Variant report

Variant	rs2236576
Chromosome Location	chr1:45477675-45477676
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:394)
CpG islands
(count:61)
Chromatin interactive
region (count:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr1:45477555-45478122	HepG2	liver:	n/a	chr1:45477776-45477790
2	SRF	chr1:45477597-45477858	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:45477575-45478939	Hela-S3	cervix:	n/a	n/a
4	FOS	chr1:45477602-45477900	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr1:45477610-45479050	K562	blood:	n/a	chr1:45477970-45477980 chr1:45477973-45477980
6	STAT3	chr1:45477628-45477943	MCF10A-Er-Src	breast:	n/a	chr1:45477663-45477671
7	POLR2A	chr1:45477548-45478749	Hela-S3	cervix:	n/a	n/a
8	KAP1	chr1:45476798-45478446	HEK293	kidney:	n/a	chr1:45477407-45477416
9	GTF2F1	chr1:45477534-45478164	Hela-S3	cervix:	n/a	n/a
10	SIN3AK20	chr1:45477642-45478046	PFSK-1	brain:	n/a	n/a
11	MXI1	chr1:45477478-45479084	SK-N-SH	brain:	n/a	n/a
12	MAX	chr1:45477632-45478038	HUVEC	blood vessel:	n/a	chr1:45477970-45477980 chr1:45477973-45477980
13	ARID3A	chr1:45477576-45478726	K562	blood:	n/a	n/a
14	CREB1	chr1:45477467-45478154	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr1:45477412-45478011	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr1:45477608-45479077	H1-hESC	embryonic stem cell:	n/a	chr1:45477970-45477980 chr1:45477973-45477980
17	TCF12	chr1:45477410-45478162	ECC-1	luminal epithelium:	n/a	n/a
18	CEBPD	chr1:45477543-45478888	K562	blood:	n/a	n/a
19	WRNIP1	chr1:45477470-45477981	GM12878	blood:	n/a	n/a
20	RUNX3	chr1:45477517-45478185	GM12878	blood:	n/a	n/a
21	MAZ	chr1:45477549-45478641	HepG2	liver:	n/a	chr1:45477970-45477980 chr1:45477973-45477980
22	MYC	chr1:45477551-45479020	K562	blood:	n/a	chr1:45477970-45477980 chr1:45477973-45477980
23	MYBL2	chr1:45477487-45478280	HepG2	liver:	n/a	n/a
24	MXI1	chr1:45477648-45478965	K562	blood:	n/a	n/a
25	POLR2A	chr1:45477608-45478720	HepG2	liver:	n/a	n/a
26	JUND	chr1:45477632-45478030	HepG2	liver:	n/a	n/a
27	SIX5	chr1:45477661-45478049	K562	blood:	n/a	n/a
28	MAX	chr1:45477362-45478987	HepG2	liver:	n/a	chr1:45477970-45477980 chr1:45477973-45477980
29	CREB1	chr1:45477547-45478055	A549	lung:	n/a	n/a
30	CBX3	chr1:45476780-45479180	K562	blood:	n/a	n/a
31	YY1	chr1:45477489-45478080	HCT-116	colon:	n/a	chr1:45477776-45477790
32	POLR2A	chr1:45477529-45478121	SK-N-MC	brain:	n/a	n/a
33	TCF12	chr1:45477386-45478245	A549	lung:	n/a	n/a
34	TAF1	chr1:45477630-45478108	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr1:45477585-45478731	PFSK-1	brain:	n/a	n/a
36	SP1	chr1:45477546-45478121	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr1:45477588-45478956	PBDE	blood:	n/a	n/a
38	MBD4	chr1:45477360-45477997	HepG2	liver:	n/a	n/a
39	POLR2A	chr1:45477368-45478870	K562	blood:	n/a	n/a
40	MAFK	chr1:45476621-45478788	GM12878	blood:	n/a	chr1:45477404-45477414
41	FOSL2	chr1:45477535-45477992	A549	lung:	n/a	n/a
42	PAX5	chr1:45477644-45477966	GM12878	blood:	n/a	n/a
43	MEF2A	chr1:45477638-45478732	K562	blood:	n/a	chr1:45478694-45478702
44	TAF1	chr1:45477615-45478210	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:45477475-45482921	K562	blood:	n/a	n/a
46	CUX1	chr1:45476970-45478744	K562	blood:	n/a	n/a
47	CEBPD	chr1:45477523-45478931	K562	blood:	n/a	n/a
48	MAX	chr1:45477625-45479025	K562	blood:	n/a	chr1:45477970-45477980 chr1:45477973-45477980
49	CEBPB	chr1:45477351-45478087	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:45477546-45479169	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:45477636-45477686	AG10803	skin:	n/a
2	chr1:45477636-45477686	HCF	heart:	n/a
3	chr1:45477636-45477686	AG04450	lung:	fetal
4	chr1:45477636-45477686	U87	brain:	n/a
5	chr1:45477636-45477686	RPTEC	kidney:	n/a
6	chr1:45477636-45477686	PFSK-1	brain:	n/a
7	chr1:45477636-45477686	LNCaP	prostate:	n/a
8	chr1:45477636-45477686	MCF10A-Er-Src	breast:	n/a
9	chr1:45477636-45477686	HEEpiC	esophagus:	n/a
10	chr1:45477636-45477686	NH-A	brain:	n/a
11	chr1:45477636-45477686	SKMC	muscle:	n/a
12	chr1:45477636-45477686	NB4	blood:	n/a
13	chr1:45477636-45477686	AG09309	skin:	n/a
14	chr1:45477636-45477686	ECC-1	luminal epithelium:	n/a
15	chr1:45477636-45477686	SK-N-SH_RA	brain:	n/a
16	chr1:45477636-45477686	GM19239	blood:	n/a
17	chr1:45477636-45477686	K562	blood:	n/a
18	chr1:45477636-45477686	SK-N-MC	brain:	n/a
19	chr1:45477636-45477686	Hepatocyte	liver:	n/a
20	chr1:45477636-45477686	BJ	skin:	n/a
21	chr1:45477636-45477686	Caco-2	colon:	n/a
22	chr1:45477636-45477686	HCM	heart:	n/a
23	chr1:45477636-45477686	CMK	blood:	n/a
24	chr1:45477636-45477686	NHBE	bronchial:	n/a
25	chr1:45477636-45477686	HRE	kidney:	n/a
26	chr1:45477636-45477686	ovcar-3	ovarian:	n/a
27	chr1:45477636-45477686	IMR90	lung:	fetal
28	chr1:45477636-45477686	H1-hESC	embryonic stem cell:	embryo
29	chr1:45477636-45477686	HCPEpiC	choroid plexus:	n/a
30	chr1:45477636-45477686	HNPCEpiC	eye:	n/a
31	chr1:45477636-45477686	A549	lung:	n/a
32	chr1:45477636-45477686	SAEC	small airway:	n/a
33	chr1:45477636-45477686	PANC-1	pancreas:	n/a
34	chr1:45477636-45477686	NHDF-neo	bronchial:	n/a
35	chr1:45477636-45477686	GM12891	blood:	n/a
36	chr1:45477636-45477686	HMEC	breast:	n/a
37	chr1:45477636-45477686	AoSMC	blood vessel:	n/a
38	chr1:45477636-45477686	PrEC	prostate:	n/a
39	chr1:45477636-45477686	AG04449	skin:	fetal
40	chr1:45477636-45477686	HPAEpiC	pulmonary alveolar:	n/a
41	chr1:45477636-45477686	HRCEpiC	kidney:	n/a
42	chr1:45477636-45477686	HCT-116	colon:	n/a
43	chr1:45477636-45477686	HRPEpiC	eye:	n/a
44	chr1:45477636-45477686	GM12878	blood:	n/a
45	chr1:45477636-45477686	MCF-7	breast:	n/a
46	chr1:45477636-45477686	ProgFib	skin:	n/a
47	chr1:45477636-45477686	GM12892	blood:	n/a
48	chr1:45477636-45477686	AG09319	gingival:	n/a
49	chr1:45477636-45477686	HL-60	blood:	n/a
50	chr1:45477636-45477686	HUVEC	blood vessel:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45305082..45310090-chr1:45475264..45482808,8	K562	blood:
2	chr1:45477030..45479805-chr1:46047527..46050763,5	K562	blood:
3	chr1:45193444..45198675-chr1:45475617..45480324,16	K562	blood:
4	chr1:45269727..45273120-chr1:45475175..45479286,6	K562	blood:
5	chr1:45264279..45267905-chr1:45476139..45480748,9	K562	blood:
6	chr1:45239135..45244789-chr1:45475459..45482236,15	K562	blood:
7	chr1:45476252..45479466-chr1:46015891..46017851,3	K562	blood:
8	chr1:45471285..45474230-chr1:45476025..45477954,2	MCF-7	breast:
9	chr1:45476357..45485239-chr1:45761850..45773601,48	K562	blood:
10	chr1:45451300..45453679-chr1:45476530..45479236,3	MCF-7	breast:
11	chr1:45306981..45310503-chr1:45474976..45481200,7	K562	blood:
12	chr1:45449901..45454181-chr1:45475970..45480540,16	K562	blood:
13	chr1:45268954..45275189-chr1:45475024..45480055,7	K562	blood:
14	chr1:45476992..45480023-chr1:45798913..45801605,5	K562	blood:
15	chr1:45282320..45290015-chr1:45470338..45482903,45	K562	blood:
16	chr1:45284268..45287037-chr1:45476110..45479807,4	MCF-7	breast:
17	chr1:45194719..45198675-chr1:45474706..45481379,10	K562	blood:
18	chr1:45186675..45188755-chr1:45476881..45478812,3	MCF-7	breast:
19	chr1:45184334..45189303-chr1:45475138..45480545,18	K562	blood:
20	chr1:45455788..45461421-chr1:45474837..45478788,5	MCF-7	breast:
21	chr1:45283389..45288095-chr1:45474959..45480313,6	MCF-7	breast:
22	chr1:45239617..45241510-chr1:45476171..45478089,2	MCF-7	breast:
23	chr1:45240714..45243157-chr1:45476342..45480108,4	MCF-7	breast:
24	chr1:45281186..45291350-chr1:45463934..45483092,44	K562	blood:
25	chr1:45194277..45197109-chr1:45476180..45479040,2	MCF-7	breast:
26	chr1:45476210..45477994-chr1:45804757..45807098,3	MCF-7	breast:
27	chr1:45476992..45479513-chr1:45797519..45802277,7	K562	blood:
28	chr1:45476953..45479637-chr1:45985604..45989189,5	K562	blood:
29	chr1:45239592..45244618-chr1:45476667..45480609,10	K562	blood:
30	chr1:45273315..45275597-chr1:45475668..45479411,4	K562	blood:
31	chr1:45475963..45478525-chr1:45804448..45806898,2	MCF-7	breast:
32	chr1:45424040..45425875-chr1:45477407..45479343,2	K562	blood:
33	chr1:45476699..45479087-chr1:45821651..45824622,2	MCF-7	breast:
34	chr1:45477548..45478355-chr1:144533708..144534378,3	Hela-S3	cervix:
35	chr1:45264355..45267553-chr1:45476139..45481796,8	K562	blood:
36	chr1:45184334..45189289-chr1:45475449..45480431,12	K562	blood:
37	chr1:45477405..45478123-chr5:177630913..177631748,2	Hela-S3	cervix:
38	chr1:45476976..45478536-chr1:45986194..45987782,2	K562	blood:
39	chr1:45476853..45482658-chr1:45802506..45807966,11	K562	blood:
40	chr1:45476265..45486633-chr1:45761064..45774272,63	K562	blood:

No data

Variant related genes	Relation type
UROD	TF binding region
HECTD3	TF binding region
UROD	CpG island
HECTD3	CpG island
ENSG00000142937	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000268949	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000229815	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000238945	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000226499	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000202031	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10465876	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10749854	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11211059	0.82[AFR][1000 genomes]
rs11211066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211067	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11556200	0.84[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap]
rs11576875	0.87[AFR][1000 genomes]
rs11801218	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802780	0.85[AFR][1000 genomes]
rs11806079	0.85[AFR][1000 genomes]
rs11809982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117432	0.82[AFR][1000 genomes]
rs12118189	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12125367	0.84[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs12126314	0.84[CEU][hapmap];0.84[CHB][hapmap]
rs12126318	0.84[CEU][hapmap];0.84[CHB][hapmap];0.85[CHD][hapmap]
rs12127012	0.87[AFR][1000 genomes]
rs12134146	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12139143	0.85[CHD][hapmap]
rs12142302	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12143560	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12239165	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12724597	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12724852	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12731245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12732402	0.87[AFR][1000 genomes]
rs12735549	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12735637	0.84[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs12738542	0.83[CEU][hapmap];0.83[CHB][hapmap]
rs12739545	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12740561	0.82[AFR][1000 genomes]
rs12749130	0.84[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12749939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs12755554	0.84[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap]
rs12755751	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12758547	0.85[AFR][1000 genomes]
rs12760109	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17393404	0.85[AFR][1000 genomes]
rs183809	0.84[CEU][hapmap]
rs2050869	0.95[CEU][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2275598	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2275599	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2298005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs263989	0.84[CEU][hapmap];0.89[CHD][hapmap]
rs263991	0.84[CEU][hapmap]
rs263992	0.84[CEU][hapmap]
rs264022	0.84[CEU][hapmap];0.89[CHD][hapmap]
rs264025	0.84[CEU][hapmap];0.89[CHD][hapmap]
rs364482	0.89[CHD][hapmap]
rs3806405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4399199	0.84[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap]
rs56875328	0.87[AFR][1000 genomes]
rs6666806	0.90[GIH][hapmap]
rs6671633	0.82[GIH][hapmap]
rs6678726	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6678762	0.87[AFR][1000 genomes]
rs6692713	0.84[CEU][hapmap];0.84[CHB][hapmap]
rs6703452	0.85[CHD][hapmap]
rs7514998	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7517439	0.85[CHD][hapmap]
rs7519454	0.82[AFR][1000 genomes]
rs7521339	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7525733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7535347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7541207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7541351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553658	0.84[CEU][hapmap];0.84[CHB][hapmap]
rs8681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs998418	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2236576	UROD	cis	Thyroid	GTEx
rs2236576	EIF2B3	cis	parietal	SCAN
rs2236576	UROD	cis	Esophagus Muscularis	GTEx
rs2236576	UROD	cis	multi-tissue	Pritchard
rs2236576	UROD	cis	Adipose Subcutaneous	GTEx
rs2236576	UROD	cis	Nerve Tibial	GTEx
rs2236576	UROD	cis	Artery Tibial	GTEx
rs2236576	EIF2B3	cis	cerebellum	SCAN
rs2236576	TMEM69	cis	cerebellum	SCAN
rs2236576	SNORD55	cis	parietal	SCAN
rs2236576	SNORD55	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45475600-45480400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:45475800-45478600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:45475800-45478800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr1:45475800-45479200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr1:45476000-45478600	Active TSS	Aorta	Aorta
6	chr1:45476000-45479000	Active TSS	Ovary	ovary
7	chr1:45476400-45478200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:45476400-45478600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:45476400-45478600	Active TSS	Lung	lung
10	chr1:45476400-45478800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:45476600-45478200	Active TSS	Fetal Muscle Trunk	muscle
12	chr1:45476600-45478600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:45476800-45478200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:45476800-45478400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:45477000-45477800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:45477000-45477800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr1:45477000-45477800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:45477000-45477800	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr1:45477000-45477800	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr1:45477000-45477800	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr1:45477000-45477800	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr1:45477000-45477800	Flanking Active TSS	Fetal Stomach	stomach
23	chr1:45477000-45477800	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr1:45477000-45477800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr1:45477000-45477800	Flanking Active TSS	Dnd41	blood
26	chr1:45477000-45477800	Flanking Active TSS	GM12878-XiMat	blood
27	chr1:45477000-45477800	Flanking Active TSS	Hela-S3	cervix
28	chr1:45477000-45477800	Flanking Active TSS	HMEC	breast
29	chr1:45477000-45477800	Flanking Active TSS	NHEK	skin
30	chr1:45477000-45478400	Flanking Active TSS	K562	blood
31	chr1:45477000-45478400	Flanking Active TSS	NH-A	brain
32	chr1:45477000-45478600	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr1:45477000-45478600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:45477000-45478800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr1:45477000-45478800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr1:45477000-45478800	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr1:45477000-45478800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr1:45477000-45478800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr1:45477000-45478800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr1:45477000-45478800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr1:45477000-45478800	Flanking Active TSS	Placenta	Placenta
42	chr1:45477000-45478800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr1:45477000-45478800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:45477000-45479000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr1:45477000-45479000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr1:45477000-45479000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr1:45477000-45479000	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr1:45477000-45479000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr1:45477000-45479000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:45477000-45479000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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