Variant report

Variant	rs2919431
Chromosome Location	chr16:30709367-30709368
allele	C/T
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	MYC	chr16:30709355-30709482	Hela-S3	cervix:	n/a	chr16:30709439-30709449
2	MYC	chr16:30709232-30710916	K562	blood:	n/a	chr16:30709729-30709739 chr16:30710135-30710145 chr16:30710431-30710441 chr16:30709439-30709449
3	SIN3AK20	chr16:30709103-30709561	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr16:30709219-30709852	H1-hESC	embryonic stem cell:	n/a	chr16:30709461-30709470
5	POLR2A	chr16:30709175-30710823	U87	brain:	n/a	n/a
6	SIN3AK20	chr16:30709280-30709818	A549	lung:	n/a	n/a
7	MAX	chr16:30709238-30710884	K562	blood:	n/a	chr16:30709729-30709739 chr16:30710135-30710145 chr16:30710431-30710441 chr16:30709439-30709449
8	YY1	chr16:30709128-30710058	HepG2	liver:	n/a	chr16:30709545-30709567 chr16:30709542-30709562 chr16:30709548-30709556 chr16:30709571-30709582 chr16:30709791-30709811 chr16:30709798-30709806 chr16:30709545-30709555 chr16:30709799-30709809 chr16:30709350-30709364 chr16:30709541-30709550 chr16:30709744-30709755
9	POLR2A	chr16:30709137-30710714	HepG2	liver:	n/a	n/a
10	YY1	chr16:30709027-30710769	K562	blood:	n/a	chr16:30709545-30709567 chr16:30709542-30709562 chr16:30709548-30709556 chr16:30709571-30709582 chr16:30709791-30709811 chr16:30709798-30709806 chr16:30710339-30710353 chr16:30710433-30710442 chr16:30709545-30709555 chr16:30709799-30709809 chr16:30709350-30709364 chr16:30709541-30709550 chr16:30709744-30709755
11	RXRA	chr16:30709266-30709604	GM12878	blood:	n/a	n/a
12	SIN3AK20	chr16:30709222-30709828	HepG2	liver:	n/a	n/a
13	SRF	chr16:30709061-30710033	MCF-7	breast:	n/a	n/a
14	FOS	chr16:30709352-30709517	MCF10A-Er-Src	breast:	n/a	n/a
15	NR3C1	chr16:30709297-30709685	A549	lung:	n/a	chr16:30709545-30709559 chr16:30709430-30709443 chr16:30709461-30709470
16	MAZ	chr16:30708484-30711599	IMR90	lung:	n/a	chr16:30709729-30709739 chr16:30710135-30710145 chr16:30710431-30710441 chr16:30709439-30709449
17	MXI1	chr16:30708828-30711171	IMR90	lung:	n/a	n/a
18	ELK1	chr16:30709180-30710042	K562	blood:	n/a	n/a
19	REST	chr16:30709289-30709589	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr16:30709168-30711008	Hela-S3	cervix:	n/a	n/a
21	TBP	chr16:30709149-30710915	K562	blood:	n/a	n/a
22	ZMIZ1	chr16:30709291-30710659	K562	blood:	n/a	n/a
23	SMC3	chr16:30709295-30710658	Hela-S3	cervix:	n/a	chr16:30710202-30710209
24	UBTF	chr16:30709208-30709729	K562	blood:	n/a	n/a
25	CHD2	chr16:30709113-30710657	K562	blood:	n/a	chr16:30709461-30709470 chr16:30709865-30709875 chr16:30709332-30709339
26	MYC	chr16:30709236-30710841	Hela-S3	cervix:	n/a	chr16:30709729-30709739 chr16:30710135-30710145 chr16:30710431-30710441 chr16:30709439-30709449
27	SP4	chr16:30709235-30709925	H1-hESC	embryonic stem cell:	n/a	chr16:30709609-30709620
28	TAF1	chr16:30709291-30710765	A549	lung:	n/a	n/a
29	EGR1	chr16:30709314-30709821	GM12878	blood:	n/a	chr16:30709372-30709396
30	REST	chr16:30709299-30710933	A549	lung:	n/a	chr16:30709883-30709893
31	CTCF	chr16:30709303-30709657	K562	blood:	n/a	n/a
32	MAX	chr16:30709244-30710891	Hela-S3	cervix:	n/a	chr16:30709729-30709739 chr16:30710135-30710145 chr16:30710431-30710441 chr16:30709439-30709449
33	MAX	chr16:30709028-30711042	HCT-116	colon:	n/a	chr16:30709729-30709739 chr16:30710135-30710145 chr16:30710431-30710441 chr16:30709439-30709449
34	E2F4	chr16:30709367-30709690	GM12878	blood:	n/a	chr16:30709478-30709487 chr16:30709461-30709476 chr16:30709462-30709473
35	CTCF	chr16:30709276-30709543	Spleen_OC	spleen:	n/a	n/a
36	MAFK	chr16:30709200-30709750	HepG2	liver:	n/a	n/a
37	BRCA1	chr16:30709204-30709950	Hela-S3	cervix:	n/a	chr16:30709461-30709470
38	EP300	chr16:30709247-30709999	HepG2	liver:	n/a	chr16:30709980-30709996 chr16:30709478-30709487 chr16:30709910-30709926 chr16:30709540-30709549
39	CREB1	chr16:30709134-30710723	H1-hESC	embryonic stem cell:	n/a	n/a
40	SIX5	chr16:30708988-30710200	A549	lung:	n/a	chr16:30709375-30709384 chr16:30709069-30709085 chr16:30709069-30709085 chr16:30709373-30709382
41	POLR2A	chr16:30709172-30710794	K562	blood:	n/a	n/a
42	POLR2A	chr16:30709128-30710672	PBDE	blood:	n/a	n/a
43	TCF12	chr16:30709287-30709866	A549	lung:	n/a	n/a
44	POLR2A	chr16:30709293-30710549	GM10847	blood:	n/a	n/a
45	PML	chr16:30709132-30710921	K562	blood:	n/a	n/a
46	REST	chr16:30709197-30709781	A549	lung:	n/a	n/a
47	EGR1	chr16:30709261-30709956	ECC-1	luminal epithelium:	n/a	chr16:30709372-30709396 chr16:30709868-30709878 chr16:30709857-30709871
48	CHD1	chr16:30709317-30710663	GM12878	blood:	n/a	chr16:30709461-30709470 chr16:30709865-30709875 chr16:30709332-30709339
49	CHD1	chr16:30708781-30711645	IMR90	lung:	n/a	chr16:30709461-30709470 chr16:30709865-30709875 chr16:30709332-30709339
50	GABPA	chr16:30709183-30709714	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30709328-30709378	HCF	heart:	n/a
2	chr16:30709328-30709378	SK-N-SH_RA	brain:	n/a
3	chr16:30709328-30709378	CMK	blood:	n/a
4	chr16:30709328-30709378	Hepatocyte	liver:	n/a
5	chr16:30709328-30709378	HPAEpiC	pulmonary alveolar:	n/a
6	chr16:30709328-30709378	U87	brain:	n/a
7	chr16:30709328-30709378	HCT-116	colon:	n/a
8	chr16:30709328-30709378	GM06990	blood:	n/a
9	chr16:30709328-30709378	ECC-1	luminal epithelium:	n/a
10	chr16:30709328-30709378	RPTEC	kidney:	n/a
11	chr16:30709328-30709378	K562	blood:	n/a
12	chr16:30709328-30709378	HEK293	kidney:	embryo
13	chr16:30709328-30709378	HUVEC	blood vessel:	n/a
14	chr16:30709328-30709378	GM12891	blood:	n/a
15	chr16:30709328-30709378	BE2_C	brain:	n/a
16	chr16:30709328-30709378	HRPEpiC	eye:	n/a
17	chr16:30709328-30709378	PANC-1	pancreas:	n/a
18	chr16:30709328-30709378	LNCaP	prostate:	n/a
19	chr16:30709328-30709378	NHBE	bronchial:	n/a
20	chr16:30709328-30709378	H1-hESC	embryonic stem cell:	embryo
21	chr16:30709328-30709378	HCPEpiC	choroid plexus:	n/a
22	chr16:30709328-30709378	A549	lung:	n/a
23	chr16:30709328-30709378	ovcar-3	ovarian:	n/a
24	chr16:30709328-30709378	SAEC	small airway:	n/a
25	chr16:30709328-30709378	NH-A	brain:	n/a
26	chr16:30709328-30709378	MCF10A-Er-Src	breast:	n/a
27	chr16:30709328-30709378	AG09309	skin:	n/a
28	chr16:30709328-30709378	HEEpiC	esophagus:	n/a
29	chr16:30709328-30709378	NHDF-neo	bronchial:	n/a
30	chr16:30709328-30709378	ProgFib	skin:	n/a
31	chr16:30709328-30709378	Caco-2	colon:	n/a
32	chr16:30709328-30709378	SKMC	muscle:	n/a
33	chr16:30709328-30709378	HAEpiC	amniotic membrane:	n/a
34	chr16:30709328-30709378	HRE	kidney:	n/a
35	chr16:30709328-30709378	PFSK-1	brain:	n/a
36	chr16:30709328-30709378	AoSMC	blood vessel:	n/a
37	chr16:30709328-30709378	HMEC	breast:	n/a
38	chr16:30709328-30709378	GM12878	blood:	n/a
39	chr16:30709328-30709378	Hela-S3	cervix:	n/a
40	chr16:30709328-30709378	GM12892	blood:	n/a
41	chr16:30709328-30709378	HIPEpiC	eye:	n/a
42	chr16:30709328-30709378	HL-60	blood:	n/a
43	chr16:30709328-30709378	AG04450	lung:	fetal
44	chr16:30709328-30709378	IMR90	lung:	fetal
45	chr16:30709328-30709378	AG09319	gingival:	n/a
46	chr16:30709328-30709378	HNPCEpiC	eye:	n/a
47	chr16:30709328-30709378	SK-N-MC	brain:	n/a
48	chr16:30709328-30709378	HCM	heart:	n/a
49	chr16:30709328-30709378	BJ	skin:	n/a
50	chr16:30709328-30709378	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:29816495..29818373-chr16:30708327..30710774,2	K562	blood:
2	chr16:30708214..30710330-chr16:31190333..31193156,2	K562	blood:
3	chr16:30455606..30458021-chr16:30708271..30711860,5	K562	blood:
4	chr16:30709030..30710951-chr16:30959452..30961503,2	MCF-7	breast:
5	chr16:30667783..30674540-chr16:30707310..30714065,38	K562	blood:
6	chr16:30708299..30711208-chr16:30931702..30936734,5	MCF-7	breast:
7	chr16:30661889..30663821-chr16:30707860..30709367,2	K562	blood:
8	chr16:30369886..30371566-chr16:30709184..30711888,2	MCF-7	breast:
9	chr16:30197379..30199709-chr16:30708853..30710594,2	MCF-7	breast:
10	chr16:30439151..30441186-chr16:30708286..30710869,2	K562	blood:
11	chr16:30708426..30712348-chr16:30772033..30775384,7	MCF-7	breast:
12	chr16:30709031..30710824-chr16:31084721..31086312,2	MCF-7	breast:
13	chr16:30709313..30710215-chr18:32924158..32924743,2	Hela-S3	cervix:
14	chr16:30381749..30384813-chr16:30709284..30711839,3	MCF-7	breast:
15	chr16:30707963..30711732-chr16:30932569..30936139,6	K562	blood:
16	chr16:30709290..30710319-chr5:43483061..43484030,3	Hela-S3	cervix:
17	chr16:30123424..30125904-chr16:30709036..30711969,2	K562	blood:
18	chr16:30708449..30710196-chr16:31084025..31085788,2	MCF-7	breast:
19	chr16:30708929..30712034-chr16:30758251..30761730,4	K562	blood:
20	chr16:30194759..30196474-chr16:30708321..30710929,2	K562	blood:
21	chr16:30709356..30710125-chr6:7590409..7591242,2	Hela-S3	cervix:
22	chr16:30707422..30715768-chr16:30721242..30729414,24	MCF-7	breast:
23	chr16:30708356..30712729-chr16:30907440..30911095,7	K562	blood:
24	chr16:30428007..30431562-chr16:30708422..30711318,5	MCF-7	breast:
25	chr16:30708909..30711747-chr16:30932178..30935236,6	MCF-7	breast:
26	chr16:30707234..30713291-chr16:30747398..30755461,17	MCF-7	breast:
27	chr16:30661013..30665220-chr16:30708206..30710953,10	MCF-7	breast:
28	chr16:30077027..30079067-chr16:30707844..30710245,2	K562	blood:
29	chr16:30660833..30664856-chr16:30708365..30711306,8	MCF-7	breast:
30	chr16:30709290..30710189-chr3:25830936..25831867,2	Hela-S3	cervix:
31	chr16:30674544..30676988-chr16:30707710..30709714,2	K562	blood:
32	chr16:30707181..30712037-chr16:30757231..30762842,12	MCF-7	breast:
33	chr16:30074836..30077502-chr16:30708652..30710947,2	MCF-7	breast:
34	chr16:30708652..30711335-chr16:30903340..30907064,3	K562	blood:
35	chr16:30706444..30711338-chr16:30796616..30799537,5	MCF-7	breast:
36	chr16:30678341..30683972-chr16:30708353..30711640,7	K562	blood:
37	chr16:30678548..30685862-chr16:30707986..30712280,7	K562	blood:
38	chr16:30388749..30390462-chr16:30709346..30711383,3	MCF-7	breast:
39	chr16:30708652..30711178-chr16:30903340..30907064,5	K562	blood:
40	chr16:30708001..30712248-chr16:30758568..30761366,5	K562	blood:
41	chr16:30455713..30457850-chr16:30709023..30710927,2	K562	blood:
42	chr16:30707557..30712450-chr16:30785751..30791890,10	K562	blood:
43	chr16:30708679..30711292-chr16:30884287..30888063,3	MCF-7	breast:
44	chr16:30439952..30442707-chr16:30707783..30710834,3	MCF-7	breast:
45	chr16:30665738..30673826-chr16:30707321..30713630,33	K562	blood:
46	chr16:30665347..30684079-chr16:30697204..30714344,66	MCF-7	breast:
47	chr16:30707976..30709572-chr16:30772183..30773840,2	K562	blood:
48	chr16:30707849..30711301-chr16:30785397..30790684,8	K562	blood:
49	chr16:30708050..30711529-chr16:30932244..30936391,8	K562	blood:
50	chr16:30667507..30674392-chr16:30704170..30712522,40	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C16orf93-1	chr16:30709028-30709636	NONHSAT141802

Variant related genes	Relation type
SRCAP	TF binding region
SRCAP	CpG island
ENSG00000151093	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000199787	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000196118	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000206755	Chromatin interaction
ENSG00000102879	Chromatin interaction
ENSG00000222287	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000261416	Chromatin interaction
ENSG00000102886	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000262026	Chromatin interaction
ENSG00000168566	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000172466	Chromatin interaction
ENSG00000151092	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000103495	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10782000	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs11150594	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11150595	1.00[YRI][hapmap]
rs11648654	1.00[AMR][1000 genomes]
rs12596375	1.00[AMR][1000 genomes]
rs12596394	1.00[AMR][1000 genomes]
rs12598056	1.00[AMR][1000 genomes]
rs12931844	1.00[AMR][1000 genomes]
rs12933849	1.00[AMR][1000 genomes]
rs1530203	0.83[YRI][hapmap]
rs1550477	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs2053426	1.00[AMR][1000 genomes]
rs2099754	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2099755	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919430	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919432	0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972807	0.94[AFR][1000 genomes]
rs2972808	0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs2972809	0.81[YRI][hapmap];0.84[AFR][1000 genomes]
rs2972815	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4617878	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889488	1.00[AMR][1000 genomes]
rs4889494	1.00[AMR][1000 genomes]
rs4889500	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889501	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889503	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889504	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889505	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889508	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889509	1.00[YRI][hapmap]
rs4889510	1.00[AMR][1000 genomes]
rs4889528	1.00[AMR][1000 genomes]
rs55635617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56038936	1.00[AMR][1000 genomes]
rs56209507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57225118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57643871	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57877247	1.00[AMR][1000 genomes]
rs6565198	0.80[YRI][hapmap]
rs6565203	1.00[AMR][1000 genomes]
rs6565204	1.00[AMR][1000 genomes]
rs6565205	1.00[AMR][1000 genomes]
rs6565208	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs6565209	1.00[AMR][1000 genomes]
rs6565210	1.00[AMR][1000 genomes]
rs7185136	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7188077	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7193412	1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7195612	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536488	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045484	1.00[YRI][hapmap]
rs8045550	1.00[AMR][1000 genomes]
rs8045624	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8046609	1.00[AMR][1000 genomes]
rs8047743	1.00[AMR][1000 genomes]
rs8048656	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs8049589	1.00[AMR][1000 genomes]
rs8050578	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs8058475	1.00[AMR][1000 genomes]
rs893926	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs893927	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9921630	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9934046	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941201	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9941300	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
11	esv3372612	chr16:30709076-30711624	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2919431	PENK	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30707000-30709400	Weak transcription	Spleen	Spleen
2	chr16:30708600-30709400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr16:30708600-30709400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:30708600-30709400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr16:30708600-30709400	Flanking Active TSS	Dnd41	blood
6	chr16:30708600-30709600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr16:30708600-30711200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:30708800-30709400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:30708800-30709400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr16:30708800-30709400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr16:30708800-30709400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr16:30708800-30709400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr16:30708800-30709400	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr16:30708800-30709400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:30708800-30709400	Flanking Active TSS	Fetal Thymus	thymus
16	chr16:30708800-30709400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr16:30708800-30709400	Flanking Active TSS	HUVEC	blood vessel
18	chr16:30708800-30709400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr16:30708800-30710800	Active TSS	Brain Anterior Caudate	brain
20	chr16:30708800-30710800	Active TSS	Fetal Lung	lung
21	chr16:30708800-30711000	Active TSS	Fetal Kidney	kidney
22	chr16:30708800-30711200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:30708800-30711600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:30709000-30709400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:30709000-30709400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr16:30709000-30709400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:30709000-30709400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr16:30709000-30709400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr16:30709000-30709400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr16:30709000-30709400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr16:30709000-30709400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr16:30709000-30709400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr16:30709000-30709400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr16:30709000-30709400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr16:30709000-30709400	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr16:30709000-30709400	Active TSS	Fetal Brain Male	brain
37	chr16:30709000-30709400	Active TSS	Right Atrium	heart
38	chr16:30709000-30710400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr16:30709000-30710400	Active TSS	Fetal Muscle Leg	muscle
40	chr16:30709000-30710600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr16:30709000-30710600	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr16:30709000-30710600	Active TSS	Brain Hippocampus Middle	brain
43	chr16:30709000-30710600	Active TSS	Duodenum Mucosa	Duodenum
44	chr16:30709000-30710600	Active TSS	Fetal Brain Female	brain
45	chr16:30709000-30710600	Active TSS	Fetal Muscle Trunk	muscle
46	chr16:30709000-30710600	Active TSS	Fetal Stomach	stomach
47	chr16:30709000-30710800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:30709000-30710800	Active TSS	Brain Substantia Nigra	brain
49	chr16:30709000-30710800	Active TSS	Placenta	Placenta
50	chr16:30709000-30710800	Active TSS	Rectal Smooth Muscle	rectum

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