Variant report

Variant	rs2532920
Chromosome Location	chr6:30923629-30923630
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	PML	chr6:30923212-30923716	K562	blood:	n/a	n/a
2	POLR2A	chr6:30923113-30923733	GM12878	blood:	n/a	n/a
3	UBTF	chr6:30923156-30923700	K562	blood:	n/a	n/a
4	POLR2A	chr6:30923038-30923744	SK-N-MC	brain:	n/a	n/a
5	HCFC1	chr6:30923245-30923725	K562	blood:	n/a	n/a
6	YY1	chr6:30923357-30923651	GM12891	blood:	n/a	chr6:30923587-30923601 chr6:30923590-30923604 chr6:30923590-30923599 chr6:30923640-30923651 chr6:30923587-30923596
7	PML	chr6:30923046-30924081	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:30923220-30923821	GM15510	blood:	n/a	n/a
9	TAF1	chr6:30923048-30923729	K562	blood:	n/a	n/a
10	RCOR1	chr6:30923095-30923808	K562	blood:	n/a	n/a
11	EGR1	chr6:30923322-30923810	K562	blood:	n/a	chr6:30923591-30923604 chr6:30923591-30923604 chr6:30923588-30923602 chr6:30923591-30923604 chr6:30923592-30923602 chr6:30923592-30923602 chr6:30923591-30923604 chr6:30923586-30923608 chr6:30923592-30923603 chr6:30923590-30923604 chr6:30923591-30923601 chr6:30923592-30923601
12	POLR2A	chr6:30923202-30923663	K562	blood:	n/a	n/a
13	POLR2A	chr6:30923055-30923732	GM12892	blood:	n/a	n/a
14	EP300	chr6:30923393-30923771	GM12878	blood:	n/a	chr6:30923590-30923599
15	MAX	chr6:30923349-30923813	K562	blood:	n/a	n/a
16	STAT5A	chr6:30923593-30923948	GM12878	blood:	n/a	n/a
17	EGR1	chr6:30923272-30923873	K562	blood:	n/a	chr6:30923591-30923604 chr6:30923591-30923604 chr6:30923588-30923602 chr6:30923591-30923604 chr6:30923592-30923602 chr6:30923592-30923602 chr6:30923591-30923604 chr6:30923586-30923608 chr6:30923592-30923603 chr6:30923590-30923604 chr6:30923591-30923601 chr6:30923592-30923601
18	BHLHE40	chr6:30923363-30923757	K562	blood:	n/a	chr6:30923590-30923606
19	HMGN3	chr6:30923179-30923774	K562	blood:	n/a	n/a
20	NR2F2	chr6:30923333-30923750	K562	blood:	n/a	n/a
21	GABPA	chr6:30923090-30923833	HL-60	blood:	n/a	chr6:30923531-30923538
22	RUNX3	chr6:30923277-30923814	GM12878	blood:	n/a	n/a
23	EGR1	chr6:30923366-30923832	ECC-1	luminal epithelium:	n/a	chr6:30923591-30923604 chr6:30923591-30923604 chr6:30923588-30923602 chr6:30923591-30923604 chr6:30923592-30923602 chr6:30923592-30923602 chr6:30923591-30923604 chr6:30923586-30923608 chr6:30923592-30923603 chr6:30923590-30923604 chr6:30923591-30923601 chr6:30923592-30923601
24	GABPA	chr6:30923274-30923708	H1-hESC	embryonic stem cell:	n/a	chr6:30923531-30923538
25	TCF7L2	chr6:30923176-30923713	HEK293	kidney:	n/a	n/a
26	E2F6	chr6:30923320-30923934	H1-hESC	embryonic stem cell:	n/a	chr6:30923591-30923601 chr6:30923588-30923598
27	ELK1	chr6:30923390-30923653	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:30923235-30923766	GM19099	blood:	n/a	n/a
29	GABPA	chr6:30923294-30923681	GM12878	blood:	n/a	chr6:30923531-30923538
30	EGR1	chr6:30923443-30923811	ECC-1	luminal epithelium:	n/a	chr6:30923591-30923604 chr6:30923591-30923604 chr6:30923588-30923602 chr6:30923591-30923604 chr6:30923592-30923602 chr6:30923592-30923602 chr6:30923591-30923604 chr6:30923586-30923608 chr6:30923592-30923603 chr6:30923590-30923604 chr6:30923591-30923601 chr6:30923592-30923601
31	POLR2A	chr6:30923235-30923849	GM18526	blood:	n/a	n/a
32	STAT5A	chr6:30923229-30923742	K562	blood:	n/a	n/a
33	ELF1	chr6:30923224-30923758	GM12878	blood:	n/a	chr6:30923589-30923601
34	GABPA	chr6:30923186-30923754	K562	blood:	n/a	chr6:30923531-30923538
35	MAX	chr6:30923411-30923792	NB4	blood:	n/a	n/a
36	RCOR1	chr6:30923294-30923688	GM12878	blood:	n/a	n/a
37	TAF1	chr6:30923103-30923728	GM12892	blood:	n/a	n/a
38	ZBTB7A	chr6:30923310-30923819	ECC-1	luminal epithelium:	n/a	n/a
39	CHD2	chr6:30923503-30923660	K562	blood:	n/a	n/a
40	MAZ	chr6:30923111-30923885	K562	blood:	n/a	n/a
41	TAF1	chr6:30923075-30923741	GM12878	blood:	n/a	n/a
42	BCLAF1	chr6:30923229-30923779	GM12878	blood:	n/a	chr6:30923592-30923605 chr6:30923239-30923248 chr6:30923589-30923598 chr6:30923596-30923609
43	ELF1	chr6:30923295-30923716	K562	blood:	n/a	chr6:30923589-30923601
44	POLR2A	chr6:30923236-30923813	GM12878	blood:	n/a	n/a
45	EGR1	chr6:30923424-30923747	GM12878	blood:	n/a	chr6:30923591-30923604 chr6:30923591-30923604 chr6:30923588-30923602 chr6:30923591-30923604 chr6:30923592-30923602 chr6:30923592-30923602 chr6:30923591-30923604 chr6:30923586-30923608 chr6:30923592-30923603 chr6:30923590-30923604 chr6:30923591-30923601 chr6:30923592-30923601
46	FOXM1	chr6:30923167-30923804	GM12878	blood:	n/a	n/a
47	TBL1XR1	chr6:30923087-30923950	GM12878	blood:	n/a	n/a
48	ZNF384	chr6:30923376-30923642	K562	blood:	n/a	n/a
49	TEAD4	chr6:30923107-30924024	K562	blood:	n/a	n/a
50	PML	chr6:30923219-30923750	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30923593-30923643	HepG2	liver:	n/a
2	chr6:30923590-30923640	Jurkat	blood:	n/a
3	chr6:30923590-30923640	A549	lung:	n/a
4	chr6:30923593-30923643	PANC-1	pancreas:	n/a
5	chr6:30923590-30923640	HRE	kidney:	n/a
6	chr6:30923593-30923643	HCPEpiC	choroid plexus:	n/a
7	chr6:30923590-30923640	HMEC	breast:	n/a
8	chr6:30923593-30923643	SKMC	muscle:	n/a
9	chr6:30923593-30923643	U87	brain:	n/a
10	chr6:30923590-30923640	Caco-2	colon:	n/a
11	chr6:30923593-30923643	HRE	kidney:	n/a
12	chr6:30923593-30923643	AG09319	gingival:	n/a
13	chr6:30923593-30923643	LNCaP	prostate:	n/a
14	chr6:30923590-30923640	PFSK-1	brain:	n/a
15	chr6:30923590-30923640	Hela-S3	cervix:	n/a
16	chr6:30923593-30923643	IMR90	lung:	fetal
17	chr6:30923590-30923640	PANC-1	pancreas:	n/a
18	chr6:30923590-30923640	GM06990	blood:	n/a
19	chr6:30923593-30923643	GM19239	blood:	n/a
20	chr6:30923590-30923640	HRCEpiC	kidney:	n/a
21	chr6:30923593-30923643	NT2-D1	testis:	n/a
22	chr6:30923590-30923640	ovcar-3	ovarian:	n/a
23	chr6:30923593-30923643	NHBE	bronchial:	n/a
24	chr6:30923590-30923640	SAEC	small airway:	n/a
25	chr6:30923593-30923643	GM12878	blood:	n/a
26	chr6:30923590-30923640	HUVEC	blood vessel:	n/a
27	chr6:30923593-30923643	HAEpiC	amniotic membrane:	n/a
28	chr6:30923590-30923640	HAEpiC	amniotic membrane:	n/a
29	chr6:30923593-30923643	BE2_C	brain:	n/a
30	chr6:30923590-30923640	BJ	skin:	n/a
31	chr6:30923590-30923640	GM12892	blood:	n/a
32	chr6:30923590-30923640	HL-60	blood:	n/a
33	chr6:30923590-30923640	GM12891	blood:	n/a
34	chr6:30923590-30923640	AG09319	gingival:	n/a
35	chr6:30923590-30923640	K562	blood:	n/a
36	chr6:30923593-30923643	HRPEpiC	eye:	n/a
37	chr6:30923593-30923643	HUVEC	blood vessel:	n/a
38	chr6:30923590-30923640	HCM	heart:	n/a
39	chr6:30923590-30923640	HEEpiC	esophagus:	n/a
40	chr6:30923590-30923640	AG04449	skin:	fetal
41	chr6:30923593-30923643	ProgFib	skin:	n/a
42	chr6:30923590-30923640	Hepatocyte	liver:	n/a
43	chr6:30923593-30923643	T-47D	breast:	n/a
44	chr6:30923593-30923643	NHDF-neo	bronchial:	n/a
45	chr6:30923593-30923643	Jurkat	blood:	n/a
46	chr6:30923590-30923640	AG04450	lung:	fetal
47	chr6:30923590-30923640	ProgFib	skin:	n/a
48	chr6:30923590-30923640	NB4	blood:	n/a
49	chr6:30923593-30923643	HIPEpiC	eye:	n/a
50	chr6:30923590-30923640	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30887442..30889637-chr6:30923511..30925995,2	K562	blood:
2	chr6:30899631..30901775-chr6:30921844..30924494,3	K562	blood:
3	chr6:30843517..30845376-chr6:30923433..30925062,2	K562	blood:
4	chr6:30923532..30925911-chr6:30926547..30929064,2	K562	blood:

Variant related genes	Relation type
HCG21	TF binding region
HCG21	CpG island
ENSG00000237775	Chromatin interaction
ENSG00000252761	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000196260	Chromatin interaction
ENSG00000137411	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1264297	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1264298	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1264299	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1264300	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1264301	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1264302	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1264303	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1264305	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1264307	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1264309	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1264317	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1264320	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1264332	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1264342	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17189763	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2074506	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240804	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2249459	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2252760	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2252856	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2252863	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2394856	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2517449	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2517457	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2517461	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2517462	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2517463	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2517466	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2517468	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2517573	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2517575	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2517577	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2517582	0.80[EUR][1000 genomes]
rs2532921	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532927	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2532928	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2532929	0.85[EUR][1000 genomes]
rs2532930	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2532933	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2532935	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2532936	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2532937	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2532938	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2532939	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2532940	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2532942	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2532943	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2535325	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2535326	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2535327	0.91[EUR][1000 genomes]
rs2535329	0.91[EUR][1000 genomes]
rs2535330	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2535331	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2535335	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2535336	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2535337	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2535339	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2844652	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2844654	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2844655	0.91[EUR][1000 genomes]
rs2844658	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2844662	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2844663	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2844664	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2844698	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844699	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2844702	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3130657	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs753726	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7738138	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7756286	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs887381	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9262288	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9262289	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9262290	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9262291	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9262292	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9262293	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9262294	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[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	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
8	nsv462743	chr6:30905313-30957766	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv601483	chr6:30905313-30957766	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv462744	chr6:30920890-30955681	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv601484	chr6:30920890-30955681	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2532920	VARS2	cis	multi-tissue	Pritchard
rs2532920	GTF2H4///VARS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30922600-30924600	Bivalent Enhancer	HSMMtube	muscle
2	chr6:30922800-30923800	Bivalent Enhancer	Fetal Brain Male	brain
3	chr6:30922800-30924000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr6:30922800-30924000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:30922800-30924000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:30922800-30924200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr6:30922800-30924200	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr6:30922800-30924400	Enhancers	Fetal Heart	heart
9	chr6:30922800-30924400	Enhancers	Lung	lung
10	chr6:30922800-30924400	Flanking Bivalent TSS/Enh	Dnd41	blood
11	chr6:30923000-30923800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:30923000-30923800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr6:30923000-30923800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
14	chr6:30923000-30923800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:30923000-30923800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr6:30923000-30923800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:30923000-30923800	Active TSS	Brain Anterior Caudate	brain
18	chr6:30923000-30923800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
19	chr6:30923000-30923800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr6:30923000-30923800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr6:30923000-30923800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
22	chr6:30923000-30923800	Bivalent/Poised TSS	NHLF	lung
23	chr6:30923000-30924000	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr6:30923000-30924000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:30923000-30924000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:30923000-30924000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:30923000-30924000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr6:30923000-30924000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr6:30923000-30924000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
30	chr6:30923000-30924000	Active TSS	Fetal Kidney	kidney
31	chr6:30923000-30924000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr6:30923000-30924000	Active TSS	Right Ventricle	heart
33	chr6:30923000-30924000	Flanking Bivalent TSS/Enh	Thymus	Thymus
34	chr6:30923000-30924000	Flanking Active TSS	K562	blood
35	chr6:30923000-30924000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr6:30923000-30924000	Bivalent/Poised TSS	NH-A	brain
37	chr6:30923000-30924200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr6:30923000-30924200	Enhancers	Small Intestine	intestine
39	chr6:30923200-30923800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
40	chr6:30923200-30923800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:30923200-30923800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:30923200-30923800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr6:30923200-30923800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr6:30923200-30923800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr6:30923200-30923800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:30923200-30923800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:30923200-30923800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr6:30923200-30923800	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr6:30923200-30923800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:30923200-30923800	Active TSS	Brain Inferior Temporal Lobe	brain

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