Variant report

Variant	rs55824803
Chromosome Location	chr12:9601154-9601155
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	POLR2A	chr12:9599385-9601550	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:9600291-9601400	K562	blood:	n/a	n/a
3	POLR2A	chr12:9600346-9601334	MCF-7	breast:	n/a	n/a
4	HA-E2F1	chr12:9600242-9601568	MCF-7	breast:	n/a	chr12:9600732-9600742 chr12:9600552-9600559 chr12:9600838-9600849 chr12:9600552-9600559 chr12:9600820-9600829 chr12:9600552-9600559 chr12:9600551-9600563
5	SP1	chr12:9599975-9601435	A549	lung:	n/a	chr12:9600870-9600880 chr12:9600870-9600880 chr12:9600871-9600880 chr12:9600527-9600541
6	FOXM1	chr12:9600077-9601305	GM12878	blood:	n/a	n/a
7	TAF1	chr12:9599693-9601672	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:9600426-9602621	PBDE	blood:	n/a	n/a
9	PBX3	chr12:9601068-9601306	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:9599378-9601192	GM12891	blood:	n/a	n/a
11	HDAC2	chr12:9600760-9601155	H1-hESC	embryonic stem cell:	n/a	n/a
12	POU2F2	chr12:9599374-9601626	GM12891	blood:	n/a	chr12:9600809-9600821
13	POLR2A	chr12:9600594-9601162	K562	blood:	n/a	n/a
14	MTA3	chr12:9600747-9601162	GM12878	blood:	n/a	n/a
15	STAT5A	chr12:9600248-9601165	K562	blood:	n/a	n/a
16	POLR2A	chr12:9599919-9601489	K562	blood:	n/a	n/a
17	FOSL2	chr12:9601081-9601557	HepG2	liver:	n/a	chr12:9601431-9601440
18	POLR2A	chr12:9598028-9602533	GM12892	blood:	n/a	n/a
19	E2F4	chr12:9600366-9601161	Hela-S3	cervix:	n/a	chr12:9600732-9600742 chr12:9600552-9600559 chr12:9600552-9600559 chr12:9600820-9600829 chr12:9600552-9600559 chr12:9600551-9600563
20	SIN3AK20	chr12:9599838-9601161	HepG2	liver:	n/a	n/a
21	POLR2A	chr12:9599195-9601621	GM12892	blood:	n/a	n/a
22	TCF12	chr12:9600278-9601223	A549	lung:	n/a	chr12:9600942-9600949 chr12:9600982-9600989
23	FOXM1	chr12:9599571-9601198	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:9599794-9601351	A549	lung:	n/a	n/a
25	POLR2A	chr12:9599551-9601155	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr12:9598121-9601344	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:9598738-9601336	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:9600299-9601177	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr12:9599492-9601534	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr12:9599890-9601444	PANC-1	pancreas:	n/a	n/a
31	POLR2A	chr12:9600279-9601163	U87	brain:	n/a	n/a
32	POLR2A	chr12:9599628-9601353	GM12878	blood:	n/a	n/a
33	TCF12	chr12:9599673-9601251	GM12878	blood:	n/a	chr12:9600942-9600949 chr12:9600982-9600989 chr12:9599887-9599894
34	SP1	chr12:9600080-9601199	A549	lung:	n/a	chr12:9600870-9600880 chr12:9600870-9600880 chr12:9600871-9600880 chr12:9600527-9600541
35	POLR2A	chr12:9599875-9601393	Hela-S3	cervix:	n/a	n/a
36	GATA2	chr12:9600723-9601169	K562	blood:	n/a	n/a
37	POLR2A	chr12:9599833-9601291	U87	brain:	n/a	n/a
38	POLR2A	chr12:9600113-9601222	ProgFib	skin:	n/a	n/a
39	E2F4	chr12:9600366-9601170	MCF10A-Er-Src	breast:	n/a	chr12:9600732-9600742 chr12:9600552-9600559 chr12:9600552-9600559 chr12:9600820-9600829 chr12:9600552-9600559 chr12:9600551-9600563
40	UBTF	chr12:9600961-9601161	K562	blood:	n/a	n/a
41	POLR2A	chr12:9600196-9601279	Gliobla	brain:	n/a	n/a
42	HEY1	chr12:9599321-9601609	K562	blood:	n/a	n/a
43	RCOR1	chr12:9600893-9601171	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:9600292-9601846	MCF10A-Er-Src	breast:	n/a	n/a
45	TCF12	chr12:9600821-9601243	GM12878	blood:	n/a	chr12:9600942-9600949 chr12:9600982-9600989
46	FOXA2	chr12:9600142-9601166	A549	lung:	n/a	n/a
47	EBF1	chr12:9599032-9601315	GM12878	blood:	n/a	n/a
48	MXI1	chr12:9600362-9601158	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr12:9599354-9601654	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr12:9599794-9601592	SK-N-MC	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:9601149-9601199	PrEC	prostate:	n/a
2	chr12:9601149-9601199	AG04450	lung:	fetal
3	chr12:9601149-9601199	HRE	kidney:	n/a
4	chr12:9601149-9601199	CMK	blood:	n/a
5	chr12:9601149-9601199	PFSK-1	brain:	n/a
6	chr12:9601149-9601199	HL-60	blood:	n/a
7	chr12:9601149-9601199	A549	lung:	n/a
8	chr12:9601149-9601199	GM06990	blood:	n/a
9	chr12:9601149-9601199	NT2-D1	testis:	n/a
10	chr12:9601149-9601199	HepG2	liver:	n/a
11	chr12:9601149-9601199	BE2_C	brain:	n/a
12	chr12:9601149-9601199	GM12891	blood:	n/a
13	chr12:9601149-9601199	HRCEpiC	kidney:	n/a
14	chr12:9601149-9601199	NHBE	bronchial:	n/a
15	chr12:9601149-9601199	Caco-2	colon:	n/a
16	chr12:9601149-9601199	HPAEpiC	pulmonary alveolar:	n/a
17	chr12:9601149-9601199	Jurkat	blood:	n/a
18	chr12:9601149-9601199	RPTEC	kidney:	n/a
19	chr12:9601149-9601199	AG04449	skin:	fetal
20	chr12:9601149-9601199	NHDF-neo	bronchial:	n/a
21	chr12:9601149-9601199	Hepatocyte	liver:	n/a
22	chr12:9601149-9601199	HRPEpiC	eye:	n/a
23	chr12:9601149-9601199	MCF10A-Er-Src	breast:	n/a
24	chr12:9601149-9601199	HCT-116	colon:	n/a
25	chr12:9601149-9601199	IMR90	lung:	fetal
26	chr12:9601149-9601199	HEEpiC	esophagus:	n/a
27	chr12:9601149-9601199	ovcar-3	ovarian:	n/a
28	chr12:9601149-9601199	ECC-1	luminal epithelium:	n/a
29	chr12:9601149-9601199	AoSMC	blood vessel:	n/a
30	chr12:9601149-9601199	HIPEpiC	eye:	n/a
31	chr12:9601149-9601199	AG10803	skin:	n/a
32	chr12:9601149-9601199	SK-N-MC	brain:	n/a
33	chr12:9601149-9601199	T-47D	breast:	n/a
34	chr12:9601149-9601199	SAEC	small airway:	n/a
35	chr12:9601149-9601199	AG09309	skin:	n/a
36	chr12:9601149-9601199	H1-hESC	embryonic stem cell:	embryo
37	chr12:9601149-9601199	Hela-S3	cervix:	n/a
38	chr12:9601149-9601199	SKMC	muscle:	n/a
39	chr12:9601149-9601199	HAEpiC	amniotic membrane:	n/a
40	chr12:9601149-9601199	K562	blood:	n/a
41	chr12:9601149-9601199	AG09319	gingival:	n/a
42	chr12:9601149-9601199	ProgFib	skin:	n/a
43	chr12:9601149-9601199	GM12892	blood:	n/a
44	chr12:9601149-9601199	U87	brain:	n/a
45	chr12:9601149-9601199	MCF-7	breast:	n/a
46	chr12:9601149-9601199	HCM	heart:	n/a
47	chr12:9601149-9601199	PANC-1	pancreas:	n/a
48	chr12:9601149-9601199	HCF	heart:	n/a
49	chr12:9601149-9601199	HCPEpiC	choroid plexus:	n/a
50	chr12:9601149-9601199	NB4	blood:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC2D-2	chr12:9600969-9601474	XLOC_009653
2	lnc-CLEC2D-2	chr12:9600944-9601474	FPKM1_group_5754_transcript_1

Variant related genes	Relation type
DDX12P	TF binding region
DDX12P	CpG island

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11830335	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55955752	0.82[ASN][1000 genomes]
rs7133695	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7954732	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7980907	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	nsv916832	chr12:9397450-9693952	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1050161	chr12:9436635-9685768	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv898744	chr12:9518222-9668380	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv898745	chr12:9529015-9716126	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv1825533	chr12:9541542-9736409	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv508665	chr12:9546233-9601755	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv2568009	chr12:9550935-9731598	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv557357	chr12:9551375-9726469	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv1803766	chr12:9555110-9650458	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv557362	chr12:9555110-9720235	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv557367	chr12:9555375-9617083	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv557368	chr12:9555375-9658741	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv1841111	chr12:9555375-9720235	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv557369	chr12:9555375-9720235	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	esv1839054	chr12:9555375-9726469	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	esv1840300	chr12:9555375-9730427	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	esv1836556	chr12:9555805-9714330	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	esv1835576	chr12:9555805-9720235	ZNF genes & repeats Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv557379	chr12:9556034-9730427	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv557383	chr12:9556263-9720235	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv557386	chr12:9556935-9720235	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv557387	chr12:9557465-9621533	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
26	esv1834422	chr12:9557465-9716126	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	esv1840809	chr12:9557465-9726469	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
28	nsv557389	chr12:9557655-9714330	Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	nsv557390	chr12:9558318-9687201	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
30	nsv557391	chr12:9558318-9714330	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
31	nsv557392	chr12:9558318-9720235	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	9 gene(s)	inside rSNPs	diseases
32	nsv557393	chr12:9558318-9726469	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
33	nsv557394	chr12:9558586-9714330	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
34	nsv557395	chr12:9558745-9720235	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
35	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
36	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
37	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
38	esv1833598	chr12:9562714-9738070	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
39	esv2760270	chr12:9575643-9734970	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
40	esv2760977	chr12:9575676-9734970	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
41	esv2757489	chr12:9583455-9810764	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
42	nsv898746	chr12:9593540-9736279	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
43	nsv975443	chr12:9596751-9601469	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:9599400-9601400	Active TSS	GM12878-XiMat	blood
2	chr12:9599400-9601600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:9599400-9602200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:9599600-9601200	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr12:9599600-9601400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:9599600-9601400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:9599600-9601400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:9599600-9601400	Active TSS	Duodenum Mucosa	Duodenum
9	chr12:9599600-9601400	Active TSS	A549	lung
10	chr12:9599600-9601600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:9599600-9601600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:9599600-9601600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:9599600-9601600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:9599600-9601600	Active TSS	HMEC	breast
15	chr12:9599600-9601600	Active TSS	NH-A	brain
16	chr12:9599600-9601600	Active TSS	NHLF	lung
17	chr12:9599600-9601800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr12:9599600-9601800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr12:9599600-9601800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr12:9599600-9601800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:9599600-9602000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr12:9599600-9602000	Active TSS	K562	blood
23	chr12:9599600-9602200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:9599600-9602200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr12:9599600-9602200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr12:9599600-9602400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr12:9599600-9602400	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr12:9599600-9602400	Active TSS	HepG2	liver
29	chr12:9599600-9602400	Active TSS	NHDF-Ad	bronchial
30	chr12:9599600-9602600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:9599600-9603800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:9599800-9601400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:9599800-9601400	Active TSS	Primary T cells from cord blood	blood
34	chr12:9599800-9601400	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr12:9599800-9601400	Active TSS	HSMM	muscle
36	chr12:9599800-9601600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:9599800-9601600	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr12:9599800-9601600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:9599800-9601600	Active TSS	Brain Germinal Matrix	brain
40	chr12:9599800-9601600	Active TSS	Fetal Brain Female	brain
41	chr12:9599800-9601600	Active TSS	Fetal Intestine Large	intestine
42	chr12:9599800-9601600	Active TSS	Fetal Intestine Small	intestine
43	chr12:9599800-9601800	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr12:9599800-9601800	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr12:9599800-9602200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:9599800-9602200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:9599800-9602200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:9599800-9602400	Active TSS	Fetal Kidney	kidney
49	chr12:9599800-9602400	Active TSS	Rectal Smooth Muscle	rectum
50	chr12:9600000-9601200	Active TSS	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links