Variant report

Variant	rs1139829
Chromosome Location	chr2:99225168-99225169
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	MAFK	chr2:99224512-99225247	Hela-S3	cervix:	n/a	chr2:99225134-99225149
2	POLR2A	chr2:99223581-99226273	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr2:99224627-99225413	A549	lung:	n/a	n/a
4	POLR2A	chr2:99224560-99225731	MCF-7	breast:	n/a	n/a
5	REST	chr2:99224565-99225300	HepG2	liver:	n/a	n/a
6	HEY1	chr2:99224628-99225757	HepG2	liver:	n/a	chr2:99225561-99225576 chr2:99225031-99225046 chr2:99225602-99225617
7	ELF1	chr2:99224533-99225409	GM12878	blood:	n/a	chr2:99224682-99224691 chr2:99224956-99224969
8	POLR2A	chr2:99224421-99225521	H1-neurons	neurons:	n/a	n/a
9	HDAC2	chr2:99224552-99225314	HepG2	liver:	n/a	n/a
10	SIN3AK20	chr2:99224677-99225265	H1-hESC	embryonic stem cell:	n/a	n/a
11	EP300	chr2:99224807-99225427	K562	blood:	n/a	chr2:99224980-99224987 chr2:99225116-99225132
12	POLR2A	chr2:99224537-99225750	K562	blood:	n/a	n/a
13	POLR2A	chr2:99222297-99227404	K562	blood:	n/a	n/a
14	SIN3AK20	chr2:99224467-99225456	K562	blood:	n/a	n/a
15	CTCF	chr2:99225120-99225270	Hela-S3	cervix:	n/a	chr2:99225130-99225143
16	POLR2A	chr2:99224629-99225348	A549	lung:	n/a	n/a
17	CEBPD	chr2:99224644-99225372	K562	blood:	n/a	n/a
18	POLR2A	chr2:99224077-99226179	GM12892	blood:	n/a	n/a
19	TAF7	chr2:99224655-99225285	H1-hESC	embryonic stem cell:	n/a	n/a
20	TBP	chr2:99224313-99225378	K562	blood:	n/a	n/a
21	POLR2A	chr2:99224539-99226007	U87	brain:	n/a	n/a
22	MBD4	chr2:99224717-99225548	HepG2	liver:	n/a	n/a
23	TAF1	chr2:99224621-99225353	GM12878	blood:	n/a	n/a
24	MAX	chr2:99224543-99225291	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr2:99224747-99225421	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr2:99224422-99226041	HepG2	liver:	n/a	n/a
27	ATF3	chr2:99224711-99225265	A549	lung:	n/a	n/a
28	EBF1	chr2:99224745-99225196	GM12878	blood:	n/a	chr2:99224950-99224961
29	YY1	chr2:99224746-99225493	ECC-1	luminal epithelium:	n/a	chr2:99225116-99225127 chr2:99224990-99224999
30	TBL1XR1	chr2:99224724-99225237	GM12878	blood:	n/a	n/a
31	ZBTB33	chr2:99224738-99225276	HCT-116	colon:	n/a	n/a
32	POLR2A	chr2:99224597-99225532	GM12892	blood:	n/a	n/a
33	RAD21	chr2:99224883-99225187	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAZ	chr2:99224755-99225318	GM12878	blood:	n/a	n/a
35	RUNX3	chr2:99224489-99225521	GM12878	blood:	n/a	n/a
36	CEBPD	chr2:99224575-99225333	K562	blood:	n/a	n/a
37	USF2	chr2:99224828-99225335	GM12878	blood:	n/a	chr2:99224984-99225000
38	BHLHE40	chr2:99224668-99225461	GM12878	blood:	n/a	chr2:99224984-99225000 chr2:99224681-99224697
39	FOXM1	chr2:99224672-99225308	GM12878	blood:	n/a	n/a
40	TAF1	chr2:99224635-99225425	Hela-S3	cervix:	n/a	n/a
41	MAX	chr2:99224625-99225245	A549	lung:	n/a	n/a
42	CTCF	chr2:99224785-99225197	GM12878	blood:	n/a	chr2:99225020-99225036 chr2:99225130-99225143 chr2:99225106-99225119
43	GABPA	chr2:99224230-99225604	A549	lung:	n/a	n/a
44	PBX3	chr2:99224788-99225190	A549	lung:	n/a	n/a
45	TCF3	chr2:99224657-99225355	GM12878	blood:	n/a	n/a
46	HEY1	chr2:99224446-99225364	K562	blood:	n/a	chr2:99225031-99225046
47	USF1	chr2:99224723-99225209	A549	lung:	n/a	chr2:99224984-99225000
48	TRIM28	chr2:99224578-99225399	K562	blood:	n/a	n/a
49	CHD2	chr2:99224553-99225299	HepG2	liver:	n/a	n/a
50	MXI1	chr2:99224677-99225275	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99223862..99225617-chr2:99483733..99486358,2	MCF-7	breast:
2	chr16:30886003..30888293-chr2:99224487..99226412,2	MCF-7	breast:
3	chr1:85039718..85040687-chr2:99224792..99225429,2	Hela-S3	cervix:
4	chr2:99223609..99227969-chr2:99231004..99234291,6	MCF-7	breast:
5	chr2:99059903..99063646-chr2:99224086..99226361,3	MCF-7	breast:
6	chr2:99223954..99226823-chr2:99951325..99954405,3	K562	blood:
7	chr2:99059716..99061433-chr2:99224570..99226733,2	MCF-7	breast:
8	chr2:99221188..99224105-chr2:99225000..99227009,2	K562	blood:
9	chr2:99224071..99226436-chr8:101963267..101965171,2	MCF-7	breast:
10	chr12:42631389..42632009-chr2:99224712..99225682,3	Hela-S3	cervix:
11	chr2:99220491..99222361-chr2:99223823..99225591,2	MCF-7	breast:

Variant related genes	Relation type
UNC50	TF binding region
COA5	TF binding region
ENSG00000196872	Chromatin interaction
ENSG00000158417	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000015153	Chromatin interaction
ENSG00000040933	Chromatin interaction
ENSG00000115514	Chromatin interaction
ENSG00000115446	Chromatin interaction
ENSG00000183513	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 163 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs10199199	0.82[EUR][1000 genomes]
rs10496327	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10514774	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11537554	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11884553	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11888595	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11892744	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11896729	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11901568	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11902825	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12052639	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12617721	0.88[EUR][1000 genomes]
rs12618524	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12619665	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12622341	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13402379	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1516085	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1587835	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17031139	0.83[EUR][1000 genomes]
rs17031146	0.83[EUR][1000 genomes]
rs17031905	0.87[EUR][1000 genomes]
rs17032120	0.88[EUR][1000 genomes]
rs17032866	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17032870	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17033136	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17033813	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17034171	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17034241	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444095	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17446058	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17502889	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17504774	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17505088	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17505326	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17506535	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513468	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1847550	0.84[EUR][1000 genomes]
rs2230388	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276603	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278206	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278207	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278208	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2278211	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278212	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2278213	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2278214	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2309390	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3203856	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34906456	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3729568	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754871	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754872	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754875	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754877	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754878	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3754879	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3754880	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3754881	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754883	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754884	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754885	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754886	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754888	0.88[EUR][1000 genomes]
rs3754889	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754890	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754891	0.88[EUR][1000 genomes]
rs3754893	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3769698	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769701	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769708	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769709	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769712	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769713	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3769715	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769716	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769717	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769719	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769723	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769724	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769725	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769726	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769727	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769728	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769729	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769730	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769733	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769734	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769735	0.91[EUR][1000 genomes]
rs3769736	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769737	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769738	0.88[EUR][1000 genomes]
rs3769740	0.87[EUR][1000 genomes]
rs3769741	0.87[EUR][1000 genomes]
rs3769743	0.87[EUR][1000 genomes]
rs3820941	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3820943	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3820945	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4596026	0.88[EUR][1000 genomes]
rs4599165	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4850874	0.87[EUR][1000 genomes]
rs4850875	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4850876	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4850877	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4850878	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4850879	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4851131	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4851136	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4851140	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4851141	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4851142	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4851144	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851145	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4851146	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55900716	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55934321	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56091613	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56118505	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56141907	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56197140	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56232707	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56240302	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56333112	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56357378	0.83[EUR][1000 genomes]
rs58778964	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61180742	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6728891	0.83[EUR][1000 genomes]
rs6736755	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6753380	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6753515	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72819965	0.83[EUR][1000 genomes]
rs72819970	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819971	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819972	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819981	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819996	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72820002	0.87[EUR][1000 genomes]
rs72821904	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72821907	0.89[EUR][1000 genomes]
rs72821908	0.88[EUR][1000 genomes]
rs72821920	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72821924	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821930	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821939	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72821943	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821946	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821951	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72821955	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72821956	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72821965	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823788	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823792	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823794	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823796	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72823801	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7562232	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7585747	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7585939	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7588254	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7593615	0.83[EUR][1000 genomes]
rs7595120	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs961242	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1139829	UNC50	cis	lymphoblastoid	seeQTL
rs1139829	ENSG00000115446	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99223200-99226600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:99223200-99226800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:99223400-99226400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:99223600-99225800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr2:99223600-99226000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr2:99223600-99226400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr2:99223600-99226400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:99223800-99225800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr2:99223800-99225800	Active TSS	Fetal Muscle Trunk	muscle
10	chr2:99223800-99226200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:99223800-99226400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:99224000-99225800	Active TSS	Small Intestine	intestine
13	chr2:99224000-99226000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:99224000-99226000	Active TSS	Ovary	ovary
15	chr2:99224000-99226200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:99224000-99226200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:99224000-99226200	Active TSS	Esophagus	oesophagus
18	chr2:99224000-99226200	Active TSS	A549	lung
19	chr2:99224000-99226400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:99224000-99226600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr2:99224000-99226600	Active TSS	Aorta	Aorta
22	chr2:99224000-99226800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr2:99224200-99225200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr2:99224200-99225600	Active TSS	Stomach Smooth Muscle	stomach
25	chr2:99224200-99225800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:99224200-99225800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:99224200-99225800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:99224200-99225800	Active TSS	Colonic Mucosa	Colon
29	chr2:99224200-99225800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr2:99224200-99225800	Active TSS	Hela-S3	cervix
31	chr2:99224200-99225800	Active TSS	HMEC	breast
32	chr2:99224200-99226000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:99224200-99226000	Active TSS	Fetal Intestine Large	intestine
34	chr2:99224200-99226000	Active TSS	Fetal Intestine Small	intestine
35	chr2:99224200-99226000	Active TSS	Fetal Stomach	stomach
36	chr2:99224200-99226000	Active TSS	Left Ventricle	heart
37	chr2:99224200-99226000	Active TSS	Lung	lung
38	chr2:99224200-99226000	Active TSS	Psoas Muscle	Psoas
39	chr2:99224200-99226000	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr2:99224200-99226000	Active TSS	Stomach Mucosa	stomach
41	chr2:99224200-99226000	Active TSS	GM12878-XiMat	blood
42	chr2:99224200-99226000	Bivalent/Poised TSS	HepG2	liver
43	chr2:99224200-99226000	Active TSS	Osteobl	bone
44	chr2:99224200-99226200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:99224200-99226200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr2:99224200-99226200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:99224200-99226200	Active TSS	Gastric	stomach
48	chr2:99224200-99226200	Active TSS	HSMM	muscle
49	chr2:99224200-99226200	Active TSS	NHDF-Ad	bronchial
50	chr2:99224200-99226200	Active TSS	NHLF	lung

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