Variant report

Variant	rs571748438
Chromosome Location	chr12:31905359-31905360
allele	G/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	NR2F2	chr12:31904840-31905497	K562	blood:	n/a	n/a
2	POLR2A	chr12:31904965-31905780	GM12878	blood:	n/a	n/a
3	IKZF1	chr12:31904676-31905623	GM12878	blood:	n/a	n/a
4	CHD2	chr12:31905006-31905711	GM12878	blood:	n/a	n/a
5	MTA3	chr12:31904747-31905689	GM12878	blood:	n/a	n/a
6	RCOR1	chr12:31904843-31905840	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:31904775-31905666	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:31903016-31905710	GM12878	blood:	n/a	n/a
9	USF2	chr12:31905166-31905505	GM12878	blood:	n/a	n/a
10	WRNIP1	chr12:31905081-31905675	GM12878	blood:	n/a	n/a
11	EBF1	chr12:31905259-31905832	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:31905230-31905556	GM12878	blood:	n/a	n/a
13	NR2F2	chr12:31904837-31905462	K562	blood:	n/a	n/a
14	ZNF384	chr12:31904717-31905957	GM12878	blood:	n/a	n/a
15	CUX1	chr12:31905302-31905839	GM12878	blood:	n/a	n/a
16	EP300	chr12:31904954-31905407	GM12878	blood:	n/a	n/a
17	MXI1	chr12:31905080-31905832	GM12878	blood:	n/a	n/a
18	TBP	chr12:31904964-31905733	GM12878	blood:	n/a	n/a
19	ESRRA	chr12:31902945-31906220	GM12878	blood:	n/a	chr12:31905114-31905124 chr12:31905112-31905124 chr12:31905112-31905125 chr12:31905114-31905124
20	CHD1	chr12:31904911-31905466	GM12878	blood:	n/a	n/a
21	NFYB	chr12:31905213-31905517	GM12878	blood:	n/a	n/a
22	MAX	chr12:31904912-31905792	GM12878	blood:	n/a	n/a
23	MAFK	chr12:31905315-31905633	HepG2	liver:	n/a	n/a
24	MAZ	chr12:31905077-31905743	GM12878	blood:	n/a	n/a
25	KAP1	chr12:31904849-31905661	U2OS	brain:	n/a	n/a
26	MAFF	chr12:31905309-31905609	HepG2	liver:	n/a	n/a
27	BRCA1	chr12:31905289-31905411	GM12878	blood:	n/a	n/a
28	NFIC	chr12:31904716-31905769	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:31902962-31905703	GM12878	blood:	n/a	n/a
30	STAT3	chr12:31905248-31905537	GM12878	blood:	n/a	n/a
31	TBL1XR1	chr12:31904899-31905631	GM12878	blood:	n/a	n/a
32	MAFK	chr12:31905349-31905586	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAFK	chr12:31905326-31905588	K562	blood:	n/a	n/a
34	RUNX3	chr12:31904689-31905699	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31900170..31902250-chr12:31904037..31906770,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256843	TF binding region
ENSG00000223722	TF binding region
ENSG00000256843	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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 lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	esv2422415	chr12:31863360-31930722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
13	nsv558101	chr12:31876666-32006563	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv1050448	chr12:31877289-31927006	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv558102	chr12:31889824-31907409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv975473	chr12:31895430-31908180	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv8940	chr12:31899904-31987363	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv442261	chr12:31900550-31909906	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv2421936	chr12:31900550-31909908	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	esv2760910	chr12:31900550-31909908	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv558103	chr12:31900550-31909908	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv558104	chr12:31900550-31910908	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv558105	chr12:31900550-31912588	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv558106	chr12:31900550-31914143	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv558107	chr12:31900550-31919188	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	esv1836353	chr12:31903771-31912588	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	esv1841335	chr12:31903771-31912588	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
28	nsv818904	chr12:31903771-31912588	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
29	nsv515490	chr12:31903771-31919188	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
30	esv11695	chr12:31904381-31911808	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31889400-31905800	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:31893600-31905800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:31900000-31905800	Enhancers	Primary B cells from cord blood	blood
4	chr12:31900000-31906400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:31901000-31909800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:31901800-31905600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr12:31901800-31905800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:31902400-31905400	Weak transcription	Adipose Nuclei	Adipose
9	chr12:31902600-31905400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:31902600-31906400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:31902600-31908600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:31902600-31908600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:31902600-31912800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:31903200-31905600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:31903200-31905600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr12:31903400-31905600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr12:31903400-31905600	Enhancers	Spleen	Spleen
18	chr12:31903600-31905400	Enhancers	Placenta	Placenta
19	chr12:31903600-31912800	Weak transcription	Gastric	stomach
20	chr12:31903800-31905800	Weak transcription	Right Atrium	heart
21	chr12:31903800-31909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:31904000-31905400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:31904000-31905600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr12:31904000-31909600	Weak transcription	HMEC	breast
25	chr12:31904200-31908400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:31904200-31909600	Weak transcription	Hela-S3	cervix
27	chr12:31904200-31909800	Weak transcription	Small Intestine	intestine
28	chr12:31904200-31909800	Weak transcription	Stomach Mucosa	stomach
29	chr12:31904400-31905800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:31904400-31905800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:31904600-31905600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:31904600-31905600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr12:31904600-31908400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:31904800-31905400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:31904800-31905400	Enhancers	HepG2	liver
36	chr12:31904800-31905600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:31904800-31905600	Enhancers	Fetal Thymus	thymus
38	chr12:31904800-31905600	Enhancers	A549	lung
39	chr12:31904800-31905600	Flanking Active TSS	Dnd41	blood
40	chr12:31904800-31905600	Enhancers	K562	blood
41	chr12:31904800-31909800	Weak transcription	HUVEC	blood vessel
42	chr12:31905000-31905400	Enhancers	Thymus	Thymus
43	chr12:31905000-31905400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr12:31905000-31905600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:31905000-31905600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:31905000-31905600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr12:31905000-31905600	Flanking Active TSS	GM12878-XiMat	blood
48	chr12:31905000-31909800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:31905200-31905400	Enhancers	Primary T cells from cord blood	blood
50	chr12:31905200-31905600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links