Variant report

Variant	rs1264309
Chromosome Location	chr6:30875899-30875900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:424)
CpG islands
(count:244)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr6:30875535-30876082	A549	lung:	n/a	n/a
2	POLR2A	chr6:30875471-30876159	HL-60	blood:	n/a	n/a
3	MAFF	chr6:30875725-30875973	HepG2	liver:	n/a	n/a
4	PAX5	chr6:30875504-30875906	GM12892	blood:	n/a	n/a
5	MXI1	chr6:30875380-30876608	IMR90	lung:	n/a	n/a
6	MAX	chr6:30875495-30876402	MCF-7	breast:	n/a	n/a
7	ELF1	chr6:30875577-30876087	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:30875516-30876357	HUVEC	blood vessel:	n/a	n/a
9	MAX	chr6:30875552-30876353	K562	blood:	n/a	n/a
10	POLR2A	chr6:30875499-30876256	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr6:30875472-30876384	Raji	blood:	n/a	n/a
12	ZNF143	chr6:30875491-30876340	K562	blood:	n/a	chr6:30875924-30875939 chr6:30875845-30875864 chr6:30875865-30875874 chr6:30875921-30875940 chr6:30875858-30875876 chr6:30875936-30875946 chr6:30875917-30875935 chr6:30875867-30875876
13	FOS	chr6:30875416-30876032	MCF10A-Er-Src	breast:	n/a	chr6:30875712-30875721
14	RCOR1	chr6:30875404-30876219	K562	blood:	n/a	n/a
15	IRF1	chr6:30875568-30876130	K562	blood:	n/a	chr6:30875707-30875721
16	TBP	chr6:30875591-30876068	H1-hESC	embryonic stem cell:	n/a	n/a
17	ELK1	chr6:30875649-30876008	GM12878	blood:	n/a	n/a
18	NFATC1	chr6:30875488-30876176	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:30875362-30876178	PANC-1	pancreas:	n/a	n/a
20	BCLAF1	chr6:30875469-30876244	K562	blood:	n/a	n/a
21	WRNIP1	chr6:30875598-30876071	GM12878	blood:	n/a	n/a
22	SIX5	chr6:30875628-30876146	K562	blood:	n/a	chr6:30875867-30875876 chr6:30875865-30875874
23	STAT5A	chr6:30875518-30876334	GM12878	blood:	n/a	n/a
24	SRF	chr6:30875619-30876024	HepG2	liver:	n/a	n/a
25	GTF2B	chr6:30875548-30876158	K562	blood:	n/a	n/a
26	POU2F2	chr6:30875512-30876116	GM12878	blood:	n/a	n/a
27	ETS1	chr6:30875522-30876052	K562	blood:	n/a	chr6:30875864-30875877
28	IRF1	chr6:30875588-30876217	K562	blood:	n/a	chr6:30875707-30875721
29	MBD4	chr6:30875480-30876336	HepG2	liver:	n/a	n/a
30	FOS	chr6:30875464-30875976	MCF10A-Er-Src	breast:	n/a	chr6:30875712-30875721
31	E2F6	chr6:30875502-30876123	H1-hESC	embryonic stem cell:	n/a	chr6:30875714-30875725
32	STAT3	chr6:30875532-30876024	MCF10A-Er-Src	breast:	n/a	n/a
33	MAFK	chr6:30875603-30876028	Hela-S3	cervix:	n/a	n/a
34	SPI1	chr6:30875594-30875946	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:30875486-30876135	SK-N-MC	brain:	n/a	n/a
36	CHD2	chr6:30875628-30876232	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:30875407-30875999	GM12892	blood:	n/a	n/a
38	IRF4	chr6:30875514-30876088	GM12878	blood:	n/a	n/a
39	YY1	chr6:30875532-30876048	K562	blood:	n/a	n/a
40	TAF1	chr6:30875576-30875983	Hela-S3	cervix:	n/a	n/a
41	FOXP2	chr6:30875521-30875963	PFSK-1	brain:	n/a	n/a
42	CUX1	chr6:30875690-30876021	K562	blood:	n/a	n/a
43	SIN3AK20	chr6:30875495-30876124	SK-N-SH	brain:	n/a	n/a
44	GABPA	chr6:30875585-30876059	GM12878	blood:	n/a	chr6:30875935-30875944
45	RUNX3	chr6:30875432-30876204	GM12878	blood:	n/a	n/a
46	RFX5	chr6:30875747-30875934	HepG2	liver:	n/a	n/a
47	TEAD4	chr6:30875365-30876526	K562	blood:	n/a	n/a
48	FOS	chr6:30875407-30876024	MCF10A-Er-Src	breast:	n/a	chr6:30875712-30875721
49	YY1	chr6:30875540-30876311	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr6:30875660-30876293	Hela-S3	cervix:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30875854-30875904	BE2_C	brain:	n/a
2	chr6:30875892-30875942	SKMC	muscle:	n/a
3	chr6:30875854-30875904	Hela-S3	cervix:	n/a
4	chr6:30875883-30875933	RPTEC	kidney:	n/a
5	chr6:30875881-30875931	HRPEpiC	eye:	n/a
6	chr6:30875883-30875933	HCF	heart:	n/a
7	chr6:30875881-30875931	BE2_C	brain:	n/a
8	chr6:30875854-30875904	HCT-116	colon:	n/a
9	chr6:30875881-30875931	GM19239	blood:	n/a
10	chr6:30875883-30875933	GM06990	blood:	n/a
11	chr6:30875854-30875904	AoSMC	blood vessel:	n/a
12	chr6:30875854-30875904	LNCaP	prostate:	n/a
13	chr6:30875892-30875942	HRE	kidney:	n/a
14	chr6:30875892-30875942	SK-N-MC	brain:	n/a
15	chr6:30875892-30875942	BJ	skin:	n/a
16	chr6:30875881-30875931	PANC-1	pancreas:	n/a
17	chr6:30875881-30875931	MCF-7	breast:	n/a
18	chr6:30875854-30875904	HMEC	breast:	n/a
19	chr6:30875881-30875931	NH-A	brain:	n/a
20	chr6:30875883-30875933	GM12878	blood:	n/a
21	chr6:30875883-30875933	SKMC	muscle:	n/a
22	chr6:30875854-30875904	SK-N-SH	brain:	n/a
23	chr6:30875881-30875931	PrEC	prostate:	n/a
24	chr6:30875881-30875931	NT2-D1	testis:	n/a
25	chr6:30875892-30875942	IMR90	lung:	fetal
26	chr6:30875881-30875931	AG09319	gingival:	n/a
27	chr6:30875892-30875942	GM12891	blood:	n/a
28	chr6:30875883-30875933	HIPEpiC	eye:	n/a
29	chr6:30875892-30875942	MCF-7	breast:	n/a
30	chr6:30875854-30875904	Hepatocyte	liver:	n/a
31	chr6:30875883-30875933	HRCEpiC	kidney:	n/a
32	chr6:30875854-30875904	CMK	blood:	n/a
33	chr6:30875892-30875942	HCPEpiC	choroid plexus:	n/a
34	chr6:30875883-30875933	ProgFib	skin:	n/a
35	chr6:30875892-30875942	AoSMC	blood vessel:	n/a
36	chr6:30875854-30875904	SK-N-SH_RA	brain:	n/a
37	chr6:30875854-30875904	GM12878	blood:	n/a
38	chr6:30875881-30875931	HepG2	liver:	n/a
39	chr6:30875892-30875942	HCT-116	colon:	n/a
40	chr6:30875892-30875942	HCF	heart:	n/a
41	chr6:30875881-30875931	CMK	blood:	n/a
42	chr6:30875892-30875942	HEEpiC	esophagus:	n/a
43	chr6:30875883-30875933	A549	lung:	n/a
44	chr6:30875892-30875942	HCM	heart:	n/a
45	chr6:30875854-30875904	GM12891	blood:	n/a
46	chr6:30875883-30875933	SK-N-SH_RA	brain:	n/a
47	chr6:30875892-30875942	Jurkat	blood:	n/a
48	chr6:30875854-30875904	MCF10A-Er-Src	breast:	n/a
49	chr6:30875854-30875904	NHBE	bronchial:	n/a
50	chr6:30875881-30875931	SK-N-SH	brain:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30849687..30852078-chr6:30875212..30877587,2	K562	blood:
2	chr6:30707481..30713943-chr6:30872979..30880006,10	MCF-7	breast:
3	chr6:30856696..30860777-chr6:30873663..30877180,4	K562	blood:
4	chr6:30849765..30853673-chr6:30873635..30876591,7	MCF-7	breast:
5	chr6:30850512..30853465-chr6:30873614..30877587,4	K562	blood:
6	chr6:30687770..30690244-chr6:30875447..30877174,2	MCF-7	breast:
7	chr6:30848838..30854096-chr6:30874501..30878794,8	MCF-7	breast:
8	chr6:30862733..30867301-chr6:30870947..30877299,8	K562	blood:
9	chr6:30853891..30856446-chr6:30875282..30877202,3	K562	blood:
10	chr6:30521879..30524871-chr6:30874411..30877273,3	K562	blood:
11	chr6:30861872..30865234-chr6:30873633..30877003,5	MCF-7	breast:
12	chr6:30859072..30860642-chr6:30873697..30876648,2	MCF-7	breast:
13	chr6:30874031..30876407-chr6:30886352..30887855,2	MCF-7	breast:

No data

Variant related genes	Relation type
VARS2	TF binding region
GTF2H4	TF binding region
GTF2H4	CpG island
VARS2	CpG island
ENSG00000272273	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000264594	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000196230	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1264297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1264301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264305	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1264307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1264320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1264332	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1264342	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17189763	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2074506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2240804	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2249459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2252856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2252863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2394856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2517449	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2517457	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2517461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2517462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2517463	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2517466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2517468	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2517573	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2517575	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2517577	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2517582	0.86[EUR][1000 genomes]
rs2532920	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2532921	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2532927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2532928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2532929	0.90[EUR][1000 genomes]
rs2532930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2532933	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2532935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2532936	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2532937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2532938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2532939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2532940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2532942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2532943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2535325	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2535326	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2535327	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2535329	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2535330	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2535331	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2535335	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2535336	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2535337	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2535339	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2844652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2844654	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2844655	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2844658	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844662	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844663	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844664	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844698	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2844699	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2844702	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3130657	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs753726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7738138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs887381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9262288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262291	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv525438	chr6:30864829-30933975	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1264309	GTF2H4///VARS2	Cis_1M	lymphoblastoid	RTeQTL
rs1264309	GRM4	cis	parietal	SCAN
rs1264309	HIST1H2BL	cis	parietal	SCAN
rs1264309	VARS2	cis	multi-tissue	Pritchard
rs1264309	HCG22	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30858400-30876000	Weak transcription	Fetal Heart	heart
2	chr6:30866600-30876000	Weak transcription	Small Intestine	intestine
3	chr6:30867800-30876000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:30875000-30876600	Active TSS	GM12878-XiMat	blood
5	chr6:30875000-30877000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:30875200-30876200	Active TSS	Primary T cells from cord blood	blood
7	chr6:30875200-30876200	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr6:30875200-30876200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr6:30875200-30876200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:30875200-30876200	Active TSS	Liver	Liver
11	chr6:30875200-30876200	Active TSS	Duodenum Mucosa	Duodenum
12	chr6:30875200-30876200	Active TSS	Placenta	Placenta
13	chr6:30875200-30876200	Active TSS	Thymus	Thymus
14	chr6:30875200-30876400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr6:30875200-30876400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr6:30875200-30876400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:30875200-30876400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:30875200-30876400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:30875200-30876400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:30875200-30876400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr6:30875200-30876400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr6:30875200-30876400	Active TSS	Fetal Intestine Large	intestine
23	chr6:30875200-30876400	Active TSS	Fetal Intestine Small	intestine
24	chr6:30875200-30876400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr6:30875200-30876400	Active TSS	Rectal Smooth Muscle	rectum
26	chr6:30875200-30876600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:30875200-30876600	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr6:30875200-30876600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:30875200-30876600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:30875200-30876600	Active TSS	Pancreas	Pancrea
31	chr6:30875200-30876600	Active TSS	A549	lung
32	chr6:30875200-30877000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr6:30875200-30877000	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr6:30875200-30877200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:30875200-30877200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:30875400-30876000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:30875400-30876000	Active TSS	HepG2	liver
38	chr6:30875400-30876200	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr6:30875400-30876400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr6:30875400-30876400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:30875400-30876400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:30875400-30876400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:30875400-30876400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:30875400-30876400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr6:30875400-30876400	Active TSS	Muscle Satellite Cultured Cells	--
46	chr6:30875400-30876400	Active TSS	Brain Angular Gyrus	brain
47	chr6:30875400-30876400	Active TSS	Brain Anterior Caudate	brain
48	chr6:30875400-30876400	Active TSS	Brain Cingulate Gyrus	brain
49	chr6:30875400-30876400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:30875400-30876400	Active TSS	Brain Substantia Nigra	brain

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