Variant report

Variant	rs6546797
Chromosome Location	chr2:73248130-73248131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:73247731-73248495	A549	lung:	n/a	chr2:73248104-73248116 chr2:73248105-73248113
2	TEAD4	chr2:73248035-73248287	HepG2	liver:	n/a	n/a
3	RAD21	chr2:73248071-73248300	HepG2	liver:	n/a	n/a
4	USF1	chr2:73247991-73248303	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:73247857-73249154	HepG2	liver:	n/a	n/a
6	MAX	chr2:73247990-73248348	HepG2	liver:	n/a	n/a
7	JUN	chr2:73248080-73248324	HepG2	liver:	n/a	n/a
8	SMC3	chr2:73247957-73248789	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:73247900-73248447	U87	brain:	n/a	n/a
10	HDAC2	chr2:73247822-73248435	MCF-7	breast:	n/a	chr2:73248105-73248114
11	MAX	chr2:73247994-73248416	A549	lung:	n/a	n/a
12	NR2F2	chr2:73247792-73248472	MCF-7	breast:	n/a	n/a
13	RCOR1	chr2:73247989-73248395	HepG2	liver:	n/a	n/a
14	FOXA2	chr2:73248006-73248374	HepG2	liver:	n/a	n/a
15	MAX	chr2:73247883-73248430	A549	lung:	n/a	n/a
16	POLR2A	chr2:73248023-73248130	Gliobla	brain:	n/a	n/a
17	REST	chr2:73247944-73248147	HepG2	liver:	n/a	n/a
18	MAFF	chr2:73248006-73248295	HepG2	liver:	n/a	n/a
19	TEAD4	chr2:73247930-73248461	HepG2	liver:	n/a	n/a
20	TBP	chr2:73248026-73248316	HepG2	liver:	n/a	n/a
21	MYBL2	chr2:73247862-73248444	HepG2	liver:	n/a	n/a
22	TEAD4	chr2:73247868-73248399	MCF-7	breast:	n/a	n/a
23	GATA3	chr2:73247816-73248412	SK-N-SH	brain:	n/a	chr2:73248104-73248116 chr2:73248105-73248113
24	JUND	chr2:73247939-73248402	HepG2	liver:	n/a	n/a
25	REST	chr2:73247830-73248394	HepG2	liver:	n/a	chr2:73248295-73248308 chr2:73248295-73248308
26	EP300	chr2:73248026-73248351	HepG2	liver:	n/a	n/a
27	USF1	chr2:73247999-73248356	A549	lung:	n/a	n/a
28	CEBPB	chr2:73248085-73248853	HepG2	liver:	n/a	n/a
29	GATA3	chr2:73247807-73248435	SK-N-SH	brain:	n/a	chr2:73248104-73248116 chr2:73248105-73248113
30	REST	chr2:73247842-73248345	MCF-7	breast:	n/a	chr2:73248295-73248308 chr2:73248295-73248308
31	EP300	chr2:73248023-73248383	MCF-7	breast:	n/a	n/a
32	MAFK	chr2:73248050-73248294	HepG2	liver:	n/a	n/a
33	HNF4A	chr2:73247962-73248376	HepG2	liver:	n/a	n/a
34	MYC	chr2:73248086-73248193	MCF-7	breast:	n/a	n/a
35	MBD4	chr2:73247935-73248434	HepG2	liver:	n/a	n/a
36	TCF7L2	chr2:73248029-73248306	MCF-7	breast:	n/a	n/a
37	BHLHE40	chr2:73247763-73248888	HepG2	liver:	n/a	n/a
38	HDAC2	chr2:73247910-73248408	HepG2	liver:	n/a	chr2:73248105-73248114
39	GATA3	chr2:73247979-73248301	MCF-7	breast:	n/a	chr2:73248104-73248116 chr2:73248105-73248113
40	HDAC2	chr2:73247930-73248450	MCF-7	breast:	n/a	chr2:73248105-73248114
41	FOXA1	chr2:73247907-73248430	HepG2	liver:	n/a	n/a
42	SIN3AK20	chr2:73247662-73248608	MCF-7	breast:	n/a	n/a
43	FOSL2	chr2:73247900-73248493	MCF-7	breast:	n/a	n/a
44	REST	chr2:73247858-73248345	MCF-7	breast:	n/a	chr2:73248295-73248308 chr2:73248295-73248308
45	FOSL2	chr2:73247904-73248919	HepG2	liver:	n/a	chr2:73248703-73248712
46	SP1	chr2:73247886-73248999	HepG2	liver:	n/a	n/a
47	NR2F2	chr2:73247804-73248987	MCF-7	breast:	n/a	n/a
48	FOXA2	chr2:73247861-73249086	A549	lung:	n/a	chr2:73248730-73248742
49	GATA3	chr2:73247879-73248387	A549	lung:	n/a	chr2:73248104-73248116 chr2:73248105-73248113
50	MBD4	chr2:73247683-73248421	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:73248097-73248147	MCF10A-Er-Src	breast:	n/a
2	chr2:73248097-73248147	HepG2	liver:	n/a
3	chr2:73248097-73248147	MCF-7	breast:	n/a
4	chr2:73248097-73248147	GM12891	blood:	n/a
5	chr2:73248097-73248147	RPTEC	kidney:	n/a
6	chr2:73248097-73248147	SAEC	small airway:	n/a
7	chr2:73248097-73248147	GM19239	blood:	n/a
8	chr2:73248097-73248147	NHBE	bronchial:	n/a
9	chr2:73248097-73248147	ProgFib	skin:	n/a
10	chr2:73248097-73248147	Hela-S3	cervix:	n/a
11	chr2:73248097-73248147	HRCEpiC	kidney:	n/a
12	chr2:73248097-73248147	AG04449	skin:	fetal
13	chr2:73248097-73248147	GM12878	blood:	n/a
14	chr2:73248097-73248147	HNPCEpiC	eye:	n/a
15	chr2:73248097-73248147	NH-A	brain:	n/a
16	chr2:73248097-73248147	AG04450	lung:	fetal
17	chr2:73248097-73248147	H1-hESC	embryonic stem cell:	embryo
18	chr2:73248097-73248147	HUVEC	blood vessel:	n/a
19	chr2:73248097-73248147	SK-N-MC	brain:	n/a
20	chr2:73248097-73248147	BE2_C	brain:	n/a
21	chr2:73248097-73248147	Caco-2	colon:	n/a
22	chr2:73248097-73248147	HCT-116	colon:	n/a
23	chr2:73248097-73248147	T-47D	breast:	n/a
24	chr2:73248097-73248147	GM06990	blood:	n/a
25	chr2:73248097-73248147	HCPEpiC	choroid plexus:	n/a
26	chr2:73248097-73248147	GM12892	blood:	n/a
27	chr2:73248097-73248147	IMR90	lung:	fetal
28	chr2:73248097-73248147	AG09319	gingival:	n/a
29	chr2:73248097-73248147	SK-N-SH_RA	brain:	n/a
30	chr2:73248097-73248147	HPAEpiC	pulmonary alveolar:	n/a
31	chr2:73248097-73248147	HRE	kidney:	n/a
32	chr2:73248097-73248147	ECC-1	luminal epithelium:	n/a
33	chr2:73248097-73248147	K562	blood:	n/a
34	chr2:73248097-73248147	HRPEpiC	eye:	n/a
35	chr2:73248097-73248147	HAEpiC	amniotic membrane:	n/a
36	chr2:73248097-73248147	NHDF-neo	bronchial:	n/a
37	chr2:73248097-73248147	Jurkat	blood:	n/a
38	chr2:73248097-73248147	PrEC	prostate:	n/a
39	chr2:73248097-73248147	BJ	skin:	n/a
40	chr2:73248097-73248147	PFSK-1	brain:	n/a
41	chr2:73248097-73248147	CMK	blood:	n/a
42	chr2:73248097-73248147	AoSMC	blood vessel:	n/a
43	chr2:73248097-73248147	Hepatocyte	liver:	n/a
44	chr2:73248097-73248147	PANC-1	pancreas:	n/a
45	chr2:73248097-73248147	HIPEpiC	eye:	n/a
46	chr2:73248097-73248147	HL-60	blood:	n/a
47	chr2:73248097-73248147	HEK293	kidney:	embryo
48	chr2:73248097-73248147	U87	brain:	n/a
49	chr2:73248097-73248147	SK-N-SH	brain:	n/a
50	chr2:73248097-73248147	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73248061..73250932-chr2:73261884..73263606,2	MCF-7	breast:
2	chr2:73247880..73249549-chr2:73297972..73299902,3	MCF-7	breast:

No data

Variant related genes	Relation type
SFXN5	TF binding region
SFXN5	CpG island
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10166058	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10166220	0.94[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10167566	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs10174548	0.81[JPT][hapmap]
rs10176939	0.94[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10177159	1.00[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10178854	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10178944	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10180720	0.88[ASW][hapmap];0.87[CEU][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10180995	0.88[ASW][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap]
rs10189744	0.94[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10190861	0.80[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs10191665	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192077	0.88[ASW][hapmap];0.94[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.95[LWK][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10197305	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10209859	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1036512	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1046186	0.81[AMR][1000 genomes]
rs12104691	0.81[AMR][1000 genomes]
rs12233055	0.94[CEU][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13385994	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13388404	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13390072	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13391532	0.81[AMR][1000 genomes]
rs13393567	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13400920	0.83[ASW][hapmap];0.81[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.86[TSI][hapmap];0.92[YRI][hapmap]
rs13400948	0.85[GIH][hapmap];0.90[MEX][hapmap];0.82[YRI][hapmap]
rs13403757	0.81[JPT][hapmap]
rs13403781	0.81[JPT][hapmap]
rs13416407	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs13424057	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13427947	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1370383	0.87[CEU][hapmap];0.97[GIH][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1430349	0.82[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap]
rs17008571	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17008611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17008631	0.87[CEU][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1864488	0.81[JPT][hapmap];0.86[MEX][hapmap]
rs1992133	0.88[ASW][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.90[MKK][hapmap];0.86[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2421098	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs3813222	0.86[JPT][hapmap];0.89[YRI][hapmap]
rs3901273	0.81[JPT][hapmap]
rs4144837	0.87[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4514897	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4527230	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55974516	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57536428	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57937746	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58993488	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61161134	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61650913	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62147721	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62147724	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62147732	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546794	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6546796	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546800	0.81[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs6709938	1.00[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6710362	0.97[ASN][1000 genomes]
rs6710739	0.83[ASW][hapmap];0.87[CEU][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6710755	0.87[LWK][hapmap];0.86[MEX][hapmap];0.88[YRI][hapmap]
rs6711891	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap]
rs6712925	0.81[AMR][1000 genomes]
rs6713655	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6717553	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719333	0.94[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6726940	1.00[CEU][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes]
rs6727269	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6727919	0.81[CEU][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs6729266	0.87[GIH][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap]
rs6732369	0.87[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6736153	0.87[GIH][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap]
rs6749237	0.86[JPT][hapmap];0.89[YRI][hapmap]
rs6750069	0.94[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6754779	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6754858	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6757131	0.94[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6759243	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6759733	0.94[CEU][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs727470	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs732178	0.94[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs732179	0.94[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs732180	0.94[CEU][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7557173	0.82[GIH][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap]
rs7559340	0.82[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs7566904	1.00[ASW][hapmap];0.87[CEU][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7570876	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7578757	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7579770	1.00[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7580216	0.94[CEU][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7597032	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7602651	0.83[ASW][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap]
rs891432	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs891433	0.81[CEU][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs893258	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs893259	1.00[CEU][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9309467	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6546797	FIGLA	cis	parietal	SCAN
rs6546797	SFXN5	cis	cerebellum	SCAN
rs6546797	RAB11FIP5	cis	multi-tissue	Pritchard

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73194200-73248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:73211000-73258400	Weak transcription	Colonic Mucosa	Colon
4	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
5	chr2:73215800-73263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:73216200-73248800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:73217400-73249000	Weak transcription	Ovary	ovary
8	chr2:73220600-73249000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:73220600-73263200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:73221200-73263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:73223200-73274600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:73224600-73261200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:73226200-73248800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:73227600-73249000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:73227800-73248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:73228000-73248800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:73228600-73248200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:73228800-73248600	Weak transcription	Placenta	Placenta
19	chr2:73233200-73270800	Weak transcription	Brain Germinal Matrix	brain
20	chr2:73236000-73248600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:73236000-73264200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:73236400-73248800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:73236600-73248800	Weak transcription	Fetal Brain Female	brain
24	chr2:73236600-73249000	Weak transcription	Left Ventricle	heart
25	chr2:73236800-73248800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:73236800-73258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:73237000-73248600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:73237000-73248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:73237000-73248800	Weak transcription	Aorta	Aorta
30	chr2:73237000-73248800	Weak transcription	Esophagus	oesophagus
31	chr2:73237000-73248800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:73237000-73248800	Weak transcription	Lung	lung
33	chr2:73237000-73249000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:73237000-73249000	Weak transcription	Adipose Nuclei	Adipose
35	chr2:73237000-73249000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:73239400-73248600	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:73239400-73249000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:73241600-73248200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:73245000-73248600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:73245400-73248600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr2:73245800-73248800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:73246000-73250400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:73246200-73249400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:73246400-73253200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:73246400-73263400	Weak transcription	K562	blood
46	chr2:73246400-73263600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:73246400-73277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:73246600-73283800	Weak transcription	Hela-S3	cervix
49	chr2:73247000-73248800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:73247000-73248800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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