Variant report

Variant	rs66647364
Chromosome Location	chr12:124197280-124197281
allele	A/C
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	RUNX3	chr12:124196401-124197338	GM12878	blood:	n/a	n/a
2	SIN3AK20	chr12:124196453-124197459	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr12:124196491-124197482	Hela-S3	cervix:	n/a	n/a
4	MYC	chr12:124197000-124197316	H1-hESC	embryonic stem cell:	n/a	chr12:124197137-124197147
5	TAF1	chr12:124196545-124197378	K562	blood:	n/a	n/a
6	GABPA	chr12:124196562-124197317	HepG2	liver:	n/a	n/a
7	ZBTB7A	chr12:124196603-124197416	K562	blood:	n/a	n/a
8	POLR2A	chr12:124196213-124197457	MCF-7	breast:	n/a	n/a
9	POLR2A	chr12:124196231-124198295	Raji	blood:	n/a	n/a
10	POLR2A	chr12:124196482-124197480	K562	blood:	n/a	n/a
11	GABPA	chr12:124196443-124197549	K562	blood:	n/a	n/a
12	BCLAF1	chr12:124196473-124197401	GM12878	blood:	n/a	chr12:124197069-124197078 chr12:124196710-124196723 chr12:124196989-124197002 chr12:124197299-124197312
13	MYC	chr12:124196293-124197601	A549	lung:	n/a	chr12:124197137-124197147
14	CTCF	chr12:124197260-124197410	GM12868	blood:	n/a	n/a
15	POLR2A	chr12:124196437-124197359	GM12891	blood:	n/a	n/a
16	BCLAF1	chr12:124196504-124197316	GM12878	blood:	n/a	chr12:124197069-124197078 chr12:124196710-124196723 chr12:124196989-124197002 chr12:124197299-124197312
17	CHD1	chr12:124196641-124197336	GM12878	blood:	n/a	n/a
18	MXI1	chr12:124196447-124197573	GM12878	blood:	n/a	n/a
19	MAZ	chr12:124196580-124197405	GM12878	blood:	n/a	n/a
20	ETS1	chr12:124196515-124197285	K562	blood:	n/a	chr12:124197243-124197256 chr12:124196719-124196728
21	POLR2A	chr12:124196251-124197445	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr12:124196427-124199209	GM12891	blood:	n/a	n/a
23	MAZ	chr12:124196559-124197351	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr12:124196468-124197525	Hela-S3	cervix:	n/a	n/a
25	MAX	chr12:124195998-124197529	HepG2	liver:	n/a	chr12:124197137-124197147
26	TCF3	chr12:124196471-124197405	GM12878	blood:	n/a	n/a
27	MAZ	chr12:124196486-124197464	K562	blood:	n/a	n/a
28	MXI1	chr12:124195959-124198531	SK-N-SH	brain:	n/a	n/a
29	ELK1	chr12:124196638-124197348	Hela-S3	cervix:	n/a	n/a
30	SIN3AK20	chr12:124196048-124197322	MCF-7	breast:	n/a	n/a
31	SIN3A	chr12:124196382-124198144	H1-hESC	embryonic stem cell:	n/a	chr12:124197305-124197318 chr12:124196744-124196755 chr12:124197367-124197380
32	CTCF	chr12:124197012-124197343	GM12878	blood:	n/a	n/a
33	MAX	chr12:124196450-124197395	SK-N-SH	brain:	n/a	chr12:124197137-124197147
34	MAX	chr12:124196492-124197429	GM12878	blood:	n/a	chr12:124197137-124197147
35	HDAC2	chr12:124197120-124197364	K562	blood:	n/a	n/a
36	POLR2A	chr12:124196409-124197426	GM12892	blood:	n/a	n/a
37	MYC	chr12:124196479-124197324	K562	blood:	n/a	chr12:124197137-124197147
38	MYC	chr12:124196462-124197442	MCF-7	breast:	n/a	chr12:124197137-124197147
39	RCOR1	chr12:124196634-124197542	GM12878	blood:	n/a	n/a
40	UBTF	chr12:124196121-124198392	K562	blood:	n/a	n/a
41	CTCF	chr12:124197220-124197370	BJ	skin:	n/a	n/a
42	POLR2A	chr12:124196355-124199338	GM12892	blood:	n/a	n/a
43	MAX	chr12:124196390-124197590	ECC-1	luminal epithelium:	n/a	chr12:124197137-124197147
44	POLR2A	chr12:124195679-124199261	K562	blood:	n/a	n/a
45	FOXP2	chr12:124196558-124197318	PFSK-1	brain:	n/a	n/a
46	MXI1	chr12:124196963-124197309	H1-hESC	embryonic stem cell:	n/a	n/a
47	YY1	chr12:124196543-124197493	GM12878	blood:	n/a	chr12:124197070-124197079 chr12:124197065-124197079
48	POLR2A	chr12:124195726-124198316	HepG2	liver:	n/a	n/a
49	POLR2A	chr12:124195635-124197870	K562	blood:	n/a	n/a
50	YY1	chr12:124196471-124197325	HepG2	liver:	n/a	chr12:124197070-124197079 chr12:124197065-124197079

No.	Distal block	Cell Line	Cell type
1	chr12:123847805..123850449-chr12:124195534..124198038,2	K562	blood:
2	chr12:124118119..124120182-chr12:124196891..124198426,2	K562	blood:
3	chr12:124196655..124197422-chr7:107220206..107220978,2	Hela-S3	cervix:
4	chr12:124116424..124121252-chr12:124194298..124198817,7	K562	blood:
5	chr12:124196776..124197549-chr19:531664..532196,2	HCT-116	colon:
6	chr12:124157620..124159905-chr12:124196914..124199226,2	K562	blood:
7	chr12:124191295..124193347-chr12:124194777..124198625,4	MCF-7	breast:
8	chr12:124134030..124137334-chr12:124197093..124199913,4	MCF-7	breast:
9	chr12:124141910..124144216-chr12:124195360..124197441,2	MCF-7	breast:
10	chr12:124155376..124157580-chr12:124194948..124197481,2	K562	blood:
11	chr12:124195456..124198460-chr12:124455550..124458339,3	MCF-7	breast:
12	chr12:124195458..124197705-chr12:124223204..124225071,2	MCF-7	breast:
13	chr12:124115420..124119615-chr12:124195159..124199573,8	MCF-7	breast:
14	chr12:124197009..124198582-chr12:124204764..124206340,3	MCF-7	breast:
15	chr12:124195749..124198082-chr12:124236149..124239807,3	MCF-7	breast:
16	chr12:124155436..124158746-chr12:124195101..124198299,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255839	TF binding region
ENSG00000111358	Chromatin interaction
ENSG00000075790	Chromatin interaction
ENSG00000239215	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000272854	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000099804	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000255839	Chromatin interaction
ENSG00000168778	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000178882	Chromatin interaction

Extended variants
information (count: 195 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:191)

rs_ID	r²[population]
rs10160842	0.87[ASN][1000 genomes]
rs10160937	0.81[ASN][1000 genomes]
rs1040156	0.81[ASN][1000 genomes]
rs1051793	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10732574	0.81[ASN][1000 genomes]
rs10734903	0.81[ASN][1000 genomes]
rs10734905	0.81[ASN][1000 genomes]
rs10734906	0.81[ASN][1000 genomes]
rs10734908	0.87[ASN][1000 genomes]
rs10744157	0.81[ASN][1000 genomes]
rs10744158	0.81[ASN][1000 genomes]
rs10744159	0.81[ASN][1000 genomes]
rs10744160	0.87[ASN][1000 genomes]
rs10773026	0.81[ASN][1000 genomes]
rs10773030	0.81[ASN][1000 genomes]
rs10773032	0.87[ASN][1000 genomes]
rs10773034	0.87[ASN][1000 genomes]
rs10846537	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10846540	0.81[EUR][1000 genomes]
rs10846549	0.84[ASN][1000 genomes]
rs1139320	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1139789	0.81[ASN][1000 genomes]
rs11572920	0.87[ASN][1000 genomes]
rs11572952	0.87[ASN][1000 genomes]
rs11609591	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11611354	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11611450	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11612030	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11612479	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11612927	0.87[ASN][1000 genomes]
rs11613632	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11614155	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11614468	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11614659	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11615162	0.87[ASN][1000 genomes]
rs11615300	0.83[EUR][1000 genomes]
rs11829958	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11830462	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11831536	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11833604	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11834141	0.87[EUR][1000 genomes]
rs11834492	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11834808	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11837144	0.81[ASN][1000 genomes]
rs12580486	0.81[ASN][1000 genomes]
rs12811354	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12813346	0.81[EUR][1000 genomes]
rs12813758	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12817576	0.87[ASN][1000 genomes]
rs12817757	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12818596	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12819746	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12820195	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12821219	0.81[EUR][1000 genomes]
rs12821242	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12822546	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12823866	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12824075	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12825800	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12827074	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12828408	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12828633	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12829893	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12829984	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12830927	0.87[ASN][1000 genomes]
rs12831081	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1399961	0.81[ASN][1000 genomes]
rs1878077	0.81[ASN][1000 genomes]
rs1962020	0.85[EUR][1000 genomes]
rs2176152	0.81[ASN][1000 genomes]
rs2203500	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2222060	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2222061	0.83[EUR][1000 genomes]
rs2250026	0.87[EUR][1000 genomes]
rs2271660	0.81[ASN][1000 genomes]
rs2271661	0.81[ASN][1000 genomes]
rs2271662	0.81[ASN][1000 genomes]
rs2333836	0.81[ASN][1000 genomes]
rs2333837	0.84[ASN][1000 genomes]
rs2333838	0.81[ASN][1000 genomes]
rs2333839	0.81[ASN][1000 genomes]
rs2333840	0.81[ASN][1000 genomes]
rs34247974	0.87[ASN][1000 genomes]
rs34534928	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34996665	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35114195	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35158437	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35416308	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35649708	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35804181	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35900897	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35911711	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35946281	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3817309	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930708	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6488888	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6488891	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6488892	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6488893	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6488894	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6488897	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6488899	0.87[ASN][1000 genomes]
rs66471742	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66690784	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67178535	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67516712	0.92[EUR][1000 genomes]
rs7132115	0.81[ASN][1000 genomes]
rs7133199	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7133543	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7133734	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7134074	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7135267	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7135660	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7136939	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7137946	0.82[EUR][1000 genomes]
rs7138503	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7139193	0.82[EUR][1000 genomes]
rs71458814	0.90[EUR][1000 genomes]
rs7294984	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7295552	0.81[ASN][1000 genomes]
rs7296804	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7297576	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7298440	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7298831	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7300721	0.81[ASN][1000 genomes]
rs7301065	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7301641	0.81[ASN][1000 genomes]
rs7301907	0.82[EUR][1000 genomes]
rs7302449	0.82[EUR][1000 genomes]
rs7302649	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7302788	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7304052	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7304837	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7305701	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7305838	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7306549	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7307008	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7307343	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7308234	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7308398	0.81[ASN][1000 genomes]
rs7308862	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7309528	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7310918	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311789	0.81[ASN][1000 genomes]
rs7313032	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7313140	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7313261	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73219037	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7397160	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7397230	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7397745	0.87[ASN][1000 genomes]
rs7397746	0.82[ASN][1000 genomes]
rs7397930	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7398082	0.81[ASN][1000 genomes]
rs7398152	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7398298	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7398384	0.84[ASN][1000 genomes]
rs7398606	0.87[ASN][1000 genomes]
rs7398641	0.87[ASN][1000 genomes]
rs7398851	0.87[ASN][1000 genomes]
rs7399128	0.81[ASN][1000 genomes]
rs7399224	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7953596	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7953599	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7956751	0.81[ASN][1000 genomes]
rs7957429	0.90[ASN][1000 genomes]
rs7958693	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7959553	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7960017	0.84[ASN][1000 genomes]
rs7960403	0.81[ASN][1000 genomes]
rs7960951	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7963498	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7963968	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7964443	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7966867	0.82[EUR][1000 genomes]
rs7968029	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7969130	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7969234	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7969964	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7973155	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7973695	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7974279	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7974331	0.81[ASN][1000 genomes]
rs7975119	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7975233	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7978447	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7979528	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs882563	0.87[ASN][1000 genomes]
rs968203	0.81[ASN][1000 genomes]
rs9787987	0.81[ASN][1000 genomes]
rs9788204	0.87[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	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv832534	chr12:124157605-124234611	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs66647364	TCTN2	cis	Esophagus Muscularis	GTEx
rs66647364	TCTN2	cis	Artery Tibial	GTEx
rs66647364	TCTN2	cis	Adipose Subcutaneous	GTEx
rs66647364	TCTN2	cis	Muscle Skeletal	GTEx
rs66647364	TCTN2	cis	Thyroid	GTEx
rs66647364	TCTN2	cis	lung	GTEx
rs66647364	TCTN2	cis	Skin Sun Exposed Lower leg	GTEx
rs66647364	ATP6V0A2	cis	Nerve Tibial	GTEx
rs66647364	TCTN2	cis	Stomach	GTEx
rs66647364	TCTN2	cis	Nerve Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124195800-124197600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:124195800-124197600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:124195800-124197800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr12:124195800-124197800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:124195800-124197800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:124196000-124197400	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr12:124196000-124197600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:124196000-124197600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:124196000-124197600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:124196000-124197600	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr12:124196000-124197600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr12:124196000-124197600	Active TSS	Brain Cingulate Gyrus	brain
13	chr12:124196000-124197600	Active TSS	Colon Smooth Muscle	Colon
14	chr12:124196000-124197600	Active TSS	Left Ventricle	heart
15	chr12:124196000-124197600	Active TSS	Rectal Smooth Muscle	rectum
16	chr12:124196000-124197600	Active TSS	Right Ventricle	heart
17	chr12:124196000-124197600	Active TSS	Thymus	Thymus
18	chr12:124196000-124197600	Active TSS	A549	lung
19	chr12:124196000-124197600	Active TSS	Osteobl	bone
20	chr12:124196000-124197800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr12:124196000-124197800	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr12:124196000-124197800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:124196000-124197800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:124196000-124197800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:124196000-124197800	Active TSS	Brain Anterior Caudate	brain
26	chr12:124196000-124197800	Active TSS	Fetal Kidney	kidney
27	chr12:124196000-124197800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr12:124196000-124197800	Active TSS	Ovary	ovary
29	chr12:124196000-124198000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr12:124196000-124198000	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr12:124196000-124198000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:124196000-124198000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:124196000-124198200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:124196000-124198200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:124196000-124198400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr12:124196000-124198400	Active TSS	Psoas Muscle	Psoas
37	chr12:124196200-124197400	Active TSS	Primary T cells from cord blood	blood
38	chr12:124196200-124197400	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr12:124196200-124197600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr12:124196200-124197600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:124196200-124197600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:124196200-124197600	Active TSS	Brain Angular Gyrus	brain
43	chr12:124196200-124197600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:124196200-124197600	Active TSS	Esophagus	oesophagus
45	chr12:124196200-124197600	Active TSS	Fetal Heart	heart
46	chr12:124196200-124197600	Active TSS	Stomach Mucosa	stomach
47	chr12:124196200-124197600	Active TSS	NHEK	skin
48	chr12:124196200-124197800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:124196200-124197800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:124196200-124197800	Active TSS	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links