Variant report

Variant	rs4855839
Chromosome Location	chr3:49507847-49507848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:292)
CpG islands
(count:61)
Chromatin interactive
region (count:22)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:49506252-49509681	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr3:49507204-49508280	NB4	blood:	n/a	n/a
3	POLR2A	chr3:49506818-49508493	HUVEC	blood vessel:	n/a	n/a
4	RUNX3	chr3:49506880-49508289	GM12878	blood:	n/a	n/a
5	YY1	chr3:49507234-49508155	GM12891	blood:	n/a	chr3:49508131-49508145 chr3:49507664-49507678 chr3:49507592-49507606 chr3:49507665-49507679
6	POLR2A	chr3:49507641-49508255	GM12891	blood:	n/a	n/a
7	ZMIZ1	chr3:49507791-49508258	K562	blood:	n/a	n/a
8	YY1	chr3:49507140-49508274	GM12878	blood:	n/a	chr3:49508131-49508145 chr3:49507664-49507678 chr3:49507592-49507606 chr3:49507665-49507679
9	MAX	chr3:49506483-49508246	SK-N-SH	brain:	n/a	chr3:49507013-49507023
10	MXI1	chr3:49507075-49508289	HepG2	liver:	n/a	n/a
11	MAX	chr3:49506406-49508265	A549	lung:	n/a	chr3:49507013-49507023
12	POLR2A	chr3:49507166-49508289	GM10847	blood:	n/a	n/a
13	TAF1	chr3:49507799-49508130	GM12891	blood:	n/a	n/a
14	POLR2A	chr3:49506789-49508427	HepG2	liver:	n/a	n/a
15	EBF1	chr3:49507530-49508187	GM12878	blood:	n/a	n/a
16	REST	chr3:49507833-49508205	SK-N-SH	brain:	n/a	n/a
17	TAF7	chr3:49507562-49508006	H1-hESC	embryonic stem cell:	n/a	n/a
18	TBP	chr3:49506853-49508278	K562	blood:	n/a	n/a
19	POLR2A	chr3:49506874-49508282	HUVEC	blood vessel:	n/a	n/a
20	MAX	chr3:49507092-49508305	NB4	blood:	n/a	n/a
21	TAF1	chr3:49507827-49508182	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr3:49507160-49508256	HepG2	liver:	n/a	n/a
23	KAP1	chr3:49507638-49508245	U2OS	brain:	n/a	n/a
24	POLR2A	chr3:49506564-49508420	K562	blood:	n/a	n/a
25	FOXM1	chr3:49507614-49508355	GM12878	blood:	n/a	n/a
26	MYC	chr3:49507003-49508275	K562	blood:	n/a	chr3:49507013-49507023
27	RCOR1	chr3:49506855-49508336	K562	blood:	n/a	n/a
28	POLR2A	chr3:49507154-49508220	HepG2	liver:	n/a	n/a
29	POLR2A	chr3:49507588-49508469	HL-60	blood:	n/a	n/a
30	RFX5	chr3:49506541-49508416	Hela-S3	cervix:	n/a	chr3:49507491-49507500 chr3:49507276-49507285 chr3:49507650-49507664 chr3:49507647-49507662 chr3:49507651-49507660 chr3:49507649-49507665 chr3:49507648-49507662
31	POLR2A	chr3:49506849-49508242	HCT-116	colon:	n/a	n/a
32	POLR2A	chr3:49506955-49508272	GM12878	blood:	n/a	n/a
33	POLR2A	chr3:49506948-49508349	HUVEC	blood vessel:	n/a	n/a
34	JUND	chr3:49506874-49508325	K562	blood:	n/a	chr3:49507492-49507501 chr3:49507236-49507245
35	MAX	chr3:49506940-49508329	H1-hESC	embryonic stem cell:	n/a	chr3:49507013-49507023
36	GABPA	chr3:49507811-49508229	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr3:49506893-49508343	GM12878	blood:	n/a	n/a
38	POLR2A	chr3:49506940-49508356	MCF10A-Er-Src	breast:	n/a	n/a
39	TCF3	chr3:49507469-49508308	GM12878	blood:	n/a	chr3:49507945-49507954 chr3:49507942-49507957 chr3:49507942-49507956 chr3:49507946-49507959
40	MYC	chr3:49507778-49508012	MCF-7	breast:	n/a	n/a
41	EBF1	chr3:49507172-49508077	GM12878	blood:	n/a	n/a
42	RFX5	chr3:49507177-49508018	HepG2	liver:	n/a	chr3:49507491-49507500 chr3:49507276-49507285 chr3:49507650-49507664 chr3:49507647-49507662 chr3:49507651-49507660 chr3:49507649-49507665 chr3:49507648-49507662
43	CTCF	chr3:49507740-49507890	GM12873	blood:	n/a	n/a
44	POLR2A	chr3:49507199-49508287	HEK293	kidney:	n/a	n/a
45	POLR2A	chr3:49507202-49508179	A549	lung:	n/a	n/a
46	CTBP2	chr3:49507721-49508261	H1-hESC	embryonic stem cell:	n/a	n/a
47	RELA	chr3:49506956-49508115	GM18951	blood:	n/a	n/a
48	USF1	chr3:49507481-49508168	ECC-1	luminal epithelium:	n/a	chr3:49507920-49507936 chr3:49507598-49507614
49	SIN3A	chr3:49506507-49508607	H1-hESC	embryonic stem cell:	n/a	chr3:49507507-49507520 chr3:49506954-49506963 chr3:49507546-49507557
50	POLR2A	chr3:49506441-49508367	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:49507844-49507894	HMEC	breast:	n/a
2	chr3:49507844-49507894	HRCEpiC	kidney:	n/a
3	chr3:49507844-49507894	HCM	heart:	n/a
4	chr3:49507844-49507894	PANC-1	pancreas:	n/a
5	chr3:49507844-49507894	AG10803	skin:	n/a
6	chr3:49507844-49507894	GM12878	blood:	n/a
7	chr3:49507844-49507894	AG04450	lung:	fetal
8	chr3:49507844-49507894	Jurkat	blood:	n/a
9	chr3:49507844-49507894	ovcar-3	ovarian:	n/a
10	chr3:49507844-49507894	ECC-1	luminal epithelium:	n/a
11	chr3:49507844-49507894	Hela-S3	cervix:	n/a
12	chr3:49507844-49507894	AoSMC	blood vessel:	n/a
13	chr3:49507844-49507894	ProgFib	skin:	n/a
14	chr3:49507844-49507894	GM12892	blood:	n/a
15	chr3:49507844-49507894	AG04449	skin:	fetal
16	chr3:49507844-49507894	BJ	skin:	n/a
17	chr3:49507844-49507894	T-47D	breast:	n/a
18	chr3:49507844-49507894	SK-N-MC	brain:	n/a
19	chr3:49507844-49507894	MCF-7	breast:	n/a
20	chr3:49507844-49507894	AG09319	gingival:	n/a
21	chr3:49507844-49507894	NHDF-neo	bronchial:	n/a
22	chr3:49507844-49507894	A549	lung:	n/a
23	chr3:49507844-49507894	U87	brain:	n/a
24	chr3:49507844-49507894	GM12891	blood:	n/a
25	chr3:49507844-49507894	HUVEC	blood vessel:	n/a
26	chr3:49507844-49507894	HNPCEpiC	eye:	n/a
27	chr3:49507844-49507894	AG09309	skin:	n/a
28	chr3:49507844-49507894	HCT-116	colon:	n/a
29	chr3:49507844-49507894	NHBE	bronchial:	n/a
30	chr3:49507844-49507894	HCF	heart:	n/a
31	chr3:49507844-49507894	HepG2	liver:	n/a
32	chr3:49507844-49507894	PFSK-1	brain:	n/a
33	chr3:49507844-49507894	HRE	kidney:	n/a
34	chr3:49507844-49507894	PrEC	prostate:	n/a
35	chr3:49507844-49507894	BE2_C	brain:	n/a
36	chr3:49507844-49507894	GM19239	blood:	n/a
37	chr3:49507844-49507894	HL-60	blood:	n/a
38	chr3:49507844-49507894	NH-A	brain:	n/a
39	chr3:49507844-49507894	HEK293	kidney:	embryo
40	chr3:49507844-49507894	HRPEpiC	eye:	n/a
41	chr3:49507844-49507894	Hepatocyte	liver:	n/a
42	chr3:49507844-49507894	HEEpiC	esophagus:	n/a
43	chr3:49507844-49507894	IMR90	lung:	fetal
44	chr3:49507844-49507894	SAEC	small airway:	n/a
45	chr3:49507844-49507894	NT2-D1	testis:	n/a
46	chr3:49507844-49507894	HIPEpiC	eye:	n/a
47	chr3:49507844-49507894	H1-hESC	embryonic stem cell:	embryo
48	chr3:49507844-49507894	NB4	blood:	n/a
49	chr3:49507844-49507894	SK-N-SH	brain:	n/a
50	chr3:49507844-49507894	MCF10A-Er-Src	breast:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49506494..49510419-chr3:49709515..49713189,4	MCF-7	breast:
2	chr3:49507792..49509395-chr3:49538517..49540372,2	MCF-7	breast:
3	chr3:49506988..49509379-chr3:49529279..49532110,2	MCF-7	breast:
4	chr3:49506481..49509131-chr3:49546764..49549304,2	MCF-7	breast:
5	chr3:49447402..49451449-chr3:49505916..49509646,7	K562	blood:
6	chr3:49506444..49509653-chr3:49710909..49714606,3	K562	blood:
7	chr3:49056423..49060378-chr3:49506507..49510634,4	K562	blood:
8	chr3:49447402..49452044-chr3:49506038..49509646,9	K562	blood:
9	chr3:49505441..49508480-chr3:49710122..49713377,5	MCF-7	breast:
10	chr16:30536975..30539864-chr3:49506980..49509217,2	MCF-7	breast:
11	chr3:49501861..49505109-chr3:49505439..49508808,5	K562	blood:
12	chr3:49448236..49450769-chr3:49505936..49509558,3	MCF-7	breast:
13	chr3:49448736..49451146-chr3:49507489..49509395,2	MCF-7	breast:
14	chr3:49460325..49461920-chr3:49506460..49509220,2	MCF-7	breast:
15	chr3:49507518..49508282-chr5:43515171..43515703,2	Hela-S3	cervix:
16	chr3:49503012..49504721-chr3:49506646..49509185,2	MCF-7	breast:
17	chr16:68056858..68057446-chr3:49507615..49508193,2	NB4	blood:
18	chr3:49507807..49509484-chr3:49555798..49559257,3	MCF-7	breast:
19	chr3:49507449..49508233-chr9:131940290..131940960,2	Hela-S3	cervix:
20	chr3:49376524..49378988-chr3:49507303..49509521,2	MCF-7	breast:
21	chr3:49065352..49067075-chr3:49506284..49508355,2	K562	blood:
22	chr3:49455358..49458192-chr3:49507443..49509538,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAG1-1	chr3:49507787-49507866	NONHSAT089700
2	lnc-DAG1-1	chr3:49507735-49507866	NONHSAT089698
3	lnc-DAG1-1	chr3:49507722-49507866	NONHSAT089697

No data

Variant related genes	Relation type
RNA5SP130	TF binding region
RNA5SP130	CpG island
ENSG00000199032	Chromatin interaction
ENSG00000167264	Chromatin interaction
ENSG00000201301	Chromatin interaction
ENSG00000207605	Chromatin interaction
ENSG00000114316	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000272434	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000145020	Chromatin interaction
ENSG00000145022	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000178035	Chromatin interaction
ENSG00000173402	Chromatin interaction
ENSG00000164062	Chromatin interaction
ENSG00000188483	Chromatin interaction
ENSG00000067560	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000235261	Chromatin interaction
ENSG00000178149	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1050088	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes]
rs10640	0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs10865955	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11130192	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11130193	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11130194	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11130196	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11130199	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11130202	0.85[EUR][1000 genomes]
rs11130206	0.82[EUR][1000 genomes]
rs11706370	1.00[JPT][hapmap]
rs11709525	0.86[JPT][hapmap]
rs11711485	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs11715915	0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs11718165	0.82[GIH][hapmap]
rs11720264	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11919311	0.85[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs11922013	1.00[JPT][hapmap]
rs12488065	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12489092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13078949	0.88[CHB][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap]
rs13096760	0.84[EUR][1000 genomes]
rs1464566	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1464567	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[EUR][1000 genomes]
rs1464568	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes]
rs1568661	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1568662	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17080528	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs17650792	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs1800668	1.00[JPT][hapmap]
rs1801143	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs1826347	0.85[MEX][hapmap]
rs1873625	0.85[GIH][hapmap];0.86[JPT][hapmap]
rs1873626	0.86[JPT][hapmap]
rs1987628	1.00[JPT][hapmap]
rs2131104	0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap]
rs2131109	0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap]
rs2172252	0.86[JPT][hapmap]
rs2312461	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2329020	0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs34762726	0.82[GIH][hapmap];0.86[JPT][hapmap]
rs35701831	1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3811697	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs3811699	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs3870337	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3870338	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3877784	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3924462	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3924463	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4241406	0.83[EUR][1000 genomes]
rs4241408	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4283605	0.82[GIH][hapmap];0.86[JPT][hapmap]
rs4459909	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4625	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs4855836	0.83[EUR][1000 genomes]
rs4855842	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4855843	0.82[EUR][1000 genomes]
rs4855852	0.85[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs4855855	0.84[EUR][1000 genomes]
rs4855859	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4855861	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4855864	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4855866	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4855873	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4855877	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs4855884	0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap]
rs4955412	0.80[EUR][1000 genomes]
rs55957735	0.83[EUR][1000 genomes]
rs59152804	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62261185	0.86[EUR][1000 genomes]
rs6446272	0.86[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs6766131	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs6770670	0.86[JPT][hapmap]
rs6773518	0.82[EUR][1000 genomes]
rs6779524	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs6782577	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6784820	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes]
rs6792911	0.81[EUR][1000 genomes]
rs6797765	0.81[EUR][1000 genomes]
rs6803222	0.85[GIH][hapmap];0.86[JPT][hapmap]
rs6997	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs7371895	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7622302	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs7631908	0.82[EUR][1000 genomes]
rs7633271	1.00[JPT][hapmap]
rs7637665	0.83[EUR][1000 genomes]
rs7637999	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7643586	0.83[EUR][1000 genomes]
rs7643845	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7645445	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7646366	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs885592	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9812791	0.82[GIH][hapmap];0.86[JPT][hapmap]
rs9814873	0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs9827021	1.00[JPT][hapmap]
rs9827708	0.85[GIH][hapmap];0.86[JPT][hapmap]
rs9837027	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs9837341	0.86[JPT][hapmap]
rs9841110	1.00[JPT][hapmap]
rs9853683	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs9858280	0.86[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs9858542	0.82[GIH][hapmap]
rs9875617	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs9882740	0.82[GIH][hapmap];0.86[JPT][hapmap]

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	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3420339	chr3:49505548-49510046	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3439400	chr3:49506373-49508921	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3380038	chr3:49506748-49508796	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4855839	WDR6	cis	Muscle Skeletal	GTEx
rs4855839	AMT	cis	Thyroid	GTEx
rs4855839	WDR6	cis	Whole Blood	GTEx
rs4855839	WDR6	cis	lung	GTEx
rs4855839	WDR6	cis	Adipose Subcutaneous	GTEx
rs4855839	WDR6	cis	Artery Tibial	GTEx
rs4855839	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs4855839	WDR6	cis	Nerve Tibial	GTEx
rs4855839	RBM6	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49506400-49509200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr3:49506400-49509600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr3:49506800-49508400	Active TSS	Brain Angular Gyrus	brain
4	chr3:49506800-49508600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr3:49506800-49508800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:49506800-49509200	Active TSS	Psoas Muscle	Psoas
7	chr3:49507000-49508600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:49507000-49508600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:49507000-49508600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr3:49507000-49508600	Active TSS	Fetal Kidney	kidney
11	chr3:49507000-49508800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr3:49507000-49508800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:49507000-49508800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr3:49507000-49508800	Active TSS	Lung	lung
15	chr3:49507000-49508800	Active TSS	Ovary	ovary
16	chr3:49507000-49509000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr3:49507000-49509000	Active TSS	Aorta	Aorta
18	chr3:49507000-49509000	Active TSS	A549	lung
19	chr3:49507200-49508200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:49507200-49508200	Active TSS	Brain Anterior Caudate	brain
21	chr3:49507200-49508200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr3:49507200-49508400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:49507200-49508400	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr3:49507200-49508400	Active TSS	Brain Cingulate Gyrus	brain
25	chr3:49507200-49508400	Active TSS	Brain Germinal Matrix	brain
26	chr3:49507200-49508400	Active TSS	Brain Hippocampus Middle	brain
27	chr3:49507200-49508400	Active TSS	Fetal Lung	lung
28	chr3:49507200-49508400	Active TSS	Placenta Amnion	Placenta Amnion
29	chr3:49507200-49508400	Active TSS	Spleen	Spleen
30	chr3:49507200-49508600	Active TSS	H1 Cell Line	embryonic stem cell
31	chr3:49507200-49508600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:49507200-49508600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:49507200-49508600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr3:49507200-49508600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:49507200-49508600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:49507200-49508600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr3:49507200-49508600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:49507200-49508600	Active TSS	Brain Substantia Nigra	brain
39	chr3:49507200-49508600	Active TSS	Colon Smooth Muscle	Colon
40	chr3:49507200-49508600	Active TSS	Duodenum Mucosa	Duodenum
41	chr3:49507200-49508600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr3:49507200-49508600	Active TSS	Fetal Brain Female	brain
43	chr3:49507200-49508600	Active TSS	Fetal Intestine Large	intestine
44	chr3:49507200-49508600	Active TSS	Fetal Stomach	stomach
45	chr3:49507200-49508600	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr3:49507200-49508600	Active TSS	GM12878-XiMat	blood
47	chr3:49507200-49508800	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr3:49507200-49508800	Active TSS	Esophagus	oesophagus
49	chr3:49507200-49508800	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr3:49507200-49508800	Active TSS	Small Intestine	intestine

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