Variant report

Variant	rs1048442
Chromosome Location	chr10:99160152-99160153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr10:99159827-99161304	K562	blood:	n/a	n/a
2	ZBTB7A	chr10:99159940-99160329	K562	blood:	n/a	n/a
3	JUND	chr10:99159754-99160274	K562	blood:	n/a	chr10:99160008-99160015
4	MAX	chr10:99159860-99160421	K562	blood:	n/a	n/a
5	POLR2A	chr10:99159813-99161341	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr10:99159626-99160397	K562	blood:	n/a	chr10:99159837-99159849
7	ZMIZ1	chr10:99159861-99160280	K562	blood:	n/a	n/a
8	FOSL2	chr10:99159716-99160212	SK-N-SH	brain:	n/a	chr10:99160008-99160015
9	MYC	chr10:99159927-99160306	K562	blood:	n/a	n/a
10	POLR2A	chr10:99159879-99160241	K562	blood:	n/a	n/a
11	POLR2A	chr10:99159865-99161430	PBDE	blood:	n/a	n/a
12	MXI1	chr10:99159794-99161342	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr10:99159892-99161377	K562	blood:	n/a	n/a
14	YY1	chr10:99159942-99160289	HepG2	liver:	n/a	n/a
15	MAFF	chr10:99159710-99160224	HepG2	liver:	n/a	n/a
16	POLR2A	chr10:99159821-99161373	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr10:99159812-99160474	K562	blood:	n/a	n/a
18	ATF3	chr10:99159737-99160314	K562	blood:	n/a	chr10:99159942-99159956
19	POLR2A	chr10:99159630-99161517	Hela-S3	cervix:	n/a	n/a
20	FOSL2	chr10:99159771-99160220	MCF-7	breast:	n/a	chr10:99160008-99160015
21	POLR2A	chr10:99159872-99160328	K562	blood:	n/a	n/a
22	CCNT2	chr10:99159842-99160299	K562	blood:	n/a	n/a
23	MAX	chr10:99159922-99160335	HepG2	liver:	n/a	n/a
24	POLR2A	chr10:99159893-99160300	MCF-7	breast:	n/a	n/a
25	MAX	chr10:99159858-99160377	SK-N-SH	brain:	n/a	n/a
26	CREB1	chr10:99159891-99160201	A549	lung:	n/a	n/a
27	TBP	chr10:99159856-99160405	HepG2	liver:	n/a	n/a
28	MAX	chr10:99159804-99161355	HepG2	liver:	n/a	n/a
29	MYC	chr10:99159830-99160161	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr10:99159872-99161364	HL-60	blood:	n/a	n/a
31	POLR2A	chr10:99159775-99160450	HepG2	liver:	n/a	n/a
32	JUND	chr10:99160119-99160247	H1-hESC	embryonic stem cell:	n/a	n/a
33	RCOR1	chr10:99159847-99160290	K562	blood:	n/a	n/a
34	MXI1	chr10:99159941-99161395	GM12878	blood:	n/a	n/a
35	POLR2A	chr10:99159884-99161326	HUVEC	blood vessel:	n/a	n/a
36	MAX	chr10:99159793-99161351	NB4	blood:	n/a	n/a
37	RFX5	chr10:99159929-99160461	HepG2	liver:	n/a	n/a
38	MAX	chr10:99159808-99161324	ECC-1	luminal epithelium:	n/a	n/a
39	SIN3A	chr10:99159847-99161334	H1-hESC	embryonic stem cell:	n/a	chr10:99160455-99160465
40	FOSL2	chr10:99159715-99160251	A549	lung:	n/a	chr10:99160008-99160015
41	POLR2A	chr10:99159865-99160395	Hela-S3	cervix:	n/a	n/a
42	MXI1	chr10:99159830-99160225	K562	blood:	n/a	n/a
43	MYC	chr10:99159871-99161311	NB4	blood:	n/a	n/a
44	MAX	chr10:99159927-99160352	K562	blood:	n/a	n/a
45	SIN3AK20	chr10:99159727-99160403	SK-N-SH	brain:	n/a	n/a
46	SIN3AK20	chr10:99159801-99161253	K562	blood:	n/a	n/a
47	SIN3AK20	chr10:99159638-99161461	HCT-116	colon:	n/a	n/a
48	SP1	chr10:99159754-99160381	A549	lung:	n/a	n/a
49	USF2	chr10:99159843-99161263	Hela-S3	cervix:	n/a	chr10:99160813-99160829
50	CTCF	chr10:99160100-99160250	NHEK	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:99160130-99160180	NT2-D1	testis:	n/a
2	chr10:99160130-99160180	HAEpiC	amniotic membrane:	n/a
3	chr10:99160130-99160180	Caco-2	colon:	n/a
4	chr10:99160130-99160180	BE2_C	brain:	n/a
5	chr10:99160130-99160180	HRE	kidney:	n/a
6	chr10:99160130-99160180	AG04450	lung:	fetal
7	chr10:99160130-99160180	NB4	blood:	n/a
8	chr10:99160130-99160180	IMR90	lung:	fetal
9	chr10:99160130-99160180	LNCaP	prostate:	n/a
10	chr10:99160130-99160180	HMEC	breast:	n/a
11	chr10:99160130-99160180	ECC-1	luminal epithelium:	n/a
12	chr10:99160130-99160180	A549	lung:	n/a
13	chr10:99160130-99160180	HNPCEpiC	eye:	n/a
14	chr10:99160130-99160180	PFSK-1	brain:	n/a
15	chr10:99160130-99160180	CMK	blood:	n/a
16	chr10:99160130-99160180	MCF-7	breast:	n/a
17	chr10:99160130-99160180	ProgFib	skin:	n/a
18	chr10:99160130-99160180	K562	blood:	n/a
19	chr10:99160130-99160180	HUVEC	blood vessel:	n/a
20	chr10:99160130-99160180	AG10803	skin:	n/a
21	chr10:99160130-99160180	T-47D	breast:	n/a
22	chr10:99160130-99160180	H1-hESC	embryonic stem cell:	embryo
23	chr10:99160130-99160180	NH-A	brain:	n/a
24	chr10:99160130-99160180	AG09309	skin:	n/a
25	chr10:99160130-99160180	GM06990	blood:	n/a
26	chr10:99160130-99160180	HIPEpiC	eye:	n/a
27	chr10:99160130-99160180	NHBE	bronchial:	n/a
28	chr10:99160130-99160180	HPAEpiC	pulmonary alveolar:	n/a
29	chr10:99160130-99160180	AoSMC	blood vessel:	n/a
30	chr10:99160130-99160180	ovcar-3	ovarian:	n/a
31	chr10:99160130-99160180	GM19239	blood:	n/a
32	chr10:99160130-99160180	Jurkat	blood:	n/a
33	chr10:99160130-99160180	RPTEC	kidney:	n/a
34	chr10:99160130-99160180	HCM	heart:	n/a
35	chr10:99160130-99160180	PANC-1	pancreas:	n/a
36	chr10:99160130-99160180	Hepatocyte	liver:	n/a
37	chr10:99160130-99160180	Hela-S3	cervix:	n/a
38	chr10:99160130-99160180	HCPEpiC	choroid plexus:	n/a
39	chr10:99160130-99160180	HL-60	blood:	n/a
40	chr10:99160130-99160180	GM12891	blood:	n/a
41	chr10:99160130-99160180	HepG2	liver:	n/a
42	chr10:99160130-99160180	SAEC	small airway:	n/a
43	chr10:99160130-99160180	GM12878	blood:	n/a
44	chr10:99160130-99160180	SK-N-SH	brain:	n/a
45	chr10:99160130-99160180	BJ	skin:	n/a
46	chr10:99160130-99160180	PrEC	prostate:	n/a
47	chr10:99160130-99160180	HEEpiC	esophagus:	n/a
48	chr10:99160130-99160180	HRPEpiC	eye:	n/a
49	chr10:99160130-99160180	HCF	heart:	n/a
50	chr10:99160130-99160180	SK-N-MC	brain:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99159358..99162440-chr10:99256931..99260180,3	MCF-7	breast:
2	chr10:99158229..99164055-chr10:99184399..99190088,9	MCF-7	breast:
3	chr10:99159690..99162699-chr10:99184060..99186818,5	K562	blood:
4	chr10:99160077..99160674-chr12:49412274..49412839,2	NB4	blood:
5	chr10:99158767..99161294-chr10:99204142..99206207,3	K562	blood:
6	chr10:99145838..99147761-chr10:99158745..99160617,2	K562	blood:
7	chr10:99149313..99151551-chr10:99158288..99160228,2	MCF-7	breast:
8	chr10:99158733..99161055-chr10:99257726..99260280,2	MCF-7	breast:
9	chr10:99158602..99162553-chr10:99184335..99188453,6	MCF-7	breast:
10	chr10:99158578..99161453-chr10:99205742..99208123,2	MCF-7	breast:
11	chr10:99159614..99162570-chr10:99184923..99189339,4	K562	blood:
12	chr10:99077463..99079313-chr10:99158629..99160425,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231970	TF binding region
ENSG00000231970	CpG island
ENSG00000181929	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000165886	Chromatin interaction
ENSG00000171314	Chromatin interaction
ENSG00000165879	Chromatin interaction
ENSG00000155229	Chromatin interaction
ENSG00000171311	Chromatin interaction
ENSG00000224474	Chromatin interaction
ENSG00000052749	Chromatin interaction

Extended variants
information (count: 150 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10444013	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10444014	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10444016	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1048445	0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs10786336	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10786337	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10786338	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10786339	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10786340	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10786341	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10786342	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10786343	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10786344	0.95[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10786345	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10786346	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10786347	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10882888	0.93[CHB][hapmap]
rs10882900	0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs10882903	0.87[CEU][hapmap];0.80[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10882904	0.91[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10882907	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10882908	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882909	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882910	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882911	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882912	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882914	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882915	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882916	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10882917	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10882922	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882924	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10882926	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882929	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10882930	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10882931	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10882934	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11189144	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11189156	0.87[ASN][1000 genomes]
rs11189157	0.88[ASN][1000 genomes]
rs11189159	0.86[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs11189163	0.88[ASN][1000 genomes]
rs11189165	0.91[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11189167	0.88[ASN][1000 genomes]
rs11189168	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11189172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11189173	0.86[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11189174	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11189175	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11189177	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11189178	0.95[CEU][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11189179	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11189180	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11189181	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11189182	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11189183	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11189191	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11189192	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11189193	0.97[ASN][1000 genomes]
rs11189195	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11189196	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11189197	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11189200	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11189203	0.81[AFR][1000 genomes]
rs11189204	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11189206	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11189208	0.80[CEU][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11812223	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11814021	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11817852	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11817875	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12218483	0.93[ASN][1000 genomes]
rs12258560	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12266723	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12359257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12412478	0.93[ASN][1000 genomes]
rs12415424	0.85[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs1537645	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1537646	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1547328	0.87[ASN][1000 genomes]
rs17112674	0.91[CEU][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs17112676	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17504745	0.87[ASN][1000 genomes]
rs1810983	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2275089	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2275090	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2275581	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2275582	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2297667	1.00[CEU][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2297668	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297988	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2861878	0.87[ASN][1000 genomes]
rs3737194	0.91[CEU][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs3814553	1.00[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];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3818787	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3818908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4268448	0.87[ASN][1000 genomes]
rs4635018	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60237341	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61861861	0.93[ASN][1000 genomes]
rs61861870	0.98[ASN][1000 genomes]
rs61861912	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61863813	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61863815	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61863816	0.89[ASN][1000 genomes]
rs61863819	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6584126	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6584127	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6584128	0.95[CEU][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7074511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7074678	0.82[CHB][hapmap]
rs7078004	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7078782	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7084654	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7088410	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7092350	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7092499	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7096801	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72838764	0.93[ASN][1000 genomes]
rs7895695	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7896100	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7900255	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7903562	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7903847	0.91[ASN][1000 genomes]
rs7905026	0.88[ASN][1000 genomes]
rs7909345	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7916665	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7917752	0.87[ASN][1000 genomes]
rs7918742	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7918948	0.93[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs7921585	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7922512	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7923385	0.87[CEU][hapmap];0.80[JPT][hapmap];0.88[EUR][1000 genomes]
rs7924254	0.88[ASN][1000 genomes]
rs869967	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs954149	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9787426	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9787454	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9887991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9887994	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9888026	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888116	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888117	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467437	chr10:99115683-99167436	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv552023	chr10:99115683-99167436	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467438	chr10:99126249-99173870	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv552024	chr10:99126249-99173870	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv467440	chr10:99134784-99204791	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv552025	chr10:99134784-99204791	Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1048442	RP11-452K12.7	cis	Whole Blood	GTEx
rs1048442	RRP12	cis	Heart Left Ventricle	GTEx
rs1048442	RRP12	cis	Muscle Skeletal	GTEx
rs1048442	RRP12	cis	parietal	SCAN
rs1048442	RRP12	cis	cerebellum	SCAN
rs1048442	MMS19	cis	cerebellum	SCAN
rs1048442	RRP12	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99156200-99160400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:99157200-99160400	Weak transcription	Aorta	Aorta
3	chr10:99159400-99161200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:99159400-99161600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr10:99159600-99160200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:99159600-99160400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:99159600-99160400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:99159600-99160600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr10:99159600-99160600	Flanking Active TSS	Dnd41	blood
10	chr10:99159600-99160600	Flanking Active TSS	Hela-S3	cervix
11	chr10:99159600-99160600	Flanking Active TSS	HMEC	breast
12	chr10:99159600-99160600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr10:99159600-99160600	Flanking Active TSS	NH-A	brain
14	chr10:99159600-99160800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:99159600-99161200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr10:99159600-99161200	Active TSS	K562	blood
17	chr10:99159600-99161400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr10:99159600-99161400	Active TSS	Psoas Muscle	Psoas
19	chr10:99159600-99161400	Active TSS	HSMMtube	muscle
20	chr10:99159600-99161800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr10:99159800-99160200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr10:99159800-99160200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:99159800-99160200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr10:99159800-99160200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:99159800-99160200	Enhancers	Primary T cells from cord blood	blood
26	chr10:99159800-99160200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr10:99159800-99160200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:99159800-99160200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:99159800-99160200	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr10:99159800-99160200	Flanking Active TSS	A549	lung
31	chr10:99159800-99160200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr10:99159800-99160400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr10:99159800-99160400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:99159800-99160400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr10:99159800-99160400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr10:99159800-99160400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:99159800-99160400	Flanking Active TSS	Pancreas	Pancrea
38	chr10:99159800-99160400	Flanking Active TSS	GM12878-XiMat	blood
39	chr10:99159800-99160400	Flanking Active TSS	NHLF	lung
40	chr10:99159800-99160600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr10:99159800-99160600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr10:99159800-99160600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr10:99159800-99160600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:99159800-99160600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:99159800-99160600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr10:99159800-99160600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr10:99159800-99160600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr10:99159800-99160600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr10:99159800-99160600	Flanking Active TSS	HUVEC	blood vessel
50	chr10:99159800-99160600	Flanking Active TSS	Osteobl	bone

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