Variant report

Variant	rs7252130
Chromosome Location	chr19:18633436-18633437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr19:18631023-18633653	H1-hESC	embryonic stem cell:	n/a	chr19:18632620-18632634 chr19:18632173-18632184 chr19:18632498-18632509 chr19:18632969-18632982 chr19:18632300-18632313
2	RELA	chr19:18632619-18633617	GM18951	blood:	n/a	n/a
3	MAZ	chr19:18630650-18633965	IMR90	lung:	n/a	chr19:18633375-18633390 chr19:18633377-18633384 chr19:18633376-18633385 chr19:18631508-18631518
4	BACH1	chr19:18633213-18633532	K562	blood:	n/a	n/a
5	YY1	chr19:18632338-18633526	K562	blood:	n/a	chr19:18632437-18632451 chr19:18632382-18632391 chr19:18633393-18633407 chr19:18632855-18632875
6	MAFK	chr19:18632849-18633446	IMR90	lung:	n/a	chr19:18633235-18633245
7	STAT3	chr19:18632845-18633466	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr19:18633317-18633702	GM18505	blood:	n/a	n/a
9	STAT1	chr19:18632674-18633569	GM12878	blood:	n/a	n/a
10	MYC	chr19:18633343-18633479	MCF-7	breast:	n/a	chr19:18633375-18633390 chr19:18633377-18633384 chr19:18633375-18633385 chr19:18633376-18633385
11	RCOR1	chr19:18632691-18633743	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr19:18633415-18633670	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP1	chr19:18632700-18633859	GM12878	blood:	n/a	chr19:18633262-18633272 chr19:18632976-18632986 chr19:18633205-18633217 chr19:18633205-18633216 chr19:18633354-18633368 chr19:18633261-18633273 chr19:18633262-18633276 chr19:18633357-18633369 chr19:18633059-18633069 chr19:18633133-18633147 chr19:18633262-18633271 chr19:18633205-18633217 chr19:18633206-18633220 chr19:18633415-18633425 chr19:18633206-18633215 chr19:18633261-18633273 chr19:18632975-18632987 chr19:18633207-18633216 chr19:18633263-18633272 chr19:18633415-18633425 chr19:18633133-18633142 chr19:18633059-18633069 chr19:18633132-18633144 chr19:18633359-18633368 chr19:18632975-18632987 chr19:18633262-18633272 chr19:18633261-18633272 chr19:18633132-18633144 chr19:18633357-18633369 chr19:18633262-18633271 chr19:18632976-18632986
14	HA-E2F1	chr19:18632497-18633808	MCF-7	breast:	n/a	chr19:18633434-18633448 chr19:18632884-18632893 chr19:18632596-18632605 chr19:18633207-18633216 chr19:18633202-18633212
15	ELK1	chr19:18632778-18633518	Hela-S3	cervix:	n/a	n/a
16	ARID3A	chr19:18632943-18633665	K562	blood:	n/a	n/a
17	USF2	chr19:18633096-18633635	Hela-S3	cervix:	n/a	chr19:18633397-18633413
18	POLR2A	chr19:18633316-18633585	GM12878	blood:	n/a	n/a
19	YY1	chr19:18633350-18633903	ECC-1	luminal epithelium:	n/a	chr19:18633393-18633407
20	NRF1	chr19:18632677-18634073	SK-N-SH	brain:	n/a	chr19:18632884-18632893 chr19:18633402-18633411 chr19:18632882-18632891
21	POLR2A	chr19:18632534-18633705	PBDE	blood:	n/a	n/a
22	FOXP2	chr19:18632654-18633584	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr19:18633347-18633795	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:18632514-18633739	HL-60	blood:	n/a	n/a
25	MYC	chr19:18632643-18633908	A549	lung:	n/a	chr19:18633375-18633390 chr19:18633377-18633384 chr19:18633375-18633385 chr19:18633376-18633385
26	POLR2A	chr19:18632386-18633783	Hela-S3	cervix:	n/a	n/a
27	MTA3	chr19:18633273-18633801	GM12878	blood:	n/a	n/a
28	STAT5A	chr19:18632966-18633537	K562	blood:	n/a	n/a
29	USF1	chr19:18633273-18633518	GM12878	blood:	n/a	chr19:18633397-18633413
30	MYC	chr19:18633286-18633473	K562	blood:	n/a	chr19:18633375-18633390 chr19:18633377-18633384 chr19:18633375-18633385 chr19:18633376-18633385
31	TBP	chr19:18632649-18633711	HepG2	liver:	n/a	n/a
32	SP1	chr19:18632709-18633645	K562	blood:	n/a	chr19:18633262-18633272 chr19:18632976-18632986 chr19:18633205-18633217 chr19:18633205-18633216 chr19:18633354-18633368 chr19:18633261-18633273 chr19:18633262-18633276 chr19:18633357-18633369 chr19:18633059-18633069 chr19:18633133-18633147 chr19:18633262-18633271 chr19:18633205-18633217 chr19:18633206-18633220 chr19:18633415-18633425 chr19:18633206-18633215 chr19:18633261-18633273 chr19:18632975-18632987 chr19:18633207-18633216 chr19:18633263-18633272 chr19:18633415-18633425 chr19:18633133-18633142 chr19:18633059-18633069 chr19:18633132-18633144 chr19:18633359-18633368 chr19:18632975-18632987 chr19:18633262-18633272 chr19:18633261-18633272 chr19:18633132-18633144 chr19:18633357-18633369 chr19:18633262-18633271 chr19:18632976-18632986
33	POLR2A	chr19:18633330-18633643	HepG2	liver:	n/a	n/a
34	KAP1	chr19:18633110-18633807	HEK293	kidney:	n/a	n/a
35	CTCF	chr19:18633400-18633550	HEEpiC	esophagus:	n/a	chr19:18633521-18633542
36	CHD2	chr19:18632710-18633617	GM12878	blood:	n/a	n/a
37	USF1	chr19:18633233-18633509	A549	lung:	n/a	chr19:18633397-18633413
38	HMGN3	chr19:18632401-18633540	K562	blood:	n/a	chr19:18633233-18633242 chr19:18633236-18633245
39	POLR2A	chr19:18633292-18633752	U87	brain:	n/a	n/a
40	POLR2A	chr19:18633241-18633638	PFSK-1	brain:	n/a	n/a
41	FOXA2	chr19:18633205-18633542	HepG2	liver:	n/a	n/a
42	POLR2A	chr19:18633369-18633696	ProgFib	skin:	n/a	n/a
43	RFX5	chr19:18632285-18633931	IMR90	lung:	n/a	n/a
44	POLR2A	chr19:18633135-18633709	HCT-116	colon:	n/a	n/a
45	BHLHE40	chr19:18632877-18633752	GM12878	blood:	n/a	chr19:18633397-18633413
46	MYBL2	chr19:18632644-18633786	HepG2	liver:	n/a	n/a
47	POLR2A	chr19:18633317-18633671	GM12892	blood:	n/a	n/a
48	POLR2A	chr19:18633363-18633715	HepG2	liver:	n/a	n/a
49	CREB1	chr19:18632611-18633684	H1-hESC	embryonic stem cell:	n/a	n/a
50	TEAD4	chr19:18633251-18633775	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18633401-18633451	AG04450	lung:	fetal
2	chr19:18633401-18633451	Caco-2	colon:	n/a
3	chr19:18633401-18633451	Hepatocyte	liver:	n/a
4	chr19:18633401-18633451	NB4	blood:	n/a
5	chr19:18633401-18633451	SK-N-SH	brain:	n/a
6	chr19:18633401-18633451	CMK	blood:	n/a
7	chr19:18633401-18633451	SKMC	muscle:	n/a
8	chr19:18633401-18633451	SAEC	small airway:	n/a
9	chr19:18633401-18633451	HRCEpiC	kidney:	n/a
10	chr19:18633401-18633451	HCPEpiC	choroid plexus:	n/a
11	chr19:18633401-18633451	BE2_C	brain:	n/a
12	chr19:18633401-18633451	HCF	heart:	n/a
13	chr19:18633401-18633451	GM19239	blood:	n/a
14	chr19:18633401-18633451	AG09319	gingival:	n/a
15	chr19:18633401-18633451	HCT-116	colon:	n/a
16	chr19:18633401-18633451	PFSK-1	brain:	n/a
17	chr19:18633401-18633451	AG09309	skin:	n/a
18	chr19:18633401-18633451	NH-A	brain:	n/a
19	chr19:18633401-18633451	HEEpiC	esophagus:	n/a
20	chr19:18633401-18633451	NHBE	bronchial:	n/a
21	chr19:18633401-18633451	A549	lung:	n/a
22	chr19:18633401-18633451	MCF-7	breast:	n/a
23	chr19:18633401-18633451	AG04449	skin:	fetal
24	chr19:18633401-18633451	ProgFib	skin:	n/a
25	chr19:18633401-18633451	PANC-1	pancreas:	n/a
26	chr19:18633401-18633451	HUVEC	blood vessel:	n/a
27	chr19:18633401-18633451	Jurkat	blood:	n/a
28	chr19:18633401-18633451	LNCaP	prostate:	n/a
29	chr19:18633401-18633451	GM12891	blood:	n/a
30	chr19:18633401-18633451	ovcar-3	ovarian:	n/a
31	chr19:18633401-18633451	HCM	heart:	n/a
32	chr19:18633401-18633451	HIPEpiC	eye:	n/a
33	chr19:18633401-18633451	H1-hESC	embryonic stem cell:	embryo
34	chr19:18633401-18633451	PrEC	prostate:	n/a
35	chr19:18633401-18633451	HAEpiC	amniotic membrane:	n/a
36	chr19:18633401-18633451	HMEC	breast:	n/a
37	chr19:18633401-18633451	AG10803	skin:	n/a
38	chr19:18633401-18633451	K562	blood:	n/a
39	chr19:18633401-18633451	MCF10A-Er-Src	breast:	n/a
40	chr19:18633401-18633451	GM12892	blood:	n/a
41	chr19:18633401-18633451	RPTEC	kidney:	n/a
42	chr19:18633401-18633451	GM06990	blood:	n/a
43	chr19:18633401-18633451	IMR90	lung:	fetal
44	chr19:18633401-18633451	HPAEpiC	pulmonary alveolar:	n/a
45	chr19:18633401-18633451	AoSMC	blood vessel:	n/a
46	chr19:18633401-18633451	SK-N-MC	brain:	n/a
47	chr19:18633401-18633451	HRE	kidney:	n/a
48	chr19:18633401-18633451	HepG2	liver:	n/a
49	chr19:18633401-18633451	U87	brain:	n/a
50	chr19:18633401-18633451	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18629832..18635572-chr19:18680910..18686315,11	K562	blood:
2	chr12:120729232..120730736-chr19:18631698..18634072,2	MCF-7	breast:
3	chr19:18540459..18542781-chr19:18632920..18634658,2	K562	blood:
4	chr19:18632726..18634686-chr19:18649463..18652079,3	MCF-7	breast:
5	chr19:18631688..18633803-chr19:18698894..18701519,3	MCF-7	breast:
6	chr19:18630875..18635401-chr19:18651200..18655863,9	MCF-7	breast:
7	chr19:18629748..18634724-chr19:18652806..18658264,15	K562	blood:
8	chr19:18630919..18637145-chr19:18698949..18704438,10	K562	blood:
9	chr19:18629832..18634516-chr19:18680910..18685097,11	K562	blood:
10	chr19:18633212..18634980-chr19:18648549..18650137,2	K562	blood:
11	chr19:18629917..18634196-chr19:18652150..18655589,5	MCF-7	breast:
12	chr19:18392155..18393766-chr19:18633090..18634763,2	K562	blood:
13	chr19:18629959..18634840-chr19:18652830..18656407,13	K562	blood:
14	chr19:18628801..18634367-chr19:18680492..18684131,12	MCF-7	breast:
15	chr19:18546603..18548898-chr19:18631485..18634393,2	MCF-7	breast:
16	chr15:81293184..81294156-chr19:18632711..18633566,2	Hela-S3	cervix:
17	chr19:18530114..18532262-chr19:18631255..18634040,2	MCF-7	breast:
18	chr19:18631032..18633728-chr19:18697675..18701681,7	MCF-7	breast:
19	chr19:18633341..18635579-chr19:18650519..18652255,2	K562	blood:
20	chr19:18630485..18634839-chr19:18666846..18671916,7	MCF-7	breast:
21	chr19:18629422..18634718-chr19:18699285..18702887,8	K562	blood:
22	chr19:18632022..18634941-chr19:18640789..18642587,3	K562	blood:
23	chr19:18631257..18635225-chr19:18680941..18684038,5	MCF-7	breast:
24	chr19:18392266..18394628-chr19:18631659..18634590,3	K562	blood:

Variant related genes	Relation type
ELL	TF binding region
ELL	CpG island
ENSG00000006015	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000268938	Chromatin interaction
ENSG00000140406	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000105701	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000130522	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10402322	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10409346	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10409408	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10410797	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10413922	0.84[EUR][1000 genomes]
rs10416993	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10418331	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10418554	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10420384	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10423802	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10426768	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1045631	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11086110	0.81[EUR][1000 genomes]
rs11668704	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11670392	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11672385	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11879757	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12980726	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12982295	0.81[EUR][1000 genomes]
rs12983263	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469412	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1469413	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1971093	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2013069	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2162797	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2303692	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28534973	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2891676	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34213500	0.81[EUR][1000 genomes]
rs35004712	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35742476	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4006662	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4303657	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4580317	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808135	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808802	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808803	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808805	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808806	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808807	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808808	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808811	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808812	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808813	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55715336	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57923655	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6512268	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6512269	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6512270	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6512271	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7246788	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7247540	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7249760	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7251232	0.85[EUR][1000 genomes]
rs7252185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7255936	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7256530	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7258891	0.81[EUR][1000 genomes]
rs7259135	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7507218	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8100343	0.81[EUR][1000 genomes]
rs8102717	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8104247	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8106068	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8106332	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8111397	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8111582	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8111824	0.81[EUR][1000 genomes]
rs8112372	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8112859	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs888668	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs888669	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
5	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv1055794	chr19:18611545-18676933	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription 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	60 gene(s)	inside rSNPs	diseases
11	nsv911283	chr19:18626732-18689830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7252130	SSBP4	Cis_1M	lymphoblastoid	RTeQTL
rs7252130	LOC646044///SSBP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18630000-18633600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr19:18630800-18633800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:18630800-18633800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr19:18631000-18633600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr19:18631000-18633800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:18631000-18634000	Active TSS	GM12878-XiMat	blood
7	chr19:18631200-18633600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr19:18631200-18633600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr19:18631200-18633600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:18631200-18633600	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr19:18631200-18633600	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr19:18631200-18633600	Active TSS	Brain Anterior Caudate	brain
13	chr19:18631200-18633600	Active TSS	Fetal Kidney	kidney
14	chr19:18631200-18633600	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr19:18631200-18633600	Active TSS	K562	blood
16	chr19:18631200-18633600	Active TSS	NHLF	lung
17	chr19:18631200-18633800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr19:18631200-18633800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr19:18631200-18633800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:18631200-18633800	Active TSS	Brain Angular Gyrus	brain
21	chr19:18631200-18633800	Active TSS	A549	lung
22	chr19:18631200-18633800	Active TSS	NHDF-Ad	bronchial
23	chr19:18631200-18634000	Active TSS	Duodenum Mucosa	Duodenum
24	chr19:18631400-18633600	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr19:18631400-18633600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:18631400-18633600	Active TSS	Muscle Satellite Cultured Cells	--
27	chr19:18631400-18633600	Active TSS	Brain Cingulate Gyrus	brain
28	chr19:18631400-18633600	Active TSS	Colon Smooth Muscle	Colon
29	chr19:18631400-18633600	Active TSS	HSMM	muscle
30	chr19:18631400-18633600	Active TSS	HSMMtube	muscle
31	chr19:18631400-18633600	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr19:18631400-18633800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:18631400-18633800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:18631400-18633800	Active TSS	Fetal Intestine Large	intestine
35	chr19:18631400-18633800	Active TSS	HMEC	breast
36	chr19:18631400-18633800	Active TSS	HUVEC	blood vessel
37	chr19:18631400-18633800	Active TSS	Osteobl	bone
38	chr19:18631400-18634000	Active TSS	Fetal Lung	lung
39	chr19:18631800-18633600	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr19:18631800-18633800	Active TSS	NH-A	brain
41	chr19:18632000-18633600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr19:18632000-18633800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:18632000-18633800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:18632000-18633800	Active TSS	Brain Hippocampus Middle	brain
45	chr19:18632000-18633800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:18632000-18633800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr19:18632200-18633600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:18632200-18633600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:18632200-18633600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr19:18632200-18633600	Active TSS	Fetal Stomach	stomach

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