Variant report

Variant	rs2747054
Chromosome Location	chr6:27783359-27783360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:27781476-27784189	ProgFib	skin:	n/a	n/a
2	PML	chr6:27782350-27784057	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:27781096-27784165	GM18505	blood:	n/a	n/a
4	POLR2A	chr6:27782701-27783796	U87	brain:	n/a	n/a
5	ZBTB33	chr6:27782429-27783489	SK-N-SH	brain:	n/a	n/a
6	CBX3	chr6:27782431-27783364	HCT-116	colon:	n/a	n/a
7	POLR2A	chr6:27781536-27783771	HUVEC	blood vessel:	n/a	n/a
8	SIN3AK20	chr6:27782618-27783359	PANC-1	pancreas:	n/a	n/a
9	STAT5A	chr6:27782626-27783790	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:27781320-27783475	U87	brain:	n/a	n/a
11	POLR2A	chr6:27782678-27783519	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:27779808-27783925	H1-hESC	embryonic stem cell:	n/a	n/a
13	MTA3	chr6:27782365-27783982	GM12878	blood:	n/a	n/a
14	IKZF1	chr6:27783326-27783949	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:27781403-27783773	GM12891	blood:	n/a	n/a
16	FOXM1	chr6:27781391-27783896	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:27781286-27783860	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr6:27780777-27784258	GM12878	blood:	n/a	n/a
19	MYBL2	chr6:27781455-27783474	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:27781293-27783971	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr6:27781474-27784000	Raji	blood:	n/a	n/a
22	POLR2A	chr6:27781507-27783878	GM12891	blood:	n/a	n/a
23	MAX	chr6:27782639-27784028	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:27781310-27783784	GM12892	blood:	n/a	n/a
25	POLR2A	chr6:27782357-27783872	HUVEC	blood vessel:	n/a	n/a
26	ATF2	chr6:27783205-27783916	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:27781423-27784034	GM15510	blood:	n/a	n/a
28	POLR2A	chr6:27774157-27784396	MCF-7	breast:	n/a	n/a
29	POLR2A	chr6:27781253-27783998	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:27782691-27783373	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:27781582-27783702	PFSK-1	brain:	n/a	n/a
32	ELF1	chr6:27782833-27783719	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:27781252-27783870	GM12878	blood:	n/a	n/a
34	FOXM1	chr6:27781661-27783744	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:27781783-27783473	IMR90	lung:	n/a	n/a
36	PAX5	chr6:27783326-27783580	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:27781464-27783522	HepG2	liver:	n/a	n/a
38	USF2	chr6:27782536-27783419	Hela-S3	cervix:	n/a	n/a
39	KAT2A	chr6:27782514-27783737	GM12878	blood:	n/a	n/a
40	POLR2A	chr6:27780977-27784153	GM12891	blood:	n/a	n/a
41	POLR2A	chr6:27781267-27783987	GM12892	blood:	n/a	n/a
42	POLR2A	chr6:27781252-27783997	GM12878	blood:	n/a	n/a
43	CREB1	chr6:27782468-27783540	GM12878	blood:	n/a	chr6:27782698-27782711
44	HEY1	chr6:27781345-27783713	HepG2	liver:	n/a	chr6:27782701-27782710 chr6:27782699-27782708
45	POLR2A	chr6:27782360-27783998	HUVEC	blood vessel:	n/a	n/a
46	MAX	chr6:27782526-27784036	NB4	blood:	n/a	n/a
47	POLR2A	chr6:27781038-27783955	GM12892	blood:	n/a	n/a
48	RELA	chr6:27781507-27783508	GM18505	blood:	n/a	n/a
49	POLR2A	chr6:27780848-27783803	Hela-S3	cervix:	n/a	n/a
50	BCLAF1	chr6:27782372-27783864	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27783331-27783381	U87	brain:	n/a
2	chr6:27783331-27783381	AG09319	gingival:	n/a
3	chr6:27783331-27783381	SAEC	small airway:	n/a
4	chr6:27783331-27783381	LNCaP	prostate:	n/a
5	chr6:27783331-27783381	HCF	heart:	n/a
6	chr6:27783331-27783381	Hela-S3	cervix:	n/a
7	chr6:27783331-27783381	GM12892	blood:	n/a
8	chr6:27783331-27783381	AoSMC	blood vessel:	n/a
9	chr6:27783331-27783381	NT2-D1	testis:	n/a
10	chr6:27783331-27783381	BJ	skin:	n/a
11	chr6:27783331-27783381	SK-N-MC	brain:	n/a
12	chr6:27783331-27783381	NH-A	brain:	n/a
13	chr6:27783331-27783381	AG04450	lung:	fetal
14	chr6:27783331-27783381	ProgFib	skin:	n/a
15	chr6:27783331-27783381	IMR90	lung:	fetal
16	chr6:27783331-27783381	HEK293	kidney:	embryo
17	chr6:27783331-27783381	HCT-116	colon:	n/a
18	chr6:27783331-27783381	RPTEC	kidney:	n/a
19	chr6:27783331-27783381	HL-60	blood:	n/a
20	chr6:27783331-27783381	SKMC	muscle:	n/a
21	chr6:27783331-27783381	MCF-7	breast:	n/a
22	chr6:27783331-27783381	PrEC	prostate:	n/a
23	chr6:27783331-27783381	AG10803	skin:	n/a
24	chr6:27783331-27783381	HRE	kidney:	n/a
25	chr6:27783331-27783381	HepG2	liver:	n/a
26	chr6:27783331-27783381	GM06990	blood:	n/a
27	chr6:27783331-27783381	HUVEC	blood vessel:	n/a
28	chr6:27783331-27783381	K562	blood:	n/a
29	chr6:27783331-27783381	HIPEpiC	eye:	n/a
30	chr6:27783331-27783381	NB4	blood:	n/a
31	chr6:27783331-27783381	HNPCEpiC	eye:	n/a
32	chr6:27783331-27783381	HCPEpiC	choroid plexus:	n/a
33	chr6:27783331-27783381	GM12891	blood:	n/a
34	chr6:27783331-27783381	CMK	blood:	n/a
35	chr6:27783331-27783381	T-47D	breast:	n/a
36	chr6:27783331-27783381	HAEpiC	amniotic membrane:	n/a
37	chr6:27783331-27783381	Hepatocyte	liver:	n/a
38	chr6:27783331-27783381	SK-N-SH_RA	brain:	n/a
39	chr6:27783331-27783381	PANC-1	pancreas:	n/a
40	chr6:27783331-27783381	BE2_C	brain:	n/a
41	chr6:27783331-27783381	HEEpiC	esophagus:	n/a
42	chr6:27783331-27783381	MCF10A-Er-Src	breast:	n/a
43	chr6:27783331-27783381	NHBE	bronchial:	n/a
44	chr6:27783331-27783381	AG09309	skin:	n/a
45	chr6:27783331-27783381	GM19239	blood:	n/a
46	chr6:27783331-27783381	SK-N-SH	brain:	n/a
47	chr6:27783331-27783381	Caco-2	colon:	n/a
48	chr6:27783331-27783381	HCM	heart:	n/a
49	chr6:27783331-27783381	HRPEpiC	eye:	n/a
50	chr6:27783331-27783381	HRCEpiC	kidney:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26122455..26127911-chr6:27777953..27784057,9	MCF-7	breast:
2	chr6:27782776..27783687-chr6:27798847..27799701,2	NB4	blood:
3	chr6:27100161..27102247-chr6:27781053..27784459,3	MCF-7	breast:
4	chr6:26043139..26044932-chr6:27781664..27783621,2	MCF-7	breast:
5	chr5:65439509..65441854-chr6:27782836..27785587,2	MCF-7	breast:
6	chr6:26182173..26185335-chr6:27780962..27783737,3	MCF-7	breast:
7	chr6:26216490..26219190-chr6:27783241..27786059,2	MCF-7	breast:
8	chr6:26155301..26160613-chr6:27781458..27785146,6	MCF-7	breast:
9	chr20:45986636..45989209-chr6:27782881..27785567,2	MCF-7	breast:
10	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
11	chr6:26233018..26235518-chr6:27781228..27784528,3	MCF-7	breast:
12	chr6:27113704..27115641-chr6:27781150..27784385,3	MCF-7	breast:
13	chr6:27111360..27127716-chr6:27768319..27787545,69	MCF-7	breast:
14	chr6:26198554..26201743-chr6:27781165..27784293,4	MCF-7	breast:
15	chr14:64969586..64971373-chr6:27781788..27783642,2	MCF-7	breast:
16	chr6:26020260..26024010-chr6:27780504..27784636,5	MCF-7	breast:
17	chr6:27154833..27157823-chr6:27782934..27785900,2	K562	blood:
18	chr6:27105231..27107098-chr6:27782990..27785264,2	K562	blood:

No data

Variant related genes	Relation type
HIST1H2AJ	TF binding region
HIST1H2AJ	CpG island
ENSG00000218281	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000197697	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000253744	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000234816	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000196226	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000153914	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000124575	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000197409	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs1010261	0.88[CHB][hapmap]
rs1015075	0.85[JPT][hapmap]
rs12174918	0.95[ASN][1000 genomes]
rs13193480	0.83[EUR][1000 genomes]
rs13193542	0.83[EUR][1000 genomes]
rs13194781	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs13195728	0.90[EUR][1000 genomes]
rs13199649	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs13199772	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs13199906	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs13202291	0.81[EUR][1000 genomes]
rs13202295	0.83[EUR][1000 genomes]
rs13210634	0.91[CEU][hapmap]
rs13212318	0.91[CEU][hapmap]
rs13212651	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs13215275	0.91[CEU][hapmap]
rs13216117	0.83[EUR][1000 genomes]
rs13217620	0.91[CEU][hapmap]
rs13218875	0.91[CEU][hapmap]
rs16867962	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs169287	0.85[ASN][1000 genomes]
rs175597	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17693877	1.00[CHB][hapmap]
rs17693963	0.91[CEU][hapmap]
rs17695758	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs17750747	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs17751184	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs17763089	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs183225	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs188015	0.81[EUR][1000 genomes]
rs200466	0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs200469	0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs200471	0.87[ASN][1000 genomes]
rs200473	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs200478	0.87[ASN][1000 genomes]
rs200479	0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs200481	1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs200482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs200483	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs200484	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs200485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs200488	0.98[ASN][1000 genomes]
rs200489	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs200490	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs200493	0.95[EUR][1000 genomes]
rs200497	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs200498	0.93[ASN][1000 genomes]
rs200499	0.91[ASN][1000 genomes]
rs200501	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs200948	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.90[MEX][hapmap];0.96[MKK][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs200949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs200950	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs200952	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs200953	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs200954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs200955	0.92[MKK][hapmap]
rs200959	0.92[MKK][hapmap]
rs200964	0.85[ASN][1000 genomes]
rs200965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs200966	0.85[ASN][1000 genomes]
rs200968	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.87[ASN][1000 genomes]
rs200973	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[ASN][1000 genomes]
rs200974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs200975	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs200976	0.85[ASN][1000 genomes]
rs200977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs200979	0.87[ASN][1000 genomes]
rs200980	0.87[ASN][1000 genomes]
rs200981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs200983	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs200989	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs200990	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs200992	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs200995	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs200996	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs201002	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs201005	0.88[MKK][hapmap]
rs2277104	0.95[ASN][1000 genomes]
rs2394001	0.95[ASN][1000 genomes]
rs28360499	0.81[EUR][1000 genomes]
rs34194357	0.86[EUR][1000 genomes]
rs34295134	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34706883	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs34718920	0.90[EUR][1000 genomes]
rs34788973	0.83[EUR][1000 genomes]
rs35037868	0.83[EUR][1000 genomes]
rs35501037	0.83[EUR][1000 genomes]
rs35819751	0.86[EUR][1000 genomes]
rs36101351	0.83[EUR][1000 genomes]
rs36108923	0.98[ASN][1000 genomes]
rs36116761	0.86[EUR][1000 genomes]
rs370155	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs390764	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs401754	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs401763	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs425335	0.91[CEU][hapmap]
rs45509595	0.86[EUR][1000 genomes]
rs4713122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4713124	0.95[ASN][1000 genomes]
rs4713127	0.91[ASN][1000 genomes]
rs480699	0.80[ASN][1000 genomes]
rs483143	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs493161	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs494887	0.87[ASN][1000 genomes]
rs557042	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56870390	0.98[ASN][1000 genomes]
rs59015666	0.95[ASN][1000 genomes]
rs61742093	0.83[EUR][1000 genomes]
rs666846	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs66868086	0.86[EUR][1000 genomes]
rs67040724	0.83[EUR][1000 genomes]
rs67101035	0.90[EUR][1000 genomes]
rs71559050	0.90[EUR][1000 genomes]
rs71559054	0.83[EUR][1000 genomes]
rs72847313	0.83[EUR][1000 genomes]
rs904142	0.85[JPT][hapmap]
rs9348779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9357052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9368516	0.88[CHB][hapmap]
rs9368531	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368534	0.95[ASN][1000 genomes]
rs9368535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9368536	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9368537	0.85[JPT][hapmap]
rs9380009	0.82[ASN][1000 genomes]
rs9380018	0.93[ASN][1000 genomes]
rs9380026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9380028	0.85[JPT][hapmap]
rs9380030	0.85[JPT][hapmap]
rs9393829	0.88[CHB][hapmap]
rs9393845	0.88[CHB][hapmap]
rs9393854	1.00[CHB][hapmap]
rs9393858	1.00[ASN][1000 genomes]
rs9393862	0.91[ASN][1000 genomes]
rs9468183	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
3	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
4	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
5	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv1017057	chr6:27745777-27789683	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	125 gene(s)	inside rSNPs	diseases
7	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
8	nsv970094	chr6:27782238-27786201	Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	41 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2747054	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs2747054	ZFP57	Cis_chr	lymphoblastoid	RTeQTL
rs2747054	HIST1H4J	cis	lymphoblastoid	seeQTL
rs2747054	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs2747054	BTN3A2	trans	lymphoblastoid	seeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27774400-27784000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:27780200-27784000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:27780400-27783800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:27780800-27784200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:27781000-27783400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:27781000-27784400	Active TSS	Brain Germinal Matrix	brain
7	chr6:27781200-27783600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr6:27781200-27783600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:27781200-27784000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:27781200-27784400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:27781200-27784400	Active TSS	A549	lung
12	chr6:27781600-27783600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:27781600-27783600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:27781600-27783600	Active TSS	Fetal Brain Female	brain
15	chr6:27781600-27783800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:27781600-27784000	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:27781600-27784000	Active TSS	Thymus	Thymus
18	chr6:27781800-27783400	Active TSS	HSMM	muscle
19	chr6:27781800-27783600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:27781800-27784000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:27781800-27784000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:27782000-27783400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:27782000-27783400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:27782000-27783400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:27782000-27783400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:27782000-27783400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:27782000-27783400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
28	chr6:27782000-27783400	Active TSS	Fetal Brain Male	brain
29	chr6:27782000-27783400	Active TSS	Fetal Intestine Small	intestine
30	chr6:27782000-27783400	Bivalent/Poised TSS	Psoas Muscle	Psoas
31	chr6:27782000-27783400	Active TSS	NHDF-Ad	bronchial
32	chr6:27782000-27783800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:27782200-27783400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr6:27782200-27783400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr6:27782200-27783600	Active TSS	NHLF	lung
36	chr6:27782400-27783400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr6:27782400-27783600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
38	chr6:27782800-27783400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:27782800-27783400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr6:27782800-27783400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr6:27782800-27783400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr6:27782800-27783400	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr6:27782800-27783400	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr6:27782800-27783400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr6:27782800-27783400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr6:27782800-27783400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:27782800-27783400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr6:27782800-27783400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr6:27782800-27783400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:27782800-27783400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose

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