Variant report

Variant	rs17512652
Chromosome Location	chr12:118799083-118799084
allele	C/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	FOSL1	chr12:118798416-118799219	HCT-116	colon:	n/a	chr12:118798777-118798788 chr12:118798780-118798790 chr12:118798791-118798801 chr12:118798791-118798801 chr12:118798781-118798790 chr12:118798781-118798789 chr12:118798791-118798801 chr12:118798782-118798789 chr12:118798780-118798789 chr12:118798774-118798786 chr12:118798779-118798791
2	GATA3	chr12:118798441-118799228	SK-N-SH	brain:	n/a	chr12:118798779-118798788 chr12:118798858-118798867 chr12:118798855-118798871
3	JUN	chr12:118798477-118799359	K562	blood:	n/a	chr12:118798777-118798788 chr12:118798780-118798790 chr12:118798791-118798801 chr12:118798791-118798801 chr12:118798781-118798790 chr12:118799240-118799249 chr12:118798781-118798789 chr12:118798791-118798801 chr12:118798782-118798789 chr12:118798780-118798789 chr12:118798774-118798786 chr12:118798779-118798791
4	ARID3A	chr12:118798421-118799202	K562	blood:	n/a	n/a
5	FOS	chr12:118798500-118799104	MCF10A-Er-Src	breast:	n/a	chr12:118798777-118798788 chr12:118798780-118798790 chr12:118798791-118798801 chr12:118798779-118798790 chr12:118798791-118798801 chr12:118798781-118798790 chr12:118798781-118798789 chr12:118798791-118798801 chr12:118798782-118798789 chr12:118798780-118798789 chr12:118798774-118798786 chr12:118798779-118798791
6	JUND	chr12:118798444-118799110	HCT-116	colon:	n/a	chr12:118798777-118798788 chr12:118798779-118798790 chr12:118798780-118798790 chr12:118798791-118798801 chr12:118798791-118798801 chr12:118798781-118798790 chr12:118798781-118798789 chr12:118798791-118798801 chr12:118798782-118798789 chr12:118798780-118798789 chr12:118798774-118798786 chr12:118798779-118798791
7	PBX3	chr12:118798509-118799129	SK-N-SH	brain:	n/a	n/a
8	JUND	chr12:118798423-118799311	SK-N-SH	brain:	n/a	chr12:118798777-118798788 chr12:118798779-118798790 chr12:118798780-118798790 chr12:118798791-118798801 chr12:118798791-118798801 chr12:118798781-118798790 chr12:118799240-118799249 chr12:118798781-118798789 chr12:118798791-118798801 chr12:118798782-118798789 chr12:118798780-118798789 chr12:118798774-118798786 chr12:118798779-118798791
9	JUND	chr12:118798401-118799262	SK-N-SH	brain:	n/a	chr12:118798777-118798788 chr12:118798779-118798790 chr12:118798780-118798790 chr12:118798791-118798801 chr12:118798791-118798801 chr12:118798781-118798790 chr12:118799240-118799249 chr12:118798781-118798789 chr12:118798791-118798801 chr12:118798782-118798789 chr12:118798780-118798789 chr12:118798774-118798786 chr12:118798779-118798791
10	JUN	chr12:118798598-118799141	Hela-S3	cervix:	n/a	chr12:118798777-118798788 chr12:118798780-118798790 chr12:118798791-118798801 chr12:118798791-118798801 chr12:118798781-118798790 chr12:118798781-118798789 chr12:118798791-118798801 chr12:118798782-118798789 chr12:118798780-118798789 chr12:118798774-118798786 chr12:118798779-118798791
11	TCF12	chr12:118798338-118799371	SK-N-SH	brain:	n/a	n/a
12	NFIC	chr12:118798430-118799185	SK-N-SH	brain:	n/a	n/a
13	TBL1XR1	chr12:118798697-118799130	K562	blood:	n/a	n/a
14	PBX3	chr12:118798535-118799198	SK-N-SH	brain:	n/a	n/a
15	EP300	chr12:118798459-118799200	SK-N-SH	brain:	n/a	chr12:118798781-118798790 chr12:118798780-118798789
16	JUND	chr12:118798395-118799179	SK-N-SH	brain:	n/a	chr12:118798777-118798788 chr12:118798779-118798790 chr12:118798780-118798790 chr12:118798791-118798801 chr12:118798791-118798801 chr12:118798781-118798790 chr12:118798781-118798789 chr12:118798791-118798801 chr12:118798782-118798789 chr12:118798780-118798789 chr12:118798774-118798786 chr12:118798779-118798791
17	MAFK	chr12:118798643-118799186	K562	blood:	n/a	chr12:118798782-118798791
18	MAFF	chr12:118798645-118799143	K562	blood:	n/a	n/a
19	TCF12	chr12:118798452-118799248	SK-N-SH	brain:	n/a	n/a
20	JUND	chr12:118798469-118799089	K562	blood:	n/a	chr12:118798777-118798788 chr12:118798779-118798790 chr12:118798780-118798790 chr12:118798791-118798801 chr12:118798791-118798801 chr12:118798781-118798790 chr12:118798781-118798789 chr12:118798791-118798801 chr12:118798782-118798789 chr12:118798780-118798789 chr12:118798774-118798786 chr12:118798779-118798791
21	MXI1	chr12:118798686-118799126	Hela-S3	cervix:	n/a	n/a
22	FOSL2	chr12:118798426-118799156	SK-N-SH	brain:	n/a	chr12:118798777-118798788 chr12:118798780-118798790 chr12:118798791-118798801 chr12:118798791-118798801 chr12:118798781-118798790 chr12:118798781-118798789 chr12:118798791-118798801 chr12:118798782-118798789 chr12:118798780-118798789 chr12:118798774-118798786 chr12:118798779-118798791
23	FOSL2	chr12:118798460-118799261	A549	lung:	n/a	chr12:118798777-118798788 chr12:118798780-118798790 chr12:118798791-118798801 chr12:118798791-118798801 chr12:118798781-118798790 chr12:118799240-118799249 chr12:118798781-118798789 chr12:118798791-118798801 chr12:118798782-118798789 chr12:118798780-118798789 chr12:118798774-118798786 chr12:118798779-118798791
24	GATA3	chr12:118798417-118799265	SK-N-SH	brain:	n/a	chr12:118798779-118798788 chr12:118798858-118798867 chr12:118798855-118798871
25	FOS	chr12:118798547-118799145	MCF10A-Er-Src	breast:	n/a	chr12:118798777-118798788 chr12:118798780-118798790 chr12:118798791-118798801 chr12:118798779-118798790 chr12:118798791-118798801 chr12:118798781-118798790 chr12:118798781-118798789 chr12:118798791-118798801 chr12:118798782-118798789 chr12:118798780-118798789 chr12:118798774-118798786 chr12:118798779-118798791

No.	Distal block	Cell Line	Cell type
1	chr12:118789693..118801109-chr12:118805205..118813455,21	K562	blood:
2	chr12:118794409..118797203-chr12:118798359..118800933,4	K562	blood:
3	chr12:118792933..118800473-chr12:118805927..118813309,24	K562	blood:
4	chr12:118799005..118800593-chr12:118802785..118804856,2	K562	blood:

Variant related genes	Relation type
TAOK3	TF binding region
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 188 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:184)

rs_ID	r²[population]
rs10082823	0.81[EUR][1000 genomes]
rs10507286	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs1060964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850967	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11068891	0.92[CEU][hapmap]
rs11068908	0.92[CEU][hapmap]
rs11068917	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs11068919	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11068926	0.88[EUR][1000 genomes]
rs12229607	0.93[CEU][hapmap]
rs12820035	1.00[CHB][hapmap]
rs16948193	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs16948197	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs16948204	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs16948230	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs16948234	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs16948250	1.00[CEU][hapmap]
rs17433217	0.81[EUR][1000 genomes]
rs17440336	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs17440364	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs17440433	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17440669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17440774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17440823	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17440893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441033	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441047	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441075	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441172	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441214	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441251	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17512142	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs17512177	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17512198	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs17512219	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17512407	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs17512483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs17512525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17512574	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17512609	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17512763	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513006	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17513013	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17586342	0.85[CEU][hapmap]
rs17619932	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs1909617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036314	0.87[EUR][1000 genomes]
rs2036489	0.83[EUR][1000 genomes]
rs2055534	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062519	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2280711	0.85[CEU][hapmap]
rs2393403	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393415	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2393416	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2893771	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3852531	0.91[AFR][1000 genomes]
rs3852532	0.81[EUR][1000 genomes]
rs4406856	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4442583	0.88[EUR][1000 genomes]
rs4457791	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4766899	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4766900	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767669	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507517	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55659011	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55833534	0.82[EUR][1000 genomes]
rs55842338	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55929628	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56033674	0.81[EUR][1000 genomes]
rs56133316	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56157623	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56190986	1.00[ASN][1000 genomes]
rs56275187	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284927	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56324376	0.83[EUR][1000 genomes]
rs56347775	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56708462	0.82[EUR][1000 genomes]
rs58113338	0.81[EUR][1000 genomes]
rs59594854	0.83[EUR][1000 genomes]
rs61943362	0.91[AFR][1000 genomes]
rs61943364	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61943367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943369	0.87[EUR][1000 genomes]
rs61943370	0.88[EUR][1000 genomes]
rs61943371	0.88[EUR][1000 genomes]
rs61943385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943388	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943389	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943391	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943392	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943393	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943397	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943399	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943400	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943401	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943402	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943403	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943404	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943405	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943406	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943443	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943444	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943447	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943451	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943452	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943454	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943455	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943456	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943457	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61945182	0.81[EUR][1000 genomes]
rs61945183	0.81[EUR][1000 genomes]
rs61945184	0.81[EUR][1000 genomes]
rs61945187	0.81[EUR][1000 genomes]
rs61945188	0.81[EUR][1000 genomes]
rs61945189	0.91[AFR][1000 genomes]
rs61945192	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61945206	0.81[EUR][1000 genomes]
rs61945212	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61945216	0.81[EUR][1000 genomes]
rs61945217	0.91[AFR][1000 genomes]
rs61945220	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61945221	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61945223	0.91[AFR][1000 genomes]
rs61945224	0.91[AFR][1000 genomes]
rs61945225	0.91[AFR][1000 genomes]
rs61945226	0.81[EUR][1000 genomes]
rs61945228	0.82[EUR][1000 genomes]
rs61946067	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs61946068	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6490173	0.92[CEU][hapmap]
rs6490177	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs673078	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7132753	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7136216	0.85[CEU][hapmap]
rs7136676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137184	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294498	1.00[CEU][hapmap]
rs7295288	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299040	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302387	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7303417	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7304342	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305647	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7309484	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7312555	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7314987	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7315458	0.80[EUR][1000 genomes]
rs73205512	0.81[EUR][1000 genomes]
rs73205526	0.81[EUR][1000 genomes]
rs73205531	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73205576	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205579	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205594	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207504	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207564	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207566	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7958551	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7958652	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7960802	0.91[AFR][1000 genomes]
rs7961312	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7962185	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs7963353	0.81[EUR][1000 genomes]
rs7965350	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs7967900	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968011	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970481	0.81[EUR][1000 genomes]
rs882927	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs950288	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669004	0.81[EUR][1000 genomes]
rs9943819	0.92[CEU][hapmap]

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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription 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	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17512652	SUDS3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118793000-118799200	Enhancers	Osteobl	bone
2	chr12:118793400-118799200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:118793800-118799200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:118794800-118807800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:118794800-118808400	Weak transcription	Small Intestine	intestine
6	chr12:118794800-118809000	Weak transcription	Lung	lung
7	chr12:118794800-118809000	Weak transcription	Pancreas	Pancrea
8	chr12:118794800-118809200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:118794800-118809200	Weak transcription	Esophagus	oesophagus
10	chr12:118795600-118799200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:118795600-118799200	Enhancers	NHDF-Ad	bronchial
12	chr12:118795600-118801400	Weak transcription	Left Ventricle	heart
13	chr12:118795600-118808600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:118796000-118801400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:118796200-118808200	Weak transcription	Brain Substantia Nigra	brain
16	chr12:118796400-118799200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:118797000-118807200	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:118797200-118808000	Weak transcription	Liver	Liver
19	chr12:118797200-118808000	Weak transcription	Fetal Lung	lung
20	chr12:118797200-118808400	Weak transcription	Fetal Stomach	stomach
21	chr12:118797400-118803400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:118797400-118808200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:118797400-118808400	Weak transcription	Fetal Intestine Large	intestine
24	chr12:118797600-118801200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:118797600-118807800	Weak transcription	Adipose Nuclei	Adipose
26	chr12:118797600-118808200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:118797600-118808400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:118797600-118808400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:118797600-118808400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:118797600-118808400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:118797600-118808600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:118797600-118808600	Weak transcription	Fetal Intestine Small	intestine
33	chr12:118797800-118799200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:118797800-118800000	Weak transcription	Primary B cells from cord blood	blood
35	chr12:118797800-118800200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:118797800-118800200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:118797800-118801400	Weak transcription	Gastric	stomach
38	chr12:118797800-118808000	Weak transcription	GM12878-XiMat	blood
39	chr12:118797800-118808400	Weak transcription	Primary T cells from cord blood	blood
40	chr12:118798000-118808200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:118798000-118808400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:118798200-118799200	Enhancers	NHLF	lung
43	chr12:118798200-118800200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:118798200-118807600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:118798200-118807800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr12:118798400-118799200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:118798400-118799200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:118798400-118799200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:118798400-118799200	Flanking Active TSS	HUVEC	blood vessel
50	chr12:118798400-118799200	Flanking Active TSS	K562	blood

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