Variant report

Variant	rs10135085
Chromosome Location	chr14:45552888-45552889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr14:45552615-45553937	Hela-S3	cervix:	n/a	chr14:45553274-45553283 chr14:45553273-45553284 chr14:45553277-45553285
2	MTA3	chr14:45552429-45553953	GM12878	blood:	n/a	n/a
3	RELA	chr14:45552693-45553760	GM19099	blood:	n/a	n/a
4	RFX5	chr14:45552748-45554542	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr14:45552875-45553569	HepG2	liver:	n/a	n/a
6	RUNX3	chr14:45552787-45553717	GM12878	blood:	n/a	n/a
7	RELA	chr14:45552730-45554023	GM10847	blood:	n/a	n/a
8	RELA	chr14:45552659-45553868	GM18505	blood:	n/a	n/a
9	POLR2A	chr14:45552743-45553940	SK-N-MC	brain:	n/a	n/a
10	HEY1	chr14:45552822-45553624	HepG2	liver:	n/a	chr14:45553255-45553270 chr14:45553532-45553547
11	BHLHE40	chr14:45552862-45554013	GM12878	blood:	n/a	n/a
12	EBF1	chr14:45552886-45554069	GM12878	blood:	n/a	chr14:45553289-45553300 chr14:45553291-45553300
13	POLR2A	chr14:45552617-45553946	GM12878	blood:	n/a	n/a
14	RELA	chr14:45552582-45553915	GM18951	blood:	n/a	n/a
15	TCF12	chr14:45552737-45553886	A549	lung:	n/a	n/a
16	POLR2A	chr14:45552790-45553700	GM12892	blood:	n/a	n/a
17	POLR2A	chr14:45552830-45554527	PBDE	blood:	n/a	n/a
18	TBP	chr14:45552875-45553924	H1-hESC	embryonic stem cell:	n/a	n/a
19	NFIC	chr14:45552747-45553717	GM12878	blood:	n/a	n/a
20	RUNX3	chr14:45552825-45553756	GM12878	blood:	n/a	n/a
21	MAX	chr14:45552822-45554128	A549	lung:	n/a	chr14:45553274-45553283 chr14:45553273-45553284 chr14:45553277-45553285
22	MXI1	chr14:45552259-45554589	IMR90	lung:	n/a	chr14:45553275-45553284
23	BHLHE40	chr14:45552726-45554076	K562	blood:	n/a	n/a
24	RELA	chr14:45552489-45553915	GM15510	blood:	n/a	n/a
25	POLR2A	chr14:45552782-45554159	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr14:45552559-45553950	HEK293	kidney:	n/a	n/a
27	RELA	chr14:45552415-45553631	GM19193	blood:	n/a	n/a
28	PML	chr14:45552803-45554091	GM12878	blood:	n/a	n/a
29	POLR2A	chr14:45552843-45554495	MCF10A-Er-Src	breast:	n/a	n/a
30	MAZ	chr14:45552741-45553674	GM12878	blood:	n/a	chr14:45553274-45553283 chr14:45553273-45553284 chr14:45553277-45553285
31	POLR2A	chr14:45552888-45553190	GM12892	blood:	n/a	n/a
32	MAZ	chr14:45552694-45553925	IMR90	lung:	n/a	chr14:45553274-45553283 chr14:45553273-45553284 chr14:45553277-45553285
33	POLR2A	chr14:45552826-45553716	HUVEC	blood vessel:	n/a	n/a
34	REST	chr14:45552768-45553952	H1-neurons	neurons:	n/a	chr14:45553632-45553645 chr14:45553497-45553511
35	BCLAF1	chr14:45552780-45553327	GM12878	blood:	n/a	n/a
36	TAF1	chr14:45552873-45553972	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAZ	chr14:45552868-45553878	K562	blood:	n/a	chr14:45553274-45553283 chr14:45553273-45553284 chr14:45553277-45553285
38	TBP	chr14:45552853-45554563	Hela-S3	cervix:	n/a	n/a
39	TBL1XR1	chr14:45552869-45553558	GM12878	blood:	n/a	n/a
40	POLR2A	chr14:45552759-45553953	GM19099	blood:	n/a	n/a
41	NRF1	chr14:45552611-45553525	GM12878	blood:	n/a	chr14:45553305-45553319 chr14:45553307-45553316 chr14:45553305-45553316 chr14:45553305-45553316
42	POLR2A	chr14:45552301-45553981	GM12891	blood:	n/a	n/a
43	POLR2A	chr14:45552812-45555002	MCF10A-Er-Src	breast:	n/a	n/a
44	ZMIZ1	chr14:45552794-45553552	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:45552862-45552912	ProgFib	skin:	n/a
2	chr14:45552862-45552912	SAEC	small airway:	n/a
3	chr14:45552862-45552912	AG09309	skin:	n/a
4	chr14:45552862-45552912	AG10803	skin:	n/a
5	chr14:45552862-45552912	CMK	blood:	n/a
6	chr14:45552862-45552912	HL-60	blood:	n/a
7	chr14:45552862-45552912	MCF-7	breast:	n/a
8	chr14:45552862-45552912	U87	brain:	n/a
9	chr14:45552862-45552912	SKMC	muscle:	n/a
10	chr14:45552862-45552912	Hela-S3	cervix:	n/a
11	chr14:45552862-45552912	PrEC	prostate:	n/a
12	chr14:45552862-45552912	GM06990	blood:	n/a
13	chr14:45552862-45552912	NHDF-neo	bronchial:	n/a
14	chr14:45552862-45552912	GM19239	blood:	n/a
15	chr14:45552862-45552912	HMEC	breast:	n/a
16	chr14:45552862-45552912	HCPEpiC	choroid plexus:	n/a
17	chr14:45552862-45552912	IMR90	lung:	fetal
18	chr14:45552862-45552912	PANC-1	pancreas:	n/a
19	chr14:45552862-45552912	AG09319	gingival:	n/a
20	chr14:45552862-45552912	HepG2	liver:	n/a
21	chr14:45552862-45552912	PFSK-1	brain:	n/a
22	chr14:45552862-45552912	H1-hESC	embryonic stem cell:	embryo
23	chr14:45552862-45552912	BJ	skin:	n/a
24	chr14:45552862-45552912	HCT-116	colon:	n/a
25	chr14:45552862-45552912	T-47D	breast:	n/a
26	chr14:45552862-45552912	SK-N-MC	brain:	n/a
27	chr14:45552862-45552912	HEEpiC	esophagus:	n/a
28	chr14:45552862-45552912	HRCEpiC	kidney:	n/a
29	chr14:45552862-45552912	ovcar-3	ovarian:	n/a
30	chr14:45552862-45552912	MCF10A-Er-Src	breast:	n/a
31	chr14:45552862-45552912	Hepatocyte	liver:	n/a
32	chr14:45552862-45552912	A549	lung:	n/a
33	chr14:45552862-45552912	HRPEpiC	eye:	n/a
34	chr14:45552862-45552912	NB4	blood:	n/a
35	chr14:45552862-45552912	BE2_C	brain:	n/a
36	chr14:45552862-45552912	NT2-D1	testis:	n/a
37	chr14:45552862-45552912	Jurkat	blood:	n/a
38	chr14:45552862-45552912	SK-N-SH_RA	brain:	n/a
39	chr14:45552862-45552912	HRE	kidney:	n/a
40	chr14:45552862-45552912	GM12892	blood:	n/a
41	chr14:45552862-45552912	AG04450	lung:	fetal
42	chr14:45552862-45552912	NH-A	brain:	n/a
43	chr14:45552862-45552912	HAEpiC	amniotic membrane:	n/a
44	chr14:45552862-45552912	SK-N-SH	brain:	n/a
45	chr14:45552862-45552912	HIPEpiC	eye:	n/a
46	chr14:45552862-45552912	LNCaP	prostate:	n/a
47	chr14:45552862-45552912	HPAEpiC	pulmonary alveolar:	n/a
48	chr14:45552862-45552912	Caco-2	colon:	n/a
49	chr14:45552862-45552912	AG04449	skin:	fetal
50	chr14:45552862-45552912	HCF	heart:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45552187..45554745-chr9:139890498..139892780,2	MCF-7	breast:
2	chr14:45552419..45555134-chr14:45577335..45584385,10	MCF-7	breast:
3	chr14:45430787..45433021-chr14:45551879..45555162,3	K562	blood:
4	chr14:45551908..45554831-chr14:45578936..45581671,3	MCF-7	breast:
5	chr14:45430704..45432872-chr14:45551768..45554827,3	K562	blood:
6	chr14:45552156..45555644-chr14:45564630..45569930,7	MCF-7	breast:
7	chr14:45552000..45555852-chr14:45600098..45605984,10	MCF-7	breast:
8	chr14:45552300..45554795-chr14:45602332..45605115,2	K562	blood:
9	chr14:45429808..45433002-chr14:45552349..45555813,4	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP3-1	chr14:45552675-45553180	ENSG00000249163
2	lnc-FKBP3-1	chr14:45552675-45553167	XLOC_011011
3	lnc-FKBP3-1	chr14:45552675-45553180	XLOC_011011
4	lnc-FKBP3-1	chr14:45552675-45552901	XLOC_011011
5	lnc-FKBP3-1	chr14:45552675-45553180	ENSG00000249163
6	lnc-FKBP3-1	chr14:45552675-45553180	ENSG00000249163
7	lnc-FKBP3-1	chr14:45552674-45552901	NONHSAT036637

No data

Variant related genes	Relation type
PRPF39	TF binding region
ENSG00000212615	TF binding region
PRPF39	CpG island
ENSG00000212615	CpG island
ENSG00000179454	Chromatin interaction
ENSG00000198718	Chromatin interaction
ENSG00000169583	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000185246	Chromatin interaction
ENSG00000239043	Chromatin interaction
ENSG00000100442	Chromatin interaction

Extended variants
information (count: 146 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10129173	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10130368	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs10130377	1.00[CEU][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes]
rs10131066	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10131615	1.00[ASW][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132389	0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10132547	1.00[ASW][hapmap];0.89[JPT][hapmap];0.98[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10132949	1.00[ASW][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10134071	1.00[ASW][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10134598	0.88[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];0.82[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10135890	0.88[ASW][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes]
rs10136008	0.83[EUR][1000 genomes]
rs10136855	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10136926	0.83[AMR][1000 genomes]
rs10138272	0.88[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10138997	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10139998	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10140013	0.85[AMR][1000 genomes]
rs10140049	1.00[ASW][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10140108	0.85[AMR][1000 genomes]
rs10140222	1.00[ASW][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.98[MKK][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10140318	0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10141474	1.00[CEU][hapmap];0.87[JPT][hapmap];0.88[YRI][hapmap];0.85[EUR][1000 genomes]
rs10143806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145092	0.94[ASW][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10145267	0.89[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes]
rs10146395	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10147499	0.89[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10149484	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10150646	0.82[GIH][hapmap];0.84[MEX][hapmap]
rs10152101	0.94[ASW][hapmap];0.89[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes]
rs1053667	0.89[JPT][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11157423	0.89[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs11157424	0.94[ASW][hapmap];0.89[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs11844832	0.89[JPT][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11845088	0.89[JPT][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11845904	0.83[TSI][hapmap]
rs11845956	1.00[ASW][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11846656	0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs11847336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11848799	0.89[JPT][hapmap];0.83[TSI][hapmap]
rs11849208	0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs11849583	0.81[EUR][1000 genomes]
rs11850363	0.89[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11852210	0.83[TSI][hapmap]
rs12100842	0.88[ASW][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17115703	0.89[JPT][hapmap]
rs17115718	0.89[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17115787	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.83[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17115809	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];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115811	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2016738	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2033385	0.88[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.87[EUR][1000 genomes]
rs28370281	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs28448551	1.00[ASW][hapmap];0.89[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28517769	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28558522	0.82[AMR][1000 genomes]
rs28572336	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28594810	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28622413	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28637857	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28681969	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28695721	0.88[AMR][1000 genomes]
rs28703636	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28756151	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2899960	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3783700	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3783702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3825625	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3825627	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3825628	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3825629	0.89[JPT][hapmap];0.93[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4141578	0.89[JPT][hapmap]
rs56706956	0.85[EUR][1000 genomes]
rs56836063	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57003561	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57602646	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57614513	0.85[EUR][1000 genomes]
rs57694277	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58826926	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59353994	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60891427	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61155826	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61707578	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6572290	0.83[TSI][hapmap]
rs66488071	0.81[EUR][1000 genomes]
rs66535982	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67643245	0.81[EUR][1000 genomes]
rs7140739	0.82[GIH][hapmap];0.84[MEX][hapmap]
rs7145831	0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7145870	0.85[AMR][1000 genomes]
rs7146566	0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7147644	0.89[JPT][hapmap]
rs7147811	0.88[AMR][1000 genomes]
rs7153451	0.81[AMR][1000 genomes]
rs7158846	0.94[ASW][hapmap];0.89[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.89[YRI][hapmap]
rs7161603	0.83[AMR][1000 genomes]
rs72474138	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73334135	0.85[AMR][1000 genomes]
rs73334154	0.85[AMR][1000 genomes]
rs73334172	0.85[AMR][1000 genomes]
rs73334913	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73340611	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73340622	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73340626	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73340655	0.87[EUR][1000 genomes]
rs73340659	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73346351	0.81[EUR][1000 genomes]
rs73346360	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73348065	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73348069	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73348076	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73348079	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73348088	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73348095	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73349816	0.83[ASN][1000 genomes]
rs73349820	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73349835	1.00[ASN][1000 genomes]
rs73349842	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73349853	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73349857	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73349858	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73349868	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73350201	0.81[EUR][1000 genomes]
rs73352233	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73352238	0.82[EUR][1000 genomes]
rs73353644	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs73353657	0.84[AMR][1000 genomes]
rs7493246	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7493823	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8006685	1.00[ASW][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8009193	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8015453	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8017844	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8022008	1.00[ASW][hapmap];0.89[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8022499	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8022608	1.00[CEU][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9323106	0.89[JPT][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10135085	RP11-398E10.1	cis	Nerve Tibial	GTEx
rs10135085	FANCM	cis	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45509200-45553000	Weak transcription	Gastric	stomach
2	chr14:45524800-45553400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:45535600-45553000	Weak transcription	Small Intestine	intestine
4	chr14:45551600-45553000	Flanking Active TSS	A549	lung
5	chr14:45551800-45553000	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr14:45552200-45553600	Active TSS	Primary hematopoietic stem cells	blood
7	chr14:45552400-45553200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:45552400-45553200	Flanking Active TSS	Dnd41	blood
9	chr14:45552600-45553000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:45552600-45553000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:45552600-45553000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:45552600-45553000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:45552600-45553000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr14:45552600-45553000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr14:45552600-45553000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr14:45552600-45553000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr14:45552600-45553000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr14:45552600-45553000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:45552600-45553000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:45552600-45553000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:45552600-45553000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:45552600-45553000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:45552600-45553000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr14:45552600-45553000	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr14:45552600-45553000	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr14:45552600-45553000	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr14:45552600-45553000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr14:45552600-45553000	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr14:45552600-45553000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr14:45552600-45553000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr14:45552600-45553000	Flanking Active TSS	Thymus	Thymus
32	chr14:45552600-45553000	Enhancers	Spleen	Spleen
33	chr14:45552600-45553000	Flanking Active TSS	Hela-S3	cervix
34	chr14:45552600-45553000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr14:45552600-45553000	Flanking Active TSS	NH-A	brain
36	chr14:45552600-45553000	Flanking Active TSS	Osteobl	bone
37	chr14:45552600-45553200	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr14:45552600-45553200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr14:45552600-45553200	Flanking Active TSS	Liver	Liver
40	chr14:45552600-45553200	Flanking Active TSS	NHEK	skin
41	chr14:45552600-45554200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:45552600-45554200	Active TSS	Colon Smooth Muscle	Colon
43	chr14:45552600-45554400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:45552600-45554400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr14:45552600-45554600	Active TSS	Colonic Mucosa	Colon
46	chr14:45552600-45554600	Active TSS	HepG2	liver
47	chr14:45552600-45554800	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr14:45552600-45554800	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr14:45552600-45554800	Active TSS	Right Atrium	heart
50	chr14:45552600-45555000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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Variant report

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