Variant report

Variant	rs12832940
Chromosome Location	chr12:50678359-50678360
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	chr12:50677070-50678421	HepG2	liver:	n/a	n/a
2	HMGN3	chr12:50678191-50678429	K562	blood:	n/a	n/a
3	RFX5	chr12:50678350-50678369	K562	blood:	n/a	n/a
4	YY1	chr12:50678168-50678371	K562	blood:	n/a	n/a
5	POLR2A	chr12:50676998-50678423	K562	blood:	n/a	n/a
6	POLR2A	chr12:50677044-50678417	K562	blood:	n/a	n/a
7	HEY1	chr12:50677081-50678418	K562	blood:	n/a	n/a
8	MAFK	chr12:50678250-50678375	K562	blood:	n/a	n/a
9	ARID3A	chr12:50678100-50678431	K562	blood:	n/a	n/a
10	POLR2A	chr12:50677951-50678459	K562	blood:	n/a	n/a
11	USF2	chr12:50678191-50678459	K562	blood:	n/a	n/a
12	ELK1	chr12:50678159-50678421	K562	blood:	n/a	n/a
13	IRF1	chr12:50677060-50678413	K562	blood:	n/a	n/a
14	GTF2B	chr12:50678145-50678400	K562	blood:	n/a	n/a
15	SRF	chr12:50678213-50678428	GM12878	blood:	n/a	chr12:50678331-50678349
16	EP300	chr12:50678181-50678452	K562	blood:	n/a	n/a
17	TEAD4	chr12:50677026-50678579	K562	blood:	n/a	n/a
18	MAX	chr12:50678086-50678461	K562	blood:	n/a	chr12:50678348-50678358
19	USF1	chr12:50678136-50678509	K562	blood:	n/a	chr12:50678348-50678359
20	POLR2A	chr12:50678150-50678391	K562	blood:	n/a	n/a
21	CBX3	chr12:50677020-50678589	K562	blood:	n/a	n/a
22	MAX	chr12:50678320-50678428	NB4	blood:	n/a	chr12:50678348-50678358
23	SRF	chr12:50678171-50678564	H1-hESC	embryonic stem cell:	n/a	chr12:50678331-50678349
24	POLR2A	chr12:50678055-50678522	K562	blood:	n/a	n/a
25	USF1	chr12:50678209-50678477	H1-hESC	embryonic stem cell:	n/a	chr12:50678348-50678359
26	IRF1	chr12:50677246-50678402	K562	blood:	n/a	n/a
27	EP300	chr12:50677876-50678361	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:50677003-50678428	K562	blood:	n/a	n/a
29	MAX	chr12:50678247-50678517	K562	blood:	n/a	chr12:50678348-50678358
30	JUND	chr12:50678175-50678380	K562	blood:	n/a	n/a
31	USF1	chr12:50678254-50678415	HepG2	liver:	n/a	chr12:50678348-50678359
32	USF1	chr12:50678246-50678428	SK-N-SH_RA	brain:	n/a	chr12:50678348-50678359
33	RCOR1	chr12:50678199-50678547	K562	blood:	n/a	n/a
34	SRF	chr12:50678242-50678400	GM12878	blood:	n/a	chr12:50678331-50678349
35	SRF	chr12:50678185-50678427	GM12878	blood:	n/a	chr12:50678331-50678349
36	USF1	chr12:50678218-50678414	HepG2	liver:	n/a	chr12:50678348-50678359
37	SRF	chr12:50678115-50678466	ECC-1	luminal epithelium:	n/a	chr12:50678331-50678349
38	POLR2A	chr12:50676901-50678453	K562	blood:	n/a	n/a
39	HEY1	chr12:50678016-50678411	K562	blood:	n/a	n/a
40	POLR2A	chr12:50676890-50678559	K562	blood:	n/a	n/a
41	SRF	chr12:50678069-50678539	K562	blood:	n/a	chr12:50678331-50678349
42	SRF	chr12:50678100-50678519	HepG2	liver:	n/a	chr12:50678331-50678349
43	POLR2A	chr12:50677097-50678393	K562	blood:	n/a	n/a
44	TBL1XR1	chr12:50677767-50678417	K562	blood:	n/a	n/a
45	MAX	chr12:50678187-50678380	K562	blood:	n/a	chr12:50678348-50678358
46	SRF	chr12:50678134-50678479	K562	blood:	n/a	chr12:50678331-50678349
47	USF1	chr12:50678183-50678417	H1-hESC	embryonic stem cell:	n/a	chr12:50678348-50678359
48	SRF	chr12:50677954-50678524	HCT-116	colon:	n/a	chr12:50678331-50678349
49	USF2	chr12:50678227-50678400	GM12878	blood:	n/a	n/a
50	SRF	chr12:50678165-50678475	HepG2	liver:	n/a	chr12:50678331-50678349

No.	Distal block	Cell Line	Cell type
1	chr12:50677350..50679861-chr12:50792501..50795030,2	K562	blood:
2	chr12:50641106..50644296-chr12:50675797..50678807,3	K562	blood:
3	chr12:50467357..50469479-chr12:50676933..50678853,2	K562	blood:
4	chr12:50676754..50678948-chr12:132378610..132380632,2	MCF-7	breast:
5	chr12:50593299..50595374-chr12:50677220..50679734,2	K562	blood:
6	chr12:50676871..50679447-chr12:50689934..50691681,2	K562	blood:
7	chr12:50677251..50678858-chr12:50683227..50685287,2	MCF-7	breast:
8	chr12:50614322..50618314-chr12:50675052..50679891,5	K562	blood:
9	chr12:50617895..50619664-chr12:50676207..50678789,2	MCF-7	breast:
10	chr12:50614024..50616982-chr12:50677879..50679870,2	K562	blood:
11	chr12:50504614..50508392-chr12:50676689..50680044,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LARP4-6	chr12:50677451-50679182	NONHSAT028190

Variant related genes	Relation type
LIMA1	TF binding region
ENSG00000203431	Chromatin interaction
ENSG00000177169	Chromatin interaction
ENSG00000050405	Chromatin interaction
ENSG00000203432	Chromatin interaction
ENSG00000110881	Chromatin interaction
ENSG00000269529	Chromatin interaction
ENSG00000178449	Chromatin interaction
ENSG00000272368	Chromatin interaction
ENSG00000161813	Chromatin interaction

Extended variants
information (count: 145 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10467106	0.82[ASN][1000 genomes]
rs10506292	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783344	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783349	0.91[EUR][1000 genomes]
rs10783350	0.89[EUR][1000 genomes]
rs10783352	0.81[ASN][1000 genomes]
rs10783353	0.87[ASN][1000 genomes]
rs10876013	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876014	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876015	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876016	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876017	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876018	0.89[EUR][1000 genomes]
rs10876023	0.89[ASN][1000 genomes]
rs10876028	0.88[ASN][1000 genomes]
rs11169314	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169315	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169317	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169319	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169322	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169331	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169332	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169335	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169339	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169345	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169347	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169348	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169349	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169350	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169351	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169357	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169359	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169360	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169367	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169369	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169370	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169371	0.90[EUR][1000 genomes]
rs11169373	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169374	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169375	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169376	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169377	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169379	0.89[EUR][1000 genomes]
rs11169386	0.88[EUR][1000 genomes]
rs11169390	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169391	0.88[ASN][1000 genomes]
rs11169395	0.87[ASN][1000 genomes]
rs11836169	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11838347	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299669	0.84[ASN][1000 genomes]
rs12299758	0.87[ASN][1000 genomes]
rs12303082	0.89[ASN][1000 genomes]
rs12312177	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12422417	0.89[ASN][1000 genomes]
rs12424691	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12424713	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12424876	0.88[ASN][1000 genomes]
rs12425229	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12425705	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12426444	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12811291	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12814094	0.89[ASN][1000 genomes]
rs12821454	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12821504	0.86[EUR][1000 genomes]
rs12823506	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12828340	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1362983	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17124562	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1972611	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1984993	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2009072	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2111988	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302900	0.87[EUR][1000 genomes]
rs2358539	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28628775	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34039674	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34614542	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34825838	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34849043	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34858415	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34894919	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35209607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35535298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35663729	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35768991	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35878271	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35933908	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36017775	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3812825	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3861100	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4348979	0.89[ASN][1000 genomes]
rs4421818	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4445717	0.81[ASN][1000 genomes]
rs4768855	0.87[ASN][1000 genomes]
rs4768872	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768949	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768951	0.88[EUR][1000 genomes]
rs6580735	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6580736	0.92[EUR][1000 genomes]
rs6580737	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580738	0.92[EUR][1000 genomes]
rs6580739	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6580740	0.90[EUR][1000 genomes]
rs6580741	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6580743	0.86[ASN][1000 genomes]
rs67138019	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7132551	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7135777	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71465002	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7295847	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7296291	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7301186	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7301189	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7302363	0.89[ASN][1000 genomes]
rs7304445	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305995	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308095	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7308885	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7310541	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7311378	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311491	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311973	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312252	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7314465	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7315871	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7315955	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7399343	0.89[EUR][1000 genomes]
rs7485486	0.90[EUR][1000 genomes]
rs7486747	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7488682	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7489214	0.89[EUR][1000 genomes]
rs7953953	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7956468	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972824	0.84[ASN][1000 genomes]
rs7974648	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7979830	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7980911	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9668187	0.87[ASN][1000 genomes]
rs9705460	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9739363	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv702	chr12:50670870-50715934	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12832940	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs12832940	ATF1	cis	Artery Tibial	GTEx
rs12832940	CERS5	cis	Nerve Tibial	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50676000-50678400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:50676200-50678400	Active TSS	Pancreas	Pancrea
3	chr12:50676400-50678600	Flanking Active TSS	Liver	Liver
4	chr12:50676600-50678400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr12:50676800-50678400	Active TSS	Ovary	ovary
6	chr12:50677400-50678400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr12:50677400-50678400	Flanking Active TSS	HMEC	breast
8	chr12:50677400-50678800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr12:50677600-50678400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:50677600-50678400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:50677600-50678400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr12:50677600-50678400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr12:50677600-50678400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr12:50677600-50678400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:50677600-50678400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:50677600-50678400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:50677600-50678400	Flanking Active TSS	Rectal Smooth Muscle	rectum
18	chr12:50677600-50678400	Flanking Active TSS	Hela-S3	cervix
19	chr12:50677600-50678400	Flanking Active TSS	NHEK	skin
20	chr12:50677600-50678400	Flanking Active TSS	Osteobl	bone
21	chr12:50677600-50678600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr12:50677600-50678800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr12:50677800-50678400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:50677800-50678400	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr12:50677800-50678400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:50677800-50678400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr12:50677800-50678400	Flanking Active TSS	A549	lung
28	chr12:50677800-50678400	Flanking Active TSS	Dnd41	blood
29	chr12:50677800-50678400	Flanking Active TSS	GM12878-XiMat	blood
30	chr12:50677800-50678400	Flanking Active TSS	HSMM	muscle
31	chr12:50677800-50678600	Enhancers	Spleen	Spleen
32	chr12:50677800-50679000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:50677800-50679000	Enhancers	Small Intestine	intestine
34	chr12:50678000-50678400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:50678000-50678400	Enhancers	Fetal Intestine Large	intestine
36	chr12:50678000-50678600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:50678000-50678600	Enhancers	Primary B cells from peripheral blood	blood
38	chr12:50678000-50678600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:50678000-50678600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:50678000-50678600	Enhancers	Fetal Thymus	thymus
41	chr12:50678000-50678600	Active TSS	K562	blood
42	chr12:50678000-50678800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:50678000-50678800	Enhancers	Placenta	Placenta
44	chr12:50678000-50678800	Enhancers	Left Ventricle	heart
45	chr12:50678000-50678800	Active TSS	Stomach Smooth Muscle	stomach
46	chr12:50678000-50679000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:50678000-50679000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr12:50678000-50680000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr12:50678000-50680600	Enhancers	Stomach Mucosa	stomach
50	chr12:50678000-50684400	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links