163543-121163552 chr12:121163542-121163554 chr12:121163542-121163553 chr12:121163543-121163557 chr12:121163543-121163553 chr12:121163613-121163625 chr12:121163613-121163624
41	RFX5	chr12:121163372-121163808	Hela-S3	cervix:	n/a	n/a
42	TBP	chr12:121163007-121163850	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr12:121163333-121164132	K562	blood:	n/a	n/a
44	POLR2A	chr12:121163118-121164022	U87	brain:	n/a	n/a
45	TCF12	chr12:121163307-121163935	ECC-1	luminal epithelium:	n/a	chr12:121163479-121163486
46	USF1	chr12:121163340-121163649	H1-hESC	embryonic stem cell:	n/a	n/a
47	SP4	chr12:121163310-121163797	H1-hESC	embryonic stem cell:	n/a	chr12:121163542-121163558 chr12:121163540-121163556 chr12:121163542-121163553 chr12:121163613-121163629 chr12:121163613-121163624
48	POLR2A	chr12:121163070-121163949	PANC-1	pancreas:	n/a	n/a
49	RAD21	chr12:121163312-121164056	H1-hESC	embryonic stem cell:	n/a	chr12:121163546-121163556
50	POLR2A	chr12:121163139-121164063	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121163367-121163417	HAEpiC	amniotic membrane:	n/a
2	chr12:121163367-121163417	HUVEC	blood vessel:	n/a
3	chr12:121163367-121163417	SK-N-MC	brain:	n/a
4	chr12:121163367-121163417	Jurkat	blood:	n/a
5	chr12:121163367-121163417	SKMC	muscle:	n/a
6	chr12:121163367-121163417	GM19239	blood:	n/a
7	chr12:121163367-121163417	HCM	heart:	n/a
8	chr12:121163367-121163417	HNPCEpiC	eye:	n/a
9	chr12:121163367-121163417	Hela-S3	cervix:	n/a
10	chr12:121163367-121163417	HL-60	blood:	n/a
11	chr12:121163367-121163417	AoSMC	blood vessel:	n/a
12	chr12:121163367-121163417	BJ	skin:	n/a
13	chr12:121163367-121163417	HIPEpiC	eye:	n/a
14	chr12:121163367-121163417	HEEpiC	esophagus:	n/a
15	chr12:121163367-121163417	GM12892	blood:	n/a
16	chr12:121163367-121163417	ProgFib	skin:	n/a
17	chr12:121163367-121163417	IMR90	lung:	fetal
18	chr12:121163367-121163417	RPTEC	kidney:	n/a
19	chr12:121163367-121163417	T-47D	breast:	n/a
20	chr12:121163367-121163417	NHDF-neo	bronchial:	n/a
21	chr12:121163367-121163417	GM12878	blood:	n/a
22	chr12:121163367-121163417	GM06990	blood:	n/a
23	chr12:121163367-121163417	HCPEpiC	choroid plexus:	n/a
24	chr12:121163367-121163417	ovcar-3	ovarian:	n/a
25	chr12:121163367-121163417	GM12891	blood:	n/a
26	chr12:121163367-121163417	AG04450	lung:	fetal
27	chr12:121163367-121163417	PANC-1	pancreas:	n/a
28	chr12:121163367-121163417	HRPEpiC	eye:	n/a
29	chr12:121163367-121163417	SAEC	small airway:	n/a
30	chr12:121163367-121163417	NB4	blood:	n/a
31	chr12:121163367-121163417	AG09319	gingival:	n/a
32	chr12:121163367-121163417	HCT-116	colon:	n/a
33	chr12:121163367-121163417	SK-N-SH	brain:	n/a
34	chr12:121163367-121163417	MCF-7	breast:	n/a
35	chr12:121163367-121163417	HMEC	breast:	n/a
36	chr12:121163367-121163417	A549	lung:	n/a
37	chr12:121163367-121163417	Caco-2	colon:	n/a
38	chr12:121163367-121163417	NHBE	bronchial:	n/a
39	chr12:121163367-121163417	K562	blood:	n/a
40	chr12:121163367-121163417	PrEC	prostate:	n/a
41	chr12:121163367-121163417	HepG2	liver:	n/a
42	chr12:121163367-121163417	CMK	blood:	n/a
43	chr12:121163367-121163417	HCF	heart:	n/a
44	chr12:121163367-121163417	PFSK-1	brain:	n/a
45	chr12:121163367-121163417	NH-A	brain:	n/a
46	chr12:121163367-121163417	HRCEpiC	kidney:	n/a
47	chr12:121163367-121163417	SK-N-SH_RA	brain:	n/a
48	chr12:121163367-121163417	U87	brain:	n/a
49	chr12:121163367-121163417	H1-hESC	embryonic stem cell:	embryo
50	chr12:121163367-121163417	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121018631..121020878-chr12:121162530..121164769,2	MCF-7	breast:
2	chr12:121124457..121126009-chr12:121161896..121164295,2	K562	blood:
3	chr12:121136675..121138856-chr12:121162469..121164078,2	K562	blood:
4	chr12:121148319..121151196-chr12:121161623..121163655,2	K562	blood:
5	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
6	chr12:120729060..120730758-chr12:121163308..121164812,2	K562	blood:
7	chr12:121163197..121163956-chr16:31191423..31192105,2	Hela-S3	cervix:
8	chr12:121124509..121126833-chr12:121162138..121164295,2	K562	blood:

Variant related genes	Relation type
ENSG00000256569	TF binding region
ACADS	TF binding region
ACADS	CpG island
ENSG00000256569	CpG island
ENSG00000175970	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000256364	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10849778	0.81[CHD][hapmap]
rs10849779	0.93[ASN][1000 genomes]
rs11065208	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11065211	0.80[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065212	0.80[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065230	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065270	0.85[JPT][hapmap]
rs11065314	0.85[JPT][hapmap]
rs11829037	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833718	0.85[JPT][hapmap]
rs12296423	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12306138	0.85[JPT][hapmap]
rs1803508	0.96[ASN][1000 genomes]
rs3830155	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4559761	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55644516	0.89[EUR][1000 genomes]
rs59358833	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59904018	0.89[EUR][1000 genomes]
rs61229807	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489783	0.85[JPT][hapmap]
rs6490302	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs695950	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7133413	0.85[JPT][hapmap]
rs7135915	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7307973	0.85[JPT][hapmap]
rs7309538	0.84[JPT][hapmap]
rs7313532	0.85[JPT][hapmap]
rs73409923	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7956685	0.89[EUR][1000 genomes]
rs7958698	0.80[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7960336	0.85[JPT][hapmap]
rs7964228	0.91[ASN][1000 genomes]
rs7972583	0.97[ASN][1000 genomes]
rs7972912	0.85[JPT][hapmap]
rs7973907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949443	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr12:121151400-121163600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:121158400-121163600	Weak transcription	Small Intestine	intestine
3	chr12:121160200-121163600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121162600-121163400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:121162600-121163400	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr12:121162600-121163600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:121162800-121163400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:121162800-121163400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:121162800-121163400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:121162800-121163400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:121162800-121163400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:121162800-121163400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr12:121162800-121163400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:121162800-121163400	Flanking Active TSS	HepG2	liver
15	chr12:121162800-121163600	Enhancers	Spleen	Spleen
16	chr12:121162800-121163800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr12:121163000-121163400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:121163000-121163400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:121163000-121163400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:121163000-121163400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr12:121163000-121163400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr12:121163000-121163400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr12:121163000-121163400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr12:121163000-121163400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr12:121163000-121163400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:121163000-121163400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr12:121163000-121163400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:121163000-121163400	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr12:121163000-121163400	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr12:121163000-121163400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr12:121163000-121163400	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr12:121163000-121163400	Flanking Active TSS	Colonic Mucosa	Colon
33	chr12:121163000-121163400	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr12:121163000-121163400	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr12:121163000-121163400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr12:121163000-121163400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr12:121163000-121163400	Flanking Active TSS	Fetal Brain Male	brain
38	chr12:121163000-121163400	Flanking Active TSS	Fetal Heart	heart
39	chr12:121163000-121163400	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr12:121163000-121163400	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr12:121163000-121163400	Flanking Active TSS	Fetal Kidney	kidney
42	chr12:121163000-121163400	Flanking Active TSS	Fetal Lung	lung
43	chr12:121163000-121163400	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr12:121163000-121163400	Flanking Active TSS	Fetal Stomach	stomach
45	chr12:121163000-121163400	Flanking Active TSS	Left Ventricle	heart
46	chr12:121163000-121163400	Flanking Active TSS	Ovary	ovary
47	chr12:121163000-121163400	Flanking Active TSS	Pancreas	Pancrea
48	chr12:121163000-121163400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr12:121163000-121163400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr12:121163000-121163400	Flanking Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links