Variant report

Variant	rs17881698
Chromosome Location	chr1:45266832-45266833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:45266442-45266933	SK-N-SH	brain:	n/a	n/a
2	JUN	chr1:45265161-45266896	K562	blood:	n/a	n/a
3	MXI1	chr1:45265270-45266876	IMR90	lung:	n/a	chr1:45265665-45265680
4	GATA2	chr1:45266583-45266878	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr1:45265301-45266849	K562	blood:	n/a	n/a
6	CHD1	chr1:45265265-45266961	IMR90	lung:	n/a	chr1:45265863-45265873 chr1:45266636-45266646
7	GATA2	chr1:45266396-45266903	SH-SY5Y	brain:	n/a	n/a
8	POLR2A	chr1:45265285-45266862	HL-60	blood:	n/a	n/a
9	HEY1	chr1:45265268-45266874	K562	blood:	n/a	chr1:45265852-45265867 chr1:45265618-45265633 chr1:45265843-45265858
10	RAD21	chr1:45265155-45266869	SK-N-SH	brain:	n/a	chr1:45266471-45266481 chr1:45265801-45265814
11	POLR2A	chr1:45265335-45266847	GM12878	blood:	n/a	n/a
12	MAX	chr1:45266667-45266840	K562	blood:	n/a	n/a
13	HCFC1	chr1:45265177-45266977	Hela-S3	cervix:	n/a	n/a
14	MTA3	chr1:45265208-45266896	GM12878	blood:	n/a	n/a
15	ETS1	chr1:45266426-45266833	K562	blood:	n/a	n/a
16	POLR2A	chr1:45265294-45266880	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr1:45265240-45266873	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:45265241-45266849	HUVEC	blood vessel:	n/a	n/a
19	ZNF384	chr1:45266759-45266881	K562	blood:	n/a	n/a
20	POLR2A	chr1:45266432-45266848	SK-N-SH	brain:	n/a	n/a
21	WRNIP1	chr1:45266678-45266847	GM12878	blood:	n/a	n/a
22	REST	chr1:45265204-45266974	H1-neurons	neurons:	n/a	chr1:45265623-45265636 chr1:45265895-45265908 chr1:45265293-45265306 chr1:45266031-45266044
23	GATA3	chr1:45266603-45266875	SH-SY5Y	brain:	n/a	n/a
24	CREB1	chr1:45265276-45266885	K562	blood:	n/a	n/a
25	POLR2A	chr1:45265335-45266936	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr1:45265271-45266888	Hela-S3	cervix:	n/a	n/a
27	CREB1	chr1:45265276-45266857	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr1:45265179-45266906	HCT-116	colon:	n/a	chr1:45265561-45265568 chr1:45265623-45265633
29	MXI1	chr1:45265052-45266918	SK-N-SH	brain:	n/a	chr1:45265665-45265680
30	POLR2A	chr1:45265259-45266858	GM12892	blood:	n/a	n/a
31	POLR2A	chr1:45265303-45266832	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr1:45265236-45266954	K562	blood:	n/a	n/a
33	SIN3AK20	chr1:45265277-45266872	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr1:45265036-45267289	HepG2	liver:	n/a	n/a
35	POLR2A	chr1:45265151-45266841	HCT-116	colon:	n/a	n/a
36	MAZ	chr1:45265199-45266936	IMR90	lung:	n/a	chr1:45265561-45265568 chr1:45265623-45265633
37	CHD1	chr1:45266676-45266847	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:45265243-45266884	GM12878	blood:	n/a	n/a
39	MAX	chr1:45265251-45266913	K562	blood:	n/a	chr1:45265561-45265568 chr1:45265623-45265633

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:45266782-45266832	Hepatocyte	liver:	n/a
2	chr1:45266782-45266832	AG09319	gingival:	n/a
3	chr1:45266782-45266832	AG04449	skin:	fetal
4	chr1:45266782-45266832	A549	lung:	n/a
5	chr1:45266782-45266832	LNCaP	prostate:	n/a
6	chr1:45266782-45266832	PANC-1	pancreas:	n/a
7	chr1:45266782-45266832	GM06990	blood:	n/a
8	chr1:45266782-45266832	H1-hESC	embryonic stem cell:	embryo
9	chr1:45266782-45266832	AoSMC	blood vessel:	n/a
10	chr1:45266782-45266832	ProgFib	skin:	n/a
11	chr1:45266782-45266832	HRPEpiC	eye:	n/a
12	chr1:45266782-45266832	HRE	kidney:	n/a
13	chr1:45266782-45266832	PrEC	prostate:	n/a
14	chr1:45266782-45266832	ECC-1	luminal epithelium:	n/a
15	chr1:45266782-45266832	HEK293	kidney:	embryo
16	chr1:45266782-45266832	BE2_C	brain:	n/a
17	chr1:45266782-45266832	SK-N-SH_RA	brain:	n/a
18	chr1:45266782-45266832	HNPCEpiC	eye:	n/a
19	chr1:45266782-45266832	HCT-116	colon:	n/a
20	chr1:45266782-45266832	HEEpiC	esophagus:	n/a
21	chr1:45266782-45266832	GM19239	blood:	n/a
22	chr1:45266782-45266832	Jurkat	blood:	n/a
23	chr1:45266782-45266832	HUVEC	blood vessel:	n/a
24	chr1:45266782-45266832	IMR90	lung:	fetal
25	chr1:45266782-45266832	NT2-D1	testis:	n/a
26	chr1:45266782-45266832	U87	brain:	n/a
27	chr1:45266782-45266832	BJ	skin:	n/a
28	chr1:45266782-45266832	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:45266782-45266832	GM12878	blood:	n/a
30	chr1:45266782-45266832	HCF	heart:	n/a
31	chr1:45266782-45266832	HRCEpiC	kidney:	n/a
32	chr1:45266782-45266832	HAEpiC	amniotic membrane:	n/a
33	chr1:45266782-45266832	GM12891	blood:	n/a
34	chr1:45266782-45266832	AG10803	skin:	n/a
35	chr1:45266782-45266832	SK-N-MC	brain:	n/a
36	chr1:45266782-45266832	SK-N-SH	brain:	n/a
37	chr1:45266782-45266832	HCPEpiC	choroid plexus:	n/a
38	chr1:45266782-45266832	HepG2	liver:	n/a
39	chr1:45266782-45266832	Hela-S3	cervix:	n/a
40	chr1:45266782-45266832	NHBE	bronchial:	n/a
41	chr1:45266782-45266832	SKMC	muscle:	n/a
42	chr1:45266782-45266832	NHDF-neo	bronchial:	n/a
43	chr1:45266782-45266832	SAEC	small airway:	n/a
44	chr1:45266782-45266832	NH-A	brain:	n/a
45	chr1:45266782-45266832	AG09309	skin:	n/a
46	chr1:45266782-45266832	MCF10A-Er-Src	breast:	n/a
47	chr1:45266782-45266832	CMK	blood:	n/a
48	chr1:45266782-45266832	HCM	heart:	n/a
49	chr1:45266782-45266832	ovcar-3	ovarian:	n/a
50	chr1:45266782-45266832	PFSK-1	brain:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45205245..45207359-chr1:45265556..45268016,2	MCF-7	breast:
2	chr1:45264279..45267905-chr1:45476139..45480748,9	K562	blood:
3	chr1:45194731..45198369-chr1:45262951..45267593,8	MCF-7	breast:
4	chr1:45186012..45189065-chr1:45262922..45268915,8	MCF-7	breast:
5	chr1:45239518..45243020-chr1:45264375..45267077,6	MCF-7	breast:
6	chr1:45262923..45267744-chr1:45767225..45772183,8	K562	blood:
7	chr1:45138566..45141370-chr1:45265919..45267652,2	K562	blood:
8	chr1:45194156..45199355-chr1:45264282..45268731,9	MCF-7	breast:
9	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
10	chr1:45265558..45267516-chr1:45964222..45967034,2	K562	blood:
11	chr1:45239609..45242950-chr1:45264036..45267552,6	MCF-7	breast:
12	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
13	chr1:45264355..45267553-chr1:45476139..45481796,8	K562	blood:
14	chr1:45264684..45267553-chr1:45478723..45482931,4	MCF-7	breast:
15	chr1:45210802..45212965-chr1:45265931..45268698,2	K562	blood:
16	chr1:45248852..45254229-chr1:45263166..45267959,10	MCF-7	breast:
17	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:

No data

Variant related genes	Relation type
PLK3	TF binding region
PLK3	CpG island
ENSG00000200169	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000126106	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000234093	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000236624	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000132763	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10890313	0.93[CEU][hapmap]
rs11211025	0.92[CEU][hapmap]
rs11211026	0.93[CEU][hapmap];0.85[TSI][hapmap]
rs11211036	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11211038	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11211040	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11211045	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11211048	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11211051	0.89[ASN][1000 genomes]
rs11211053	0.93[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1140279	0.89[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11556200	0.85[CHD][hapmap]
rs11573542	0.91[ASN][1000 genomes]
rs11573557	0.89[ASN][1000 genomes]
rs11573559	0.89[ASN][1000 genomes]
rs11573562	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.89[ASN][1000 genomes]
rs11573592	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11578233	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11580010	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11580159	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11582718	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11584440	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];0.95[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]
rs11800505	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11801990	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs11803622	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11806832	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11809931	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12125367	0.85[CHD][hapmap]
rs12126318	0.82[CHD][hapmap]
rs12126557	0.84[CEU][hapmap]
rs12139143	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap];0.89[ASN][1000 genomes]
rs12566610	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12569156	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12723764	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12729917	0.89[ASN][1000 genomes]
rs12732939	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12733586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs12733796	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12735038	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12735637	0.85[CHD][hapmap]
rs12735728	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12738360	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12741443	0.92[ASN][1000 genomes]
rs12746270	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12749130	0.85[CHD][hapmap]
rs16832227	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832263	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.89[ASN][1000 genomes]
rs16832265	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17883049	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17886118	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2295997	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2295998	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2295999	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs263989	0.85[CHD][hapmap]
rs264022	0.85[CHD][hapmap]
rs264025	0.85[CHD][hapmap]
rs34436945	0.89[ASN][1000 genomes]
rs34541568	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34639510	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34984079	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35343809	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35932693	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35957134	0.92[ASN][1000 genomes]
rs364482	0.85[CHD][hapmap]
rs3795713	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3795714	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3795719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3820586	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4342887	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4399199	0.85[CHD][hapmap]
rs57995027	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59366549	0.89[ASN][1000 genomes]
rs59788723	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6429549	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6429550	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6670449	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6676749	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];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6689911	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6692487	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6695350	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6697153	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6702415	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6703452	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap];0.89[ASN][1000 genomes]
rs6704436	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67408784	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67742332	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7517439	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7517639	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs7527787	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7528461	0.92[ASN][1000 genomes]
rs7534487	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7536078	0.94[CHB][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7539538	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7546285	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
3	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
4	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
5	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
6	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
7	nsv461406	chr1:45218542-45293518	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
8	nsv546145	chr1:45218542-45293518	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
9	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
10	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
11	nsv871320	chr1:45259295-45274841	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	58 gene(s)	inside rSNPs	diseases
12	nsv870773	chr1:45259295-45287306	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
13	nsv870876	chr1:45264545-45273531	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
14	nsv546147	chr1:45264874-45271097	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	44 gene(s)	inside rSNPs	diseases
15	esv3404071	chr1:45264890-45267738	Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs17881698	SNORD55	cis	cerebellum	SCAN
rs17881698	SNORD55	cis	parietal	SCAN
rs17881698	BEST4	cis	lymphoblastoid	seeQTL
rs17881698	TIE1	cis	parietal	SCAN
rs17881698	UROD	cis	Artery Tibial	GTEx
rs17881698	EIF2B3	cis	cerebellum	SCAN
rs17881698	UROD	cis	lung	GTEx
rs17881698	ZNF691	cis	cerebellum	SCAN
rs17881698	FOXJ3	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45265200-45267200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:45265200-45267200	Active TSS	Fetal Kidney	kidney
3	chr1:45265200-45267600	Active TSS	Primary T cells from cord blood	blood
4	chr1:45265200-45267600	Active TSS	Brain Angular Gyrus	brain
5	chr1:45265200-45267600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:45265200-45267600	Active TSS	Brain Substantia Nigra	brain
7	chr1:45265200-45267600	Active TSS	Fetal Brain Female	brain
8	chr1:45265200-45267600	Active TSS	Rectal Smooth Muscle	rectum
9	chr1:45265200-45267600	Active TSS	Right Ventricle	heart
10	chr1:45265200-45267600	Active TSS	Thymus	Thymus
11	chr1:45265200-45267600	Active TSS	HSMM	muscle
12	chr1:45265200-45267800	Active TSS	Colon Smooth Muscle	Colon
13	chr1:45265200-45268200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:45265400-45267200	Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr1:45265400-45267200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr1:45265400-45267200	Active TSS	Brain Cingulate Gyrus	brain
17	chr1:45265400-45267200	Active TSS	NHEK	skin
18	chr1:45265400-45267400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr1:45265400-45267400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr1:45265400-45267400	Active TSS	Fetal Intestine Large	intestine
21	chr1:45265400-45267600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:45265400-45267600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr1:45265400-45267600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:45265400-45267600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:45265400-45267600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:45265400-45267600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:45265400-45267600	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr1:45265400-45267600	Active TSS	Muscle Satellite Cultured Cells	--
29	chr1:45265400-45267600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:45265400-45267600	Active TSS	Esophagus	oesophagus
31	chr1:45265400-45267600	Active TSS	Left Ventricle	heart
32	chr1:45265400-45267600	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr1:45265400-45267600	Active TSS	A549	lung
34	chr1:45265400-45267600	Active TSS	Hela-S3	cervix
35	chr1:45265400-45267600	Active TSS	Osteobl	bone
36	chr1:45265600-45267200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:45265600-45267200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:45265600-45267200	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr1:45265600-45267200	Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:45265600-45267400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:45265600-45267600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:45265600-45267600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:45265600-45267600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:45265600-45267600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr1:45265600-45267600	Active TSS	Lung	lung
46	chr1:45265600-45267600	Active TSS	Small Intestine	intestine
47	chr1:45265600-45267600	Active TSS	HSMMtube	muscle
48	chr1:45265600-45267600	Active TSS	HUVEC	blood vessel
49	chr1:45265600-45267600	Active TSS	NH-A	brain
50	chr1:45265600-45267600	Active TSS	NHLF	lung

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