Variant report

Variant	nsv1067663
Chromosome Location	chr6:53796341-54449718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3145)
CpG islands
(count:1647)
Chromatin interactive
region (count:73)
LncRNA
region (count:64)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3145 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:53875777-53876095	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:54000571-54001192	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:53844331-53844616	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:53873793-53874425	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:54069594-54070159	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:54172209-54172486	HepG2	liver:	n/a	n/a
7	ARID3A	chr6:53962447-53962872	HepG2	liver:	n/a	n/a
8	ATF1	chr6:53844317-53844517	K562	blood:	n/a	n/a
9	ATF3	chr6:54284763-54285026	HCT-116	colon:	n/a	n/a
10	ATF3	chr6:54200535-54201147	HCT-116	colon:	n/a	n/a
11	BACH1	chr6:54058558-54059138	H1-hESC	embryonic stem cell:	n/a	chr6:54059004-54059018
12	BACH1	chr6:54402647-54402686	K562	blood:	n/a	n/a
13	BACH1	chr6:53854926-53854932	K562	blood:	n/a	n/a
14	BACH1	chr6:54356311-54356514	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr6:53936826-53937112	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr6:53968321-53968664	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr6:53968331-53968637	K562	blood:	n/a	n/a
18	BACH1	chr6:54432582-54432614	K562	blood:	n/a	n/a
19	BATF	chr6:54155961-54156168	GM12878	blood:	n/a	chr6:54156063-54156074
20	BATF	chr6:54156610-54156773	GM12878	blood:	n/a	n/a
21	BATF	chr6:54155936-54156220	GM12878	blood:	n/a	chr6:54156063-54156074
22	BATF	chr6:54156506-54156868	GM12878	blood:	n/a	chr6:54156793-54156803
23	BCL11A	chr6:54156528-54156850	GM12878	blood:	n/a	n/a
24	BCL3	chr6:54284720-54284971	GM12878	blood:	n/a	n/a
25	BHLHE40	chr6:53972403-53972554	HepG2	liver:	n/a	chr6:53972454-53972463 chr6:53972454-53972463 chr6:53972455-53972464 chr6:53972448-53972469
26	BHLHE40	chr6:54293297-54293546	GM12878	blood:	n/a	n/a
27	BHLHE40	chr6:53821056-53821110	GM12878	blood:	n/a	n/a
28	BHLHE40	chr6:54069664-54070249	HepG2	liver:	n/a	n/a
29	BHLHE40	chr6:53820970-53821025	K562	blood:	n/a	n/a
30	BHLHE40	chr6:53962611-53962857	HepG2	liver:	n/a	n/a
31	BHLHE40	chr6:53803683-53803782	GM12878	blood:	n/a	n/a
32	BRCA1	chr6:53820946-53821169	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr6:54200670-54201342	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr6:53821001-53821197	HepG2	liver:	n/a	n/a
35	BRCA1	chr6:54424810-54424911	H1-hESC	embryonic stem cell:	n/a	n/a
36	BRCA1	chr6:53918522-53919323	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr6:54279601-54279694	Hela-S3	cervix:	n/a	n/a
38	CBX3	chr6:54088139-54088509	HCT-116	colon:	n/a	n/a
39	CBX3	chr6:54200558-54201142	HCT-116	colon:	n/a	n/a
40	CBX3	chr6:54231293-54231939	HCT-116	colon:	n/a	n/a
41	CBX3	chr6:53820768-53821441	HCT-116	colon:	n/a	n/a
42	CBX3	chr6:54357824-54358432	HCT-116	colon:	n/a	n/a
43	CBX3	chr6:54058831-54059364	HCT-116	colon:	n/a	n/a
44	CBX3	chr6:53848828-53849720	HCT-116	colon:	n/a	n/a
45	CBX3	chr6:53918781-53919330	HCT-116	colon:	n/a	n/a
46	CBX3	chr6:54231362-54231845	HCT-116	colon:	n/a	n/a
47	CBX3	chr6:53848913-53849594	HCT-116	colon:	n/a	n/a
48	CEBPB	chr6:54000759-54001219	ECC-1	luminal epithelium:	n/a	chr6:54001140-54001152
49	CEBPB	chr6:53875207-53875484	Hela-S3	cervix:	n/a	chr6:53875355-53875366 chr6:53875353-53875364 chr6:53875353-53875366 chr6:53875355-53875366 chr6:53875353-53875366 chr6:53875353-53875366 chr6:53875350-53875367
50	CEBPB	chr6:53902252-53902560	HepG2	liver:	n/a	chr6:53902381-53902392

(count:1647 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:54156824-54156874	GM12892	blood:	n/a
2	chr6:54001868-54001918	HUVEC	blood vessel:	n/a
3	chr6:54058452-54058502	AoSMC	blood vessel:	n/a
4	chr6:54001895-54001945	MCF10A-Er-Src	breast:	n/a
5	chr6:54173316-54173366	NB4	blood:	n/a
6	chr6:54328858-54328908	T-47D	breast:	n/a
7	chr6:54172183-54172233	NHBE	bronchial:	n/a
8	chr6:53851924-53851974	HL-60	blood:	n/a
9	chr6:53851924-53851974	IMR90	lung:	fetal
10	chr6:54131017-54131067	SK-N-SH	brain:	n/a
11	chr6:53950838-53950888	ECC-1	luminal epithelium:	n/a
12	chr6:54001868-54001918	NHDF-neo	bronchial:	n/a
13	chr6:53919041-53919091	LNCaP	prostate:	n/a
14	chr6:53808789-53808839	GM12891	blood:	n/a
15	chr6:54173316-54173366	HepG2	liver:	n/a
16	chr6:54131017-54131067	HCF	heart:	n/a
17	chr6:53826994-53827044	PANC-1	pancreas:	n/a
18	chr6:53882926-53882976	SK-N-SH_RA	brain:	n/a
19	chr6:53832593-53832643	HMEC	breast:	n/a
20	chr6:53883752-53883802	BJ	skin:	n/a
21	chr6:53919041-53919091	HCT-116	colon:	n/a
22	chr6:53883752-53883802	PANC-1	pancreas:	n/a
23	chr6:53950838-53950888	AoSMC	blood vessel:	n/a
24	chr6:54254826-54254876	A549	lung:	n/a
25	chr6:53826994-53827044	AoSMC	blood vessel:	n/a
26	chr6:53919041-53919091	RPTEC	kidney:	n/a
27	chr6:53939321-53939371	NH-A	brain:	n/a
28	chr6:53826994-53827044	LNCaP	prostate:	n/a
29	chr6:53826994-53827044	T-47D	breast:	n/a
30	chr6:54131017-54131067	BJ	skin:	n/a
31	chr6:53808789-53808839	RPTEC	kidney:	n/a
32	chr6:53883752-53883802	K562	blood:	n/a
33	chr6:53832593-53832643	K562	blood:	n/a
34	chr6:54131017-54131067	AG04450	lung:	fetal
35	chr6:54127349-54127399	HEK293	kidney:	embryo
36	chr6:54156824-54156874	SK-N-SH_RA	brain:	n/a
37	chr6:54001868-54001918	PrEC	prostate:	n/a
38	chr6:54328858-54328908	AG09309	skin:	n/a
39	chr6:53883681-53883731	PANC-1	pancreas:	n/a
40	chr6:53882926-53882976	HNPCEpiC	eye:	n/a
41	chr6:54172378-54172428	Hela-S3	cervix:	n/a
42	chr6:54254826-54254876	K562	blood:	n/a
43	chr6:53851924-53851974	ovcar-3	ovarian:	n/a
44	chr6:54131017-54131067	NT2-D1	testis:	n/a
45	chr6:54058452-54058502	ovcar-3	ovarian:	n/a
46	chr6:53919041-53919091	BE2_C	brain:	n/a
47	chr6:53883888-53883938	NB4	blood:	n/a
48	chr6:53919041-53919091	HMEC	breast:	n/a
49	chr6:53883752-53883802	HEK293	kidney:	embryo
50	chr6:54172997-54173047	HCF	heart:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:54108891..54109489-chr6:54132720..54133570,3	MCF-7	breast:
2	chr6:53918180..53920698-chr6:53921750..53923879,2	K562	blood:
3	chr6:53850715..53851537-chr6:54132516..54133234,3	MCF-7	breast:
4	chr6:53794903..53796412-chr6:53797970..53799605,2	K562	blood:
5	chr6:54138591..54140623-chr6:54150378..54152513,2	MCF-7	breast:
6	chr6:53791111..53793110-chr6:53802444..53804078,2	MCF-7	breast:
7	chr6:53857425..53857943-chr6:53933277..53933955,2	MCF-7	breast:
8	chr6:53844122..53844911-chr6:54132533..54133159,2	MCF-7	breast:
9	chr6:53847388..53848999-chr6:53852029..53854591,2	K562	blood:
10	chr5:82726389..82726918-chr6:53820685..53821483,2	MCF-7	breast:
11	chr6:53802203..53805380-chr6:53806061..53808380,3	K562	blood:
12	chr6:53658805..53659598-chr6:53820598..53821414,3	MCF-7	breast:
13	chr6:53798317..53800488-chr6:53802970..53804501,2	MCF-7	breast:
14	chr6:53819656..53822349-chr6:53824906..53826764,2	K562	blood:
15	chr6:54239793..54241712-chr6:54244311..54245976,2	MCF-7	breast:
16	chr6:54143853..54145479-chr6:54145535..54148075,2	K562	blood:
17	chr6:53805147..53806830-chr6:53806869..53810156,3	MCF-7	breast:
18	chr6:54250978..54253931-chr6:54256831..54259813,2	MCF-7	breast:
19	chr6:54433346..54436074-chr6:54443412..54445005,2	MCF-7	breast:
20	chr6:54383919..54385673-chr6:54387884..54389679,2	MCF-7	breast:
21	chr6:53918180..53920698-chr6:53921750..53923879,2	K562	blood:
22	chr6:53657156..53661556-chr6:53818484..53821227,4	MCF-7	breast:
23	chr6:53819656..53822349-chr6:53824906..53826764,2	K562	blood:
24	chr6:53900354..53903292-chr6:53906987..53909749,2	K562	blood:
25	chr6:53900838..53902850-chr6:53908352..53911031,2	MCF-7	breast:
26	chr6:54334351..54336130-chr6:54337919..54340373,2	MCF-7	breast:
27	chr6:53906223..53908001-chr6:53910577..53912492,2	K562	blood:
28	chr6:53516494..53516995-chr6:53819555..53820055,2	Hela-S3	cervix:
29	chr6:54383919..54385673-chr6:54387884..54389679,2	MCF-7	breast:
30	chr1:217200941..217201873-chr6:54053550..54054293,2	MCF-7	breast:
31	chr17:56708364..56710438-chr6:54107125..54109891,2	MCF-7	breast:
32	chr6:53658811..53659800-chr6:53820598..53821505,10	MCF-7	breast:
33	chr6:53657866..53662110-chr6:53819817..53822603,6	MCF-7	breast:
34	chr6:53583327..53584025-chr6:53820811..53821451,2	MCF-7	breast:
35	chr6:54108947..54109656-chr6:54132424..54133064,2	MCF-7	breast:
36	chr6:54433346..54436074-chr6:54443412..54445005,2	MCF-7	breast:
37	chr6:53802203..53805380-chr6:53806061..53808380,3	K562	blood:
38	chr6:53850708..53851695-chr6:54108679..54109745,3	MCF-7	breast:
39	chr6:53857425..53857943-chr6:53933277..53933955,2	MCF-7	breast:
40	chr6:53992281..53994885-chr6:54000066..54003038,2	MCF-7	breast:
41	chr6:54250978..54253931-chr6:54256831..54259813,2	MCF-7	breast:
42	chr6:54337437..54340096-chr6:54340126..54342389,2	MCF-7	breast:
43	chr6:54438796..54440751-chr6:54452137..54454145,2	MCF-7	breast:
44	chr6:54239793..54241712-chr6:54244311..54245976,2	MCF-7	breast:
45	chr6:53850708..53851695-chr6:54108679..54109745,3	MCF-7	breast:
46	chr6:53909795..53912319-chr6:53912948..53915242,2	MCF-7	breast:
47	chr6:53805147..53806830-chr6:53806869..53810156,3	MCF-7	breast:
48	chr6:53593244..53593769-chr6:53820705..53821237,2	MCF-7	breast:
49	chr6:54164489..54166885-chr6:54172521..54174692,2	MCF-7	breast:
50	chr6:54334351..54336130-chr6:54337919..54340373,2	MCF-7	breast:

(count:64 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL31-3	chr6:53911717-53911957	ENSG00000235050.1
2	lnc-KLHL31-3	chr6:53912288-53912392	ENSG00000235050.2
3	lnc-LRRC1-1	chr6:53859762-53862465	ENSG00000236740.2
4	lnc-KLHL31-3	chr6:53911899-53911957	ENSG00000235050.2
5	lnc-KLHL31-10	chr6:53927195-53927695	NONHSAT113220
6	lnc-KLHL31-3	chr6:53894172-53894249	ENSG00000235050.2
7	lnc-KLHL31-3	chr6:53897175-53897234	ENSG00000235050.2
8	lnc-LRRC1-2	chr6:53867412-53867517	XLOC_005329
9	lnc-LRRC1-9	chr6:53971647-53971816	NONHSAT113221
10	lnc-LRRC1-2	chr6:53871769-53871950	XLOC_005329
11	lnc-KLHL31-3	chr6:53896201-53896499	ENSG00000235050.2
12	lnc-KLHL31-3	chr6:53905839-53905871	ENSG00000235050.2
13	lnc-KLHL31-3	chr6:53912288-53912392	ENSG00000235050.2
14	lnc-KLHL31-3	chr6:53923720-53923768	ENSG00000235050.2
15	lnc-KLHL31-3	chr6:53912090-53912392	ENSG00000235050.2
16	lnc-KLHL31-3	chr6:53912090-53912392	ENSG00000235050.2
17	lnc-LRRC1-8	chr6:53967547-53967621	NONHSAT113215
18	lnc-KLHL31-3	chr6:53944324-53944524	ENSG00000235050.2
19	lnc-KLHL31-3	chr6:53895417-53895457	ENSG00000235050.2
20	lnc-LRRC1-8	chr6:53967721-53970052	NONHSAT113215
21	lnc-KLHL31-3	chr6:53912090-53912212	ENSG00000235050.2
22	lnc-KLHL31-3	chr6:53897175-53897234	ENSG00000235050.2
23	lnc-LRRC1-8	chr6:53967721-53970422	ucscGeneNc_uc003pce_2
24	lnc-KLHL31-3	chr6:53912090-53912232	ENSG00000235050.2
25	lnc-KLHL31-3	chr6:53896405-53896499	ENSG00000235050.2
26	lnc-KLHL31-3	chr6:53896405-53896499	ENSG00000235050.2
27	lnc-KLHL31-3	chr6:53912311-53912392	ENSG00000235050.2
28	lnc-KLHL31-3	chr6:53897175-53897234	ENSG00000235050.2
29	lnc-KLHL31-3	chr6:53908150-53908225	ENSG00000235050.2
30	lnc-KLHL31-3	chr6:53911435-53911957	ENSG00000235050.2
31	lnc-KLHL31-3	chr6:53897175-53897234	ENSG00000235050.2
32	lnc-KLHL31-3	chr6:53910205-53910623	ENSG00000235050.2
33	lnc-LRRC1-1	chr6:53847556-53847648	ENSG00000236740.2
34	lnc-KLHL31-10	chr6:53927754-53927853	NONHSAT113220
35	lnc-LRRC1-9	chr6:53979728-53979909	NONHSAT113221
36	lnc-KLHL31-3	chr6:53895430-53895457	ENSG00000235050.2
37	lnc-KLHL31-3	chr6:53893976-53894249	ENSG00000235050.2
38	lnc-KLHL31-3	chr6:53893975-53894249	ENSG00000235050.2
39	lnc-KLHL31-3	chr6:53896405-53896499	ENSG00000235050.2
40	lnc-LRRC1-8	chr6:53967547-53967621	ucscGeneNc_uc003pce_2
41	lnc-KLHL31-9	chr6:53881277-53881575	NONHSAT113209
42	lnc-LRRC1-8	chr6:53955515-53955607	NONHSAT113215
43	lnc-KLHL31-3	chr6:53912090-53912392	ENSG00000235050.2
44	lnc-KLHL31-3	chr6:53910336-53910623	ENSG00000235050.2
45	lnc-KLHL31-3	chr6:53908150-53908225	ENSG00000235050.2
46	lnc-LRRC1-8	chr6:53955515-53955607	ucscGeneNc_uc003pce_2
47	lnc-KLHL31-4	chr6:54234709-54234769	ENSG00000228231.2
48	lnc-KLHL31-3	chr6:53896405-53896499	ENSG00000235050.2
49	lnc-LRRC1-1	chr6:53847556-53847648	ENSG00000236740.2
50	lnc-LRRC1-2	chr6:53865708-53865892	XLOC_005329

No data

Variant related genes	Relation type
MLIP-AS1	TF binding region
MLIP-IT1	TF binding region
ERHP2	TF binding region
CLNS1AP1	TF binding region
ENSG00000228231	TF binding region
TINAG	TF binding region
MLIP	TF binding region
MLIP-AS1	CpG island
MLIP-IT1	CpG island
ERHP2	CpG island
CLNS1AP1	CpG island
ENSG00000228231	CpG island
TINAG	CpG island
MLIP	CpG island
ENSG00000218143	chromatin interactions
ENSG00000137269	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000137251	chromatin interactions
ENSG00000228614	chromatin interactions
ENSG00000228231	chromatin interactions
ENSG00000235050	chromatin interactions
GCH1	miRNA target sites
HTRA3	miRNA target sites
MBNL1	miRNA target sites
ARPP21	miRNA target sites

Extended variants
information (count: 21285 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:21285 , 50 per page) page: 1 2 3 4 5 6 7 ... 426

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2745460	chr6:53796373-53796374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559353297	chr6:53796402-53796403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183904319	chr6:53796458-53796459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552535200	chr6:53796469-53796470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371476251	chr6:53796485-53796486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541046307	chr6:53796560-53796561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368742274	chr6:53796649-53796650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146746627	chr6:53796667-53796668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533242869	chr6:53796682-53796683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549816795	chr6:53796693-53796694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569936822	chr6:53796783-53796784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187277658	chr6:53796791-53796792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549685004	chr6:53796831-53796832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372081144	chr6:53796842-53796843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566218931	chr6:53796846-53796847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534660056	chr6:53796863-53796864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115354768	chr6:53796880-53796881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571218952	chr6:53796926-53796927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537148957	chr6:53797006-53797007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140417511	chr6:53797007-53797008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573898854	chr6:53797015-53797016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542444006	chr6:53797076-53797077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559370691	chr6:53797112-53797113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561845422	chr6:53797153-53797154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190928398	chr6:53797166-53797167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573053133	chr6:53797171-53797172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34191181	chr6:53797196-53797197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182197909	chr6:53797215-53797216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186928185	chr6:53797216-53797217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533127664	chr6:53797221-53797222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543525628	chr6:53797250-53797251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528140111	chr6:53797251-53797252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538040440	chr6:53797313-53797314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563425941	chr6:53797342-53797343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144087960	chr6:53797352-53797353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146493688	chr6:53797436-53797437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55687765	chr6:53797472-53797473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397779692	chr6:53797473-53797474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201041900	chr6:53797477-53797478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530665461	chr6:53797529-53797530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2745461	chr6:53797560-53797561	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs9464004	chr6:53797663-53797664	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571286812	chr6:53797675-53797676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140496086	chr6:53797692-53797693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550731887	chr6:53797779-53797780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201481619	chr6:53797782-53797783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72506340	chr6:53797786-53797787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202004078	chr6:53797787-53797788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191753932	chr6:53797857-53797858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111854860	chr6:53797866-53797867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:2685 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53772000-53803000	Weak transcription	Lung	lung
2	chr6:53787800-53807800	Weak transcription	Aorta	Aorta
3	chr6:53787800-53810800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:53790600-53797200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:53790600-53798000	Weak transcription	Fetal Thymus	thymus
6	chr6:53792800-53796600	Weak transcription	Placenta	Placenta
7	chr6:53792800-53797800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:53793000-53799200	Weak transcription	HSMMtube	muscle
9	chr6:53793600-53797000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:53794600-53801000	Weak transcription	Dnd41	blood
11	chr6:53794600-53807800	Weak transcription	Left Ventricle	heart
12	chr6:53794800-53803200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:53794800-53815600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:53795000-53797200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:53795000-53797200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:53795200-53797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:53795200-53797200	Weak transcription	Fetal Intestine Small	intestine
18	chr6:53795200-53797600	Weak transcription	Small Intestine	intestine
19	chr6:53795200-53799200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:53795200-53803800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:53795200-53807400	Weak transcription	Fetal Stomach	stomach
22	chr6:53795400-53799200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:53795600-53826200	Weak transcription	NHEK	skin
24	chr6:53795800-53796400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:53795800-53803000	Weak transcription	Esophagus	oesophagus
26	chr6:53797000-53797200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr6:53797000-53798200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:53797200-53797400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:53797200-53797400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr6:53797200-53797600	Enhancers	Duodenum Mucosa	Duodenum
31	chr6:53797200-53797800	Enhancers	Fetal Intestine Small	intestine
32	chr6:53797400-53797800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:53797600-53797800	Enhancers	Small Intestine	intestine
34	chr6:53797800-53798000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr6:53797800-53798200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:53798000-53798200	Enhancers	Fetal Thymus	thymus
37	chr6:53798000-53798600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:53798200-53798800	Weak transcription	Fetal Thymus	thymus
39	chr6:53798200-53799200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:53798600-53798800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr6:53799200-53799400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:53799200-53799800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:53799200-53799800	Strong transcription	HSMMtube	muscle
44	chr6:53799800-53803200	Weak transcription	HSMMtube	muscle
45	chr6:53799800-53810600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:53801000-53803000	Enhancers	Dnd41	blood
47	chr6:53801400-53802200	Enhancers	Fetal Heart	heart
48	chr6:53803000-53803200	Enhancers	Lung	lung
49	chr6:53803000-53803200	Flanking Active TSS	Dnd41	blood
50	chr6:53803000-53803400	Enhancers	Esophagus	oesophagus

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