Variant report

Variant	rs1059306
Chromosome Location	chr6:86388109-86388110
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:356)
CpG islands
(count:183)
Chromatin interactive
region (count:52)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:86381750-86389506	Hela-S3	cervix:	n/a	n/a
2	E2F6	chr6:86388083-86388300	K562	blood:	n/a	n/a
3	STAT3	chr6:86388042-86388651	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr6:86387895-86389636	K562	blood:	n/a	chr6:86389008-86389017 chr6:86389007-86389018
5	POLR2A	chr6:86387789-86388569	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:86388007-86389101	A549	lung:	n/a	n/a
7	CHD2	chr6:86387900-86389291	GM12878	blood:	n/a	n/a
8	ELF1	chr6:86388105-86389035	GM12878	blood:	n/a	chr6:86388837-86388849 chr6:86388913-86388925
9	EP300	chr6:86387400-86389406	GM12878	blood:	n/a	chr6:86389040-86389056 chr6:86388650-86388666
10	MAX	chr6:86387777-86389283	K562	blood:	n/a	chr6:86389008-86389017 chr6:86389007-86389018
11	SP4	chr6:86388102-86389341	H1-hESC	embryonic stem cell:	n/a	chr6:86388507-86388518
12	POLR2A	chr6:86386940-86389304	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr6:86387718-86389273	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr6:86381804-86389694	K562	blood:	n/a	n/a
15	REST	chr6:86387958-86388580	A549	lung:	n/a	n/a
16	REST	chr6:86387472-86389238	H1-neurons	neurons:	n/a	n/a
17	ELF1	chr6:86387983-86389177	GM12878	blood:	n/a	chr6:86388837-86388849 chr6:86388913-86388925
18	EP300	chr6:86387884-86389412	ECC-1	luminal epithelium:	n/a	chr6:86389040-86389056 chr6:86388650-86388666
19	EP300	chr6:86387826-86389443	GM12878	blood:	n/a	chr6:86389040-86389056 chr6:86388650-86388666
20	JUN	chr6:86388035-86388882	K562	blood:	n/a	n/a
21	REST	chr6:86387810-86389625	HL-60	blood:	n/a	n/a
22	MAX	chr6:86387894-86389270	HepG2	liver:	n/a	chr6:86389008-86389017 chr6:86389007-86389018
23	POLR2A	chr6:86387849-86389404	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr6:86387722-86389205	K562	blood:	n/a	n/a
25	POLR2A	chr6:86388080-86388883	A549	lung:	n/a	n/a
26	ETS1	chr6:86388077-86389195	GM12878	blood:	n/a	n/a
27	YY1	chr6:86387726-86389269	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:86387658-86389341	K562	blood:	n/a	n/a
29	POLR2A	chr6:86387687-86389267	Hela-S3	cervix:	n/a	n/a
30	ZNF143	chr6:86388032-86389388	H1-hESC	embryonic stem cell:	n/a	chr6:86389060-86389079
31	POLR2A	chr6:86387425-86389393	HL-60	blood:	n/a	n/a
32	HEY1	chr6:86386803-86389291	HepG2	liver:	n/a	n/a
33	RUNX3	chr6:86387800-86389346	GM12878	blood:	n/a	n/a
34	MAX	chr6:86387980-86389311	MCF-7	breast:	n/a	chr6:86389008-86389017 chr6:86389007-86389018
35	MYC	chr6:86387984-86389282	H1-hESC	embryonic stem cell:	n/a	chr6:86389008-86389017 chr6:86389007-86389018
36	POLR2A	chr6:86386861-86389609	GM12892	blood:	n/a	n/a
37	MAX	chr6:86388081-86389247	HUVEC	blood vessel:	n/a	chr6:86389008-86389017 chr6:86389007-86389018
38	RELA	chr6:86387490-86389647	GM15510	blood:	n/a	n/a
39	TBP	chr6:86386818-86389855	Hela-S3	cervix:	n/a	chr6:86388472-86388483
40	POLR2A	chr6:86381512-86389676	PFSK-1	brain:	n/a	n/a
41	MXI1	chr6:86386518-86390564	IMR90	lung:	n/a	n/a
42	MAX	chr6:86387927-86389410	SK-N-SH	brain:	n/a	chr6:86389008-86389017 chr6:86389007-86389018
43	ELK1	chr6:86387293-86389199	K562	blood:	n/a	n/a
44	HCFC1	chr6:86387002-86390095	Hela-S3	cervix:	n/a	n/a
45	MAX	chr6:86387813-86389683	HCT-116	colon:	n/a	chr6:86389008-86389017 chr6:86389007-86389018
46	MXI1	chr6:86388044-86389359	Hela-S3	cervix:	n/a	n/a
47	TBP	chr6:86387832-86389319	H1-hESC	embryonic stem cell:	n/a	chr6:86388472-86388483
48	POLR2A	chr6:86387665-86389472	SK-N-MC	brain:	n/a	n/a
49	TCF12	chr6:86388076-86389473	ECC-1	luminal epithelium:	n/a	n/a
50	MAZ	chr6:86388053-86389321	Hela-S3	cervix:	n/a	chr6:86389008-86389017 chr6:86389007-86389018

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:86388069-86388119	AG04450	lung:	fetal
2	chr6:86388072-86388122	HEEpiC	esophagus:	n/a
3	chr6:86388069-86388119	SAEC	small airway:	n/a
4	chr6:86388069-86388119	CMK	blood:	n/a
5	chr6:86388072-86388122	ECC-1	luminal epithelium:	n/a
6	chr6:86388066-86388116	NB4	blood:	n/a
7	chr6:86388069-86388119	GM19239	blood:	n/a
8	chr6:86388069-86388119	AG09309	skin:	n/a
9	chr6:86388069-86388119	HCT-116	colon:	n/a
10	chr6:86388066-86388116	LNCaP	prostate:	n/a
11	chr6:86388066-86388116	HRPEpiC	eye:	n/a
12	chr6:86388072-86388122	AG04450	lung:	fetal
13	chr6:86388072-86388122	HCF	heart:	n/a
14	chr6:86388072-86388122	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:86388069-86388119	Caco-2	colon:	n/a
16	chr6:86388066-86388116	ProgFib	skin:	n/a
17	chr6:86388066-86388116	HIPEpiC	eye:	n/a
18	chr6:86388069-86388119	HIPEpiC	eye:	n/a
19	chr6:86388069-86388119	BE2_C	brain:	n/a
20	chr6:86388072-86388122	SK-N-SH_RA	brain:	n/a
21	chr6:86388069-86388119	SK-N-SH_RA	brain:	n/a
22	chr6:86388069-86388119	HepG2	liver:	n/a
23	chr6:86388069-86388119	NH-A	brain:	n/a
24	chr6:86388066-86388116	H1-hESC	embryonic stem cell:	embryo
25	chr6:86388072-86388122	GM12892	blood:	n/a
26	chr6:86388066-86388116	K562	blood:	n/a
27	chr6:86388069-86388119	BJ	skin:	n/a
28	chr6:86388072-86388122	Hela-S3	cervix:	n/a
29	chr6:86388072-86388122	Jurkat	blood:	n/a
30	chr6:86388069-86388119	SK-N-SH	brain:	n/a
31	chr6:86388069-86388119	SK-N-MC	brain:	n/a
32	chr6:86388072-86388122	SK-N-SH	brain:	n/a
33	chr6:86388072-86388122	HRPEpiC	eye:	n/a
34	chr6:86388069-86388119	HNPCEpiC	eye:	n/a
35	chr6:86388066-86388116	GM12878	blood:	n/a
36	chr6:86388072-86388122	AG09319	gingival:	n/a
37	chr6:86388069-86388119	GM12878	blood:	n/a
38	chr6:86388066-86388116	HEK293	kidney:	embryo
39	chr6:86388066-86388116	NHBE	bronchial:	n/a
40	chr6:86388066-86388116	HUVEC	blood vessel:	n/a
41	chr6:86388069-86388119	AG04449	skin:	fetal
42	chr6:86388072-86388122	H1-hESC	embryonic stem cell:	embryo
43	chr6:86388069-86388119	AG10803	skin:	n/a
44	chr6:86388069-86388119	H1-hESC	embryonic stem cell:	embryo
45	chr6:86388069-86388119	HRPEpiC	eye:	n/a
46	chr6:86388072-86388122	HRE	kidney:	n/a
47	chr6:86388069-86388119	ovcar-3	ovarian:	n/a
48	chr6:86388072-86388122	CMK	blood:	n/a
49	chr6:86388072-86388122	HIPEpiC	eye:	n/a
50	chr6:86388072-86388122	NHDF-neo	bronchial:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:64878879..64879722-chr6:86388078..86388848,2	HCT-116	colon:
2	chr6:86338689..86357756-chr6:86378394..86390434,115	MCF-7	breast:
3	chr6:86360455..86373602-chr6:86382637..86391992,19	MCF-7	breast:
4	chr12:54582582..54583203-chr6:86387938..86388805,2	Hela-S3	cervix:
5	chr6:86322647..86325206-chr6:86387381..86389770,2	MCF-7	breast:
6	chr17:62501951..62502569-chr6:86388005..86388789,2	HCT-116	colon:
7	chr6:86287818..86291892-chr6:86385672..86390313,6	MCF-7	breast:
8	chr6:86352417..86353203-chr6:86386848..86388878,6	MCF-7	breast:
9	chr17:73775484..73776235-chr6:86387856..86388540,2	Hela-S3	cervix:
10	chr6:85471670..85475300-chr6:86386961..86389961,4	K562	blood:
11	chr6:86296961..86299849-chr6:86387985..86389629,2	K562	blood:
12	chr6:86323280..86334231-chr6:86380512..86390230,24	K562	blood:
13	chr19:8386127..8386865-chr6:86388018..86388842,3	NB4	blood:
14	chr19:50179802..50180603-chr6:86388047..86388640,2	NB4	blood:
15	chr6:86387938..86388537-chrX:15693151..15693877,2	Hela-S3	cervix:
16	chr6:86258616..86262862-chr6:86386972..86389770,3	K562	blood:
17	chr19:12901722..12902622-chr6:86387993..86388524,2	Hela-S3	cervix:
18	chr6:30584423..30585893-chr6:86387949..86389099,4	Hela-S3	cervix:
19	chr6:86302271..86307129-chr6:86385631..86390073,11	MCF-7	breast:
20	chr6:86353436..86354584-chr6:86387812..86388533,4	Hela-S3	cervix:
21	chr19:571528..572784-chr6:86388024..86389358,4	Hela-S3	cervix:
22	chr20:32890403..32890932-chr6:86387883..86389053,3	Hela-S3	cervix:
23	chr6:86386878..86389803-chr6:86445514..86448985,3	K562	blood:
24	chr10:38146274..38146953-chr6:86387888..86388601,2	Hela-S3	cervix:
25	chr6:86387690..86388567-chrX:47863298..47863848,2	Hela-S3	cervix:
26	chr6:86246106..86247862-chr6:86386298..86390203,3	K562	blood:
27	chr1:245027355..245028168-chr6:86387910..86388486,2	Hela-S3	cervix:
28	chr16:15187836..15188830-chr6:86388107..86388868,2	Hela-S3	cervix:
29	chr10:74114103..74114912-chr6:86388026..86388936,2	Hela-S3	cervix:
30	chr20:30194850..30195550-chr6:86388024..86388539,2	Hela-S3	cervix:
31	chr19:47760508..47761071-chr6:86388025..86388587,2	Hela-S3	cervix:
32	chr6:31773748..31775519-chr6:86387939..86390447,2	MCF-7	breast:
33	chr6:86246140..86247926-chr6:86387829..86390203,2	K562	blood:
34	chr19:39897973..39898580-chr6:86387847..86388601,2	Hela-S3	cervix:
35	chr19:18667882..18668653-chr6:86388042..86388763,2	HCT-116	colon:
36	chr14:64971394..64971969-chr6:86387618..86388524,2	Hela-S3	cervix:
37	chr11:65189854..65190552-chr6:86387963..86388733,2	HCT-116	colon:
38	chr6:86386962..86389714-chr6:87862273..87864563,2	MCF-7	breast:
39	chr1:160990569..160991458-chr6:86388051..86388956,2	HCT-116	colon:
40	chr6:86300286..86310605-chr6:86384413..86390498,39	K562	blood:
41	chr6:86277967..86280027-chr6:86387160..86389820,3	K562	blood:
42	chr1:153507935..153508859-chr6:86387943..86388842,2	Hela-S3	cervix:
43	chr6:86298349..86307534-chr6:86383938..86391964,31	K562	blood:
44	chr6:86258544..86261104-chr6:86387142..86389153,2	K562	blood:
45	chr1:6844584..6845201-chr6:86387954..86388807,2	Hela-S3	cervix:
46	chr15:42119971..42120818-chr6:86387942..86388584,2	Hela-S3	cervix:
47	chr6:57086851..57087515-chr6:86388027..86388770,2	HCT-116	colon:
48	chr19:19068779..19069776-chr6:86387936..86388869,2	NB4	blood:
49	chr6:86352199..86352987-chr6:86387888..86388697,2	NB4	blood:
50	chr12:53399949..53400478-chr6:86387665..86388469,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NT5E-3	chr6:86387854-86388112	NONHSAT113858

No data

Variant related genes	Relation type
SNHG5	TF binding region
SNHG5	CpG island
ENSG00000204568	Chromatin interaction
ENSG00000260735	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000241172	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000236514	Chromatin interaction
ENSG00000267751	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000198105	Chromatin interaction
ENSG00000198668	Chromatin interaction
ENSG00000233927	Chromatin interaction
ENSG00000168970	Chromatin interaction
ENSG00000220563	Chromatin interaction
ENSG00000204392	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000171489	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000101444	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000186312	Chromatin interaction
ENSG00000147118	Chromatin interaction
ENSG00000237436	Chromatin interaction
ENSG00000236016	Chromatin interaction
ENSG00000135316	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000250379	Chromatin interaction
ENSG00000267855	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000273175	Chromatin interaction
ENSG00000126457	Chromatin interaction
ENSG00000243789	Chromatin interaction
ENSG00000153187	Chromatin interaction
ENSG00000188994	Chromatin interaction
ENSG00000112210	Chromatin interaction
ENSG00000172270	Chromatin interaction
ENSG00000167774	Chromatin interaction
ENSG00000063046	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000105321	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000112837	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000085721	Chromatin interaction
ENSG00000271793	Chromatin interaction
ENSG00000148719	Chromatin interaction
ENSG00000123415	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000135317	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000198738	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10944133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10944137	0.82[CEU][hapmap]
rs1173415	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1173417	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs11755642	0.82[CEU][hapmap]
rs11758508	0.82[CEU][hapmap]
rs12192546	0.82[CEU][hapmap]
rs12193904	0.82[CEU][hapmap]
rs12199873	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12203963	0.84[CEU][hapmap]
rs12205013	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12212480	0.81[CEU][hapmap]
rs12212560	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs12665464	0.82[CEU][hapmap]
rs13207173	0.82[CEU][hapmap]
rs1335442	0.82[CEU][hapmap]
rs1470531	0.82[CEU][hapmap]
rs1885607	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2121594	0.81[CEU][hapmap]
rs2225754	0.82[CEU][hapmap]
rs2475790	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2475791	0.83[CHB][hapmap];0.84[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2475792	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs2484355	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2758840	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2758842	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs2758843	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs2758844	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2758845	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs2758846	0.95[CEU][hapmap];0.82[CHB][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2758847	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2758848	0.83[CEU][hapmap]
rs2783171	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2842600	0.83[CEU][hapmap]
rs2842601	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2842602	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2842603	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs2842604	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2842607	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2842608	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2842609	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2842611	0.83[CEU][hapmap]
rs2842612	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2842613	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2842614	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs2842617	0.82[EUR][1000 genomes]
rs3087978	0.83[CEU][hapmap]
rs3812133	0.95[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4145082	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4304137	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4348284	0.84[CEU][hapmap]
rs4351223	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs4383777	0.88[EUR][1000 genomes]
rs4419647	0.90[EUR][1000 genomes]
rs4431401	0.83[CEU][hapmap]
rs4441928	0.95[CEU][hapmap];0.81[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4706240	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4707211	0.84[CEU][hapmap]
rs4707217	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6454471	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6454486	0.88[EUR][1000 genomes]
rs6454487	0.82[CEU][hapmap]
rs6909767	0.91[CEU][hapmap]
rs6922	1.00[CEU][hapmap]
rs6926049	0.82[EUR][1000 genomes]
rs6935918	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs7452605	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7739241	0.82[CEU][hapmap]
rs7742201	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7742691	0.91[CEU][hapmap]
rs7752502	0.83[EUR][1000 genomes]
rs7757864	0.86[EUR][1000 genomes]
rs7762321	0.82[EUR][1000 genomes]
rs7768065	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7771612	0.83[CEU][hapmap]
rs911927	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs9294337	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9342041	0.80[EUR][1000 genomes]
rs9342046	0.86[EUR][1000 genomes]
rs9344532	0.95[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9344533	0.91[CEU][hapmap]
rs9344542	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs9351065	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9353318	0.95[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9353320	0.80[EUR][1000 genomes]
rs9353327	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs9362230	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9362233	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9362239	0.89[EUR][1000 genomes]
rs9444352	0.83[CEU][hapmap]
rs9450284	0.82[CEU][hapmap]
rs9450285	0.83[CEU][hapmap]
rs9450290	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9450302	0.91[CEU][hapmap]
rs9450318	0.89[EUR][1000 genomes]
rs9450319	0.88[EUR][1000 genomes]
rs9647601	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
4	nsv1028293	chr6:86353958-86778912	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases
5	nsv538350	chr6:86353958-86778912	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs1059306	SNHG5	cis	lung	GTEx
rs1059306	SNHG5	cis	Adipose Subcutaneous	GTEx
rs1059306	SNHG5	cis	Nerve Tibial	GTEx
rs1059306	SNHG5	cis	multi-tissue	Pritchard
rs1059306	C6orf160	cis	lesional skin	skin_eQTL
rs1059306	SNHG5	cis	Heart Left Ventricle	GTEx
rs1059306	SNHG5	cis	Artery Tibial	GTEx
rs1059306	SNHG5	cis	Esophagus Muscularis	GTEx
rs1059306	SNHG5	Cis_1M	lymphoblastoid	RTeQTL
rs1059306	SNHG5	cis	Thyroid	GTEx
rs1059306	SNHG5	cis	Skin Sun Exposed Lower leg	GTEx
rs1059306	SNHG5	cis	Esophagus Mucosa	GTEx
rs1059306	C6orf160	cis	normal skin	skin_eQTL
rs1059306	SNHG5	cis	Whole Blood	GTEx
rs1059306	C6orf160	cis	uninvolved skin	skin_eQTL
rs1059306	SNHG5	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86384200-86388200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
2	chr6:86384800-86388200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
3	chr6:86384800-86388200	Active TSS	Right Atrium	heart
4	chr6:86384800-86388400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
5	chr6:86385000-86389400	Active TSS	Right Ventricle	heart
6	chr6:86385000-86390200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:86385000-86390400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:86385200-86388800	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr6:86385200-86389000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:86385200-86389800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr6:86385200-86390000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:86385400-86389400	Active TSS	Aorta	Aorta
13	chr6:86385400-86389400	Active TSS	Ovary	ovary
14	chr6:86385600-86388400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr6:86385800-86388800	Active TSS	Colonic Mucosa	Colon
16	chr6:86385800-86389000	Active TSS	Stomach Smooth Muscle	stomach
17	chr6:86385800-86389200	Active TSS	Colon Smooth Muscle	Colon
18	chr6:86385800-86389200	Active TSS	Left Ventricle	heart
19	chr6:86385800-86389200	Active TSS	Lung	lung
20	chr6:86385800-86389400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:86385800-86389400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:86386000-86388200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:86386000-86389000	Active TSS	Fetal Intestine Small	intestine
24	chr6:86386000-86389000	Active TSS	HSMMtube	muscle
25	chr6:86386000-86389200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr6:86386000-86389200	Active TSS	Small Intestine	intestine
27	chr6:86386000-86389200	Active TSS	Stomach Mucosa	stomach
28	chr6:86386000-86389600	Active TSS	Psoas Muscle	Psoas
29	chr6:86386000-86390200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:86386200-86389000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:86386200-86389000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr6:86386200-86389000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:86386200-86389000	Active TSS	Fetal Intestine Large	intestine
34	chr6:86386200-86389000	Active TSS	Fetal Stomach	stomach
35	chr6:86386200-86389200	Active TSS	Fetal Heart	heart
36	chr6:86386200-86389200	Active TSS	Thymus	Thymus
37	chr6:86386200-86389400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:86386200-86389400	Active TSS	Fetal Muscle Leg	muscle
39	chr6:86386200-86390600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:86386400-86388800	Active TSS	Primary B cells from peripheral blood	blood
41	chr6:86386400-86388800	Active TSS	Primary T cells fromperipheralblood	blood
42	chr6:86386400-86389000	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr6:86386400-86389000	Active TSS	Duodenum Mucosa	Duodenum
44	chr6:86386400-86389000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr6:86386400-86389000	Active TSS	Placenta	Placenta
46	chr6:86386400-86389000	Active TSS	Rectal Smooth Muscle	rectum
47	chr6:86386400-86389200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:86386400-86389200	Active TSS	Fetal Lung	lung
49	chr6:86386400-86389200	Active TSS	Placenta Amnion	Placenta Amnion
50	chr6:86386400-86389400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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