Variant report

Variant	rs67178535
Chromosome Location	chr12:124196299-124196300
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124196128-124196346	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr12:124196152-124197267	HepG2	liver:	n/a	n/a
3	MAX	chr12:124196062-124196319	K562	blood:	n/a	n/a
4	MTA3	chr12:124196294-124197131	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:124196213-124197457	MCF-7	breast:	n/a	n/a
6	POLR2A	chr12:124196231-124198295	Raji	blood:	n/a	n/a
7	MAX	chr12:124196125-124196320	HepG2	liver:	n/a	n/a
8	MYC	chr12:124196293-124197601	A549	lung:	n/a	chr12:124197137-124197147
9	HEY1	chr12:124196039-124197170	HepG2	liver:	n/a	chr12:124196989-124197004
10	POLR2A	chr12:124196251-124197445	PFSK-1	brain:	n/a	n/a
11	MAX	chr12:124195998-124197529	HepG2	liver:	n/a	chr12:124197137-124197147
12	MXI1	chr12:124195959-124198531	SK-N-SH	brain:	n/a	n/a
13	SIN3AK20	chr12:124196048-124197322	MCF-7	breast:	n/a	n/a
14	NR2F2	chr12:124195893-124196436	K562	blood:	n/a	n/a
15	HEY1	chr12:124196057-124197112	HepG2	liver:	n/a	chr12:124196989-124197004
16	E2F6	chr12:124196051-124197057	A549	lung:	n/a	n/a
17	ZNF384	chr12:124195988-124196894	K562	blood:	n/a	n/a
18	UBTF	chr12:124196121-124198392	K562	blood:	n/a	n/a
19	POLR2A	chr12:124195679-124199261	K562	blood:	n/a	n/a
20	POLR2A	chr12:124195726-124198316	HepG2	liver:	n/a	n/a
21	POLR2A	chr12:124195635-124197870	K562	blood:	n/a	n/a
22	MXI1	chr12:124195981-124197956	IMR90	lung:	n/a	n/a
23	MYC	chr12:124196127-124197719	K562	blood:	n/a	chr12:124197137-124197147
24	POLR2A	chr12:124196264-124199212	K562	blood:	n/a	n/a
25	POLR2A	chr12:124195721-124199178	K562	blood:	n/a	n/a
26	POLR2A	chr12:124195492-124197532	HepG2	liver:	n/a	n/a
27	MAX	chr12:124196086-124197686	A549	lung:	n/a	chr12:124197137-124197147
28	POLR2A	chr12:124196277-124197171	HepG2	liver:	n/a	n/a
29	MAX	chr12:124196020-124197541	K562	blood:	n/a	chr12:124197137-124197147
30	POLR2A	chr12:124196140-124196435	K562	blood:	n/a	n/a
31	REST	chr12:124196257-124197704	H1-neurons	neurons:	n/a	chr12:124197263-124197276 chr12:124197493-124197506
32	CREB1	chr12:124196068-124197530	HepG2	liver:	n/a	n/a
33	MAX	chr12:124196086-124197506	A549	lung:	n/a	chr12:124197137-124197147
34	POLR2A	chr12:124196171-124197221	K562	blood:	n/a	n/a
35	POLR2A	chr12:124196202-124197194	HEK293	kidney:	n/a	n/a
36	BHLHE40	chr12:124196288-124196865	K562	blood:	n/a	chr12:124196748-124196764
37	MAZ	chr12:124196283-124197963	IMR90	lung:	n/a	n/a
38	ZNF263	chr12:124195765-124199297	HEK293-T-REx	kidney:	n/a	n/a
39	POLR2A	chr12:124196253-124197258	Gliobla	brain:	n/a	n/a
40	POLR2A	chr12:124195961-124197149	PANC-1	pancreas:	n/a	n/a
41	MAX	chr12:124196027-124197531	HCT-116	colon:	n/a	chr12:124197137-124197147
42	HCFC1	chr12:124196245-124198399	Hela-S3	cervix:	n/a	n/a
43	MXI1	chr12:124196139-124197327	HepG2	liver:	n/a	n/a
44	UBTF	chr12:124196191-124197604	K562	blood:	n/a	n/a
45	POLR2A	chr12:124196298-124197342	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr12:124196256-124197376	K562	blood:	n/a	chr12:124197137-124197147
47	POLR2A	chr12:124195999-124198372	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr12:124196114-124197033	HepG2	liver:	n/a	n/a
49	MAX	chr12:124196098-124197470	H1-hESC	embryonic stem cell:	n/a	chr12:124197137-124197147
50	E2F6	chr12:124196099-124196334	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123847805..123850449-chr12:124195534..124198038,2	K562	blood:
2	chr12:124194853..124196399-chr12:124201524..124203920,2	K562	blood:
3	chr12:123716636..123719388-chr12:124194108..124196844,2	K562	blood:
4	chr12:124116424..124121252-chr12:124194298..124198817,7	K562	blood:
5	chr12:124190696..124192494-chr12:124194252..124196865,2	K562	blood:
6	chr12:124185982..124187602-chr12:124193943..124196577,2	K562	blood:
7	chr12:124191295..124193347-chr12:124194777..124198625,4	MCF-7	breast:
8	chr12:124141910..124144216-chr12:124195360..124197441,2	MCF-7	breast:
9	chr12:124155376..124157580-chr12:124194948..124197481,2	K562	blood:
10	chr12:124195456..124198460-chr12:124455550..124458339,3	MCF-7	breast:
11	chr12:124195458..124197705-chr12:124223204..124225071,2	MCF-7	breast:
12	chr12:124115420..124119615-chr12:124195159..124199573,8	MCF-7	breast:
13	chr12:124195749..124198082-chr12:124236149..124239807,3	MCF-7	breast:
14	chr12:124155436..124158746-chr12:124195101..124198299,4	MCF-7	breast:
15	chr12:124195139..124196741-chr12:124216677..124218308,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255839	TF binding region
ATP6V0A2	TF binding region
ENSG00000179195	Chromatin interaction
ENSG00000255839	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000168778	Chromatin interaction
ENSG00000130921	Chromatin interaction

Extended variants
information (count: 175 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:171)

rs_ID	r²[population]
rs10160937	0.83[ASN][1000 genomes]
rs1040156	0.83[ASN][1000 genomes]
rs1051793	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1060637	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1060639	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10732574	0.83[ASN][1000 genomes]
rs10734903	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10734905	0.83[ASN][1000 genomes]
rs10734906	0.83[ASN][1000 genomes]
rs10744157	0.83[ASN][1000 genomes]
rs10744158	0.83[ASN][1000 genomes]
rs10744159	0.83[ASN][1000 genomes]
rs10773026	0.83[ASN][1000 genomes]
rs10773030	0.83[ASN][1000 genomes]
rs10846537	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10846549	0.86[ASN][1000 genomes]
rs10846550	0.81[ASN][1000 genomes]
rs1139320	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1139789	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11572920	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11572952	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11609591	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11610473	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11611354	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611450	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612030	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612479	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612927	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11613632	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614155	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614468	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614659	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615162	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11829958	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11830462	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831536	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833604	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834141	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11834492	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834808	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837144	0.83[ASN][1000 genomes]
rs12580486	0.83[ASN][1000 genomes]
rs12811354	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813758	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12817576	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12817757	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818596	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819746	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12820195	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821242	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822546	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823866	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824075	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825800	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12827074	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828408	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12828633	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12829893	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829984	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830927	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12831081	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1399961	0.83[ASN][1000 genomes]
rs1515815	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1878077	0.83[ASN][1000 genomes]
rs1962020	0.92[EUR][1000 genomes]
rs2176152	0.83[ASN][1000 genomes]
rs2203500	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222060	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250026	0.82[EUR][1000 genomes]
rs2271660	0.83[ASN][1000 genomes]
rs2271661	0.83[ASN][1000 genomes]
rs2271662	0.83[ASN][1000 genomes]
rs2333836	0.83[ASN][1000 genomes]
rs2333838	0.83[ASN][1000 genomes]
rs2333839	0.83[ASN][1000 genomes]
rs2333840	0.83[ASN][1000 genomes]
rs34534928	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34996665	0.86[ASN][1000 genomes]
rs35114195	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35158437	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35416308	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35649708	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35804181	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35900897	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35911711	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35946281	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36018806	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3817309	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4930708	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6488888	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6488891	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488892	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488893	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488894	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488897	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66471742	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66647364	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66690784	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67516712	0.86[EUR][1000 genomes]
rs7132115	0.83[ASN][1000 genomes]
rs7133199	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7133543	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133734	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7134074	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7135267	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7135660	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136939	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138503	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71458814	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7294984	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7295552	0.83[ASN][1000 genomes]
rs7296804	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297576	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7298440	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298831	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7300721	0.83[ASN][1000 genomes]
rs7301065	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7301641	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7302649	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302788	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304052	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304837	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305701	0.93[ASN][1000 genomes]
rs7305838	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306549	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7307008	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307343	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308234	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308398	0.83[ASN][1000 genomes]
rs7308862	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7309528	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310918	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311789	0.83[ASN][1000 genomes]
rs7313032	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7313140	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7313261	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73219037	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397160	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397230	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397930	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7398082	0.83[ASN][1000 genomes]
rs7398152	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7398298	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7399128	0.83[ASN][1000 genomes]
rs7399224	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953596	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953599	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956751	0.83[ASN][1000 genomes]
rs7957429	1.00[ASN][1000 genomes]
rs7958693	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7959553	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960017	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7960403	0.83[ASN][1000 genomes]
rs7960951	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7963498	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963968	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964443	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7968029	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969130	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969234	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969964	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973155	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973695	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974279	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7974331	0.83[ASN][1000 genomes]
rs7975119	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975233	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978447	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979528	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968203	0.83[ASN][1000 genomes]
rs9787987	0.80[EUR][1000 genomes];0.83[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
rs67178535	TCTN2	cis	lung	GTEx
rs67178535	TCTN2	cis	Artery Tibial	GTEx
rs67178535	ATP6V0A2	cis	Adipose Subcutaneous	GTEx
rs67178535	TCTN2	cis	Muscle Skeletal	GTEx
rs67178535	TCTN2	cis	Adipose Subcutaneous	GTEx
rs67178535	TCTN2	cis	Nerve Tibial	GTEx
rs67178535	ATP6V0A2	cis	Nerve Tibial	GTEx
rs67178535	TCTN2	cis	Thyroid	GTEx
rs67178535	TCTN2	cis	Skin Sun Exposed Lower leg	GTEx
rs67178535	TCTN2	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124176200-124196400	Weak transcription	Gastric	stomach
2	chr12:124195800-124196400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:124195800-124196400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:124195800-124196400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:124195800-124196400	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr12:124195800-124196400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr12:124195800-124196400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr12:124195800-124196400	Enhancers	Spleen	Spleen
9	chr12:124195800-124196400	Flanking Active TSS	Dnd41	blood
10	chr12:124195800-124196600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:124195800-124196600	Enhancers	Fetal Brain Male	brain
12	chr12:124195800-124197600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:124195800-124197600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:124195800-124197800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr12:124195800-124197800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:124195800-124197800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr12:124196000-124196400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:124196000-124196400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:124196000-124196400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr12:124196000-124196400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr12:124196000-124196400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr12:124196000-124196400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr12:124196000-124196400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr12:124196000-124196400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:124196000-124196400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr12:124196000-124196400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr12:124196000-124196400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:124196000-124196400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr12:124196000-124196400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr12:124196000-124196400	Flanking Active TSS	Liver	Liver
31	chr12:124196000-124196400	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr12:124196000-124196400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr12:124196000-124196400	Flanking Active TSS	Colonic Mucosa	Colon
34	chr12:124196000-124196400	Flanking Active TSS	Fetal Brain Female	brain
35	chr12:124196000-124196400	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr12:124196000-124196400	Flanking Active TSS	Fetal Lung	lung
37	chr12:124196000-124196400	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr12:124196000-124196400	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr12:124196000-124196400	Flanking Active TSS	Placenta	Placenta
40	chr12:124196000-124196400	Flanking Active TSS	Fetal Stomach	stomach
41	chr12:124196000-124196400	Flanking Active TSS	Hela-S3	cervix
42	chr12:124196000-124196400	Flanking Active TSS	HMEC	breast
43	chr12:124196000-124196400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr12:124196000-124196400	Flanking Active TSS	NH-A	brain
45	chr12:124196000-124196600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:124196000-124196600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr12:124196000-124196600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:124196000-124196600	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr12:124196000-124196600	Active TSS	Right Atrium	heart
50	chr12:124196000-124196600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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