Variant report

Variant	esv1832234
Chromosome Location	chr15:77451350-77694607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1349)
CpG islands
(count:1103)
Chromatin interactive
region (count:90)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1349 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:77585572-77585679	K562	blood:	n/a	n/a
2	ARID3A	chr15:77574341-77574376	K562	blood:	n/a	n/a
3	ARID3A	chr15:77574443-77575153	HepG2	liver:	n/a	n/a
4	ARID3A	chr15:77518120-77518344	HepG2	liver:	n/a	n/a
5	ARID3A	chr15:77465871-77466211	HepG2	liver:	n/a	n/a
6	ARID3A	chr15:77598099-77599185	K562	blood:	n/a	n/a
7	ARID3A	chr15:77619354-77619361	K562	blood:	n/a	n/a
8	ARID3A	chr15:77586248-77586518	HepG2	liver:	n/a	n/a
9	ARID3A	chr15:77516712-77516927	HepG2	liver:	n/a	n/a
10	ARID3A	chr15:77476683-77476953	HepG2	liver:	n/a	n/a
11	ARID3A	chr15:77453504-77454008	HepG2	liver:	n/a	n/a
12	ARID3A	chr15:77519171-77519407	HepG2	liver:	n/a	n/a
13	ATF1	chr15:77651320-77651499	K562	blood:	n/a	n/a
14	ATF2	chr15:77473673-77474571	GM12878	blood:	n/a	n/a
15	ATF2	chr15:77471895-77472363	GM12878	blood:	n/a	n/a
16	ATF2	chr15:77664077-77664623	GM12878	blood:	n/a	n/a
17	ATF2	chr15:77664133-77664622	GM12878	blood:	n/a	n/a
18	ATF2	chr15:77473714-77474529	GM12878	blood:	n/a	n/a
19	ATF2	chr15:77478745-77479254	GM12878	blood:	n/a	n/a
20	ATF2	chr15:77480053-77480569	GM12878	blood:	n/a	n/a
21	ATF2	chr15:77480039-77480623	GM12878	blood:	n/a	n/a
22	BACH1	chr15:77559153-77559386	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr15:77684077-77684081	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr15:77574640-77575108	H1-hESC	embryonic stem cell:	n/a	chr15:77574731-77574745
25	BACH1	chr15:77521245-77521298	K562	blood:	n/a	n/a
26	BACH1	chr15:77598380-77598705	K562	blood:	n/a	n/a
27	BATF	chr15:77480189-77480491	GM12878	blood:	n/a	chr15:77480475-77480486
28	BATF	chr15:77664022-77664613	GM12878	blood:	n/a	n/a
29	BATF	chr15:77664176-77664628	GM12878	blood:	n/a	n/a
30	BATF	chr15:77473766-77474494	GM12878	blood:	n/a	n/a
31	BATF	chr15:77473759-77474110	GM12878	blood:	n/a	n/a
32	BATF	chr15:77480117-77480773	GM12878	blood:	n/a	chr15:77480475-77480486
33	BCL11A	chr15:77480101-77480559	GM12878	blood:	n/a	chr15:77480373-77480382
34	BCL11A	chr15:77480174-77480437	GM12878	blood:	n/a	chr15:77480373-77480382
35	BCL11A	chr15:77473780-77474462	GM12878	blood:	n/a	chr15:77474336-77474345
36	BCL11A	chr15:77664186-77664576	GM12878	blood:	n/a	n/a
37	BCL11A	chr15:77473735-77474481	GM12878	blood:	n/a	chr15:77474336-77474345
38	BCLAF1	chr15:77473809-77474506	GM12878	blood:	n/a	chr15:77474336-77474345
39	BCLAF1	chr15:77473682-77474891	GM12878	blood:	n/a	chr15:77474336-77474345
40	BCLAF1	chr15:77480113-77480718	GM12878	blood:	n/a	chr15:77480373-77480382
41	BHLHE40	chr15:77625611-77625697	GM12878	blood:	n/a	n/a
42	BHLHE40	chr15:77471864-77472358	GM12878	blood:	n/a	n/a
43	BHLHE40	chr15:77473606-77474473	GM12878	blood:	n/a	n/a
44	BHLHE40	chr15:77598630-77598824	K562	blood:	n/a	n/a
45	CBX3	chr15:77692609-77692935	K562	blood:	n/a	n/a
46	CBX3	chr15:77687394-77687711	K562	blood:	n/a	n/a
47	CBX3	chr15:77527927-77528457	K562	blood:	n/a	n/a
48	CEBPB	chr15:77518044-77518274	A549	lung:	n/a	chr15:77518207-77518224 chr15:77518080-77518093
49	CEBPB	chr15:77479924-77480751	GM12878	blood:	n/a	n/a
50	CEBPB	chr15:77517496-77517784	HepG2	liver:	n/a	chr15:77517625-77517636

(count:1103 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:77472416-77472466	U87	brain:	n/a
2	chr15:77519170-77519220	RPTEC	kidney:	n/a
3	chr15:77627965-77628015	HL-60	blood:	n/a
4	chr15:77519170-77519220	SK-N-MC	brain:	n/a
5	chr15:77518882-77518932	ovcar-3	ovarian:	n/a
6	chr15:77472416-77472466	U87	brain:	n/a
7	chr15:77519170-77519220	RPTEC	kidney:	n/a
8	chr15:77627965-77628015	HL-60	blood:	n/a
9	chr15:77519170-77519220	SK-N-MC	brain:	n/a
10	chr15:77518882-77518932	ovcar-3	ovarian:	n/a
11	chr15:77577621-77577671	Hela-S3	cervix:	n/a
12	chr15:77645762-77645812	LNCaP	prostate:	n/a
13	chr15:77574588-77574638	NT2-D1	testis:	n/a
14	chr15:77472416-77472466	ovcar-3	ovarian:	n/a
15	chr15:77599761-77599811	HEEpiC	esophagus:	n/a
16	chr15:77574588-77574638	HAEpiC	amniotic membrane:	n/a
17	chr15:77574588-77574638	HCPEpiC	choroid plexus:	n/a
18	chr15:77481069-77481119	SKMC	muscle:	n/a
19	chr15:77568977-77569027	HAEpiC	amniotic membrane:	n/a
20	chr15:77577491-77577541	HCPEpiC	choroid plexus:	n/a
21	chr15:77519170-77519220	NHBE	bronchial:	n/a
22	chr15:77574588-77574638	T-47D	breast:	n/a
23	chr15:77601643-77601693	AG10803	skin:	n/a
24	chr15:77472416-77472466	H1-hESC	embryonic stem cell:	embryo
25	chr15:77574588-77574638	GM12891	blood:	n/a
26	chr15:77570797-77570847	HMEC	breast:	n/a
27	chr15:77574588-77574638	AG10803	skin:	n/a
28	chr15:77481069-77481119	LNCaP	prostate:	n/a
29	chr15:77643229-77643279	HCPEpiC	choroid plexus:	n/a
30	chr15:77518882-77518932	GM06990	blood:	n/a
31	chr15:77481069-77481119	MCF10A-Er-Src	breast:	n/a
32	chr15:77574588-77574638	HNPCEpiC	eye:	n/a
33	chr15:77460576-77460626	AG09319	gingival:	n/a
34	chr15:77472416-77472466	Jurkat	blood:	n/a
35	chr15:77519170-77519220	HNPCEpiC	eye:	n/a
36	chr15:77577533-77577583	HEEpiC	esophagus:	n/a
37	chr15:77645762-77645812	SK-N-SH_RA	brain:	n/a
38	chr15:77643229-77643279	HCF	heart:	n/a
39	chr15:77518882-77518932	SK-N-MC	brain:	n/a
40	chr15:77472416-77472466	RPTEC	kidney:	n/a
41	chr15:77472416-77472466	HCPEpiC	choroid plexus:	n/a
42	chr15:77577491-77577541	PFSK-1	brain:	n/a
43	chr15:77577621-77577671	HCF	heart:	n/a
44	chr15:77601643-77601693	ovcar-3	ovarian:	n/a
45	chr15:77519170-77519220	Hela-S3	cervix:	n/a
46	chr15:77577491-77577541	Jurkat	blood:	n/a
47	chr15:77627965-77628015	CMK	blood:	n/a
48	chr15:77570797-77570847	LNCaP	prostate:	n/a
49	chr15:77568977-77569027	HRPEpiC	eye:	n/a
50	chr15:77601643-77601693	GM12878	blood:	n/a

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr15:77664650..77667027-chr15:77668705..77670946,2	K562	blood:
2	chr15:77585431..77587225-chr15:77589534..77592219,2	K562	blood:
3	chr15:77639539..77641421-chr15:77670535..77672553,2	MCF-7	breast:
4	chr15:77669352..77671536-chr15:77687037..77689234,2	K562	blood:
5	chr15:77642108..77645078-chr15:77646061..77648111,2	K562	blood:
6	chr15:77665097..77667571-chr15:77669076..77671789,2	MCF-7	breast:
7	chr15:77662346..77663859-chr15:77693628..77695822,2	K562	blood:
8	chr15:77478477..77479489-chr15:77788948..77789811,5	MCF-7	breast:
9	chr15:77478643..77479505-chr15:77841305..77841919,2	K562	blood:
10	chr15:77603476..77605050-chr15:77627091..77629724,2	K562	blood:
11	chr15:77543946..77545839-chr15:77577547..77579797,2	MCF-7	breast:
12	chr15:77496480..77498280-chr15:77514444..77516780,2	MCF-7	breast:
13	chr15:77361812..77363469-chr15:77500404..77502619,2	K562	blood:
14	chr15:77580009..77582319-chr15:77583158..77585492,2	K562	blood:
15	chr15:77655192..77657541-chr15:77711293..77713593,2	K562	blood:
16	chr15:77676422..77679960-chr15:77680439..77684994,6	K562	blood:
17	chr15:77642843..77646097-chr15:77710944..77713266,3	MCF-7	breast:
18	chr15:77571666..77575195-chr15:77579317..77581859,3	K562	blood:
19	chr15:77671092..77674187-chr15:77674414..77677871,3	K562	blood:
20	chr15:77587934..77589441-chr15:77592568..77594190,2	K562	blood:
21	chr15:77576555..77578246-chr15:77578519..77580387,2	K562	blood:
22	chr15:77693123..77695708-chr15:77711295..77713388,2	MCF-7	breast:
23	chr15:77516325..77519134-chr15:77521880..77523440,2	K562	blood:
24	chr15:77619982..77622270-chr15:77624523..77628155,3	K562	blood:
25	chr15:77478458..77479486-chr15:77835010..77836461,5	MCF-7	breast:
26	chr15:77478749..77480015-chr15:77788873..77789807,7	MCF-7	breast:
27	chr15:77665097..77667571-chr15:77669076..77671789,2	MCF-7	breast:
28	chr15:77533789..77536624-chr15:77711955..77714562,2	MCF-7	breast:
29	chr15:77694198..77696717-chr15:77702430..77705235,2	K562	blood:
30	chr15:77449030..77451156-chr15:77452174..77453774,3	MCF-7	breast:
31	chr15:77631784..77633576-chr15:77635603..77638413,2	MCF-7	breast:
32	chr15:77473814..77475329-chr15:77479413..77480956,2	K562	blood:
33	chr15:77583990..77586060-chr15:77594625..77596162,2	K562	blood:
34	chr15:77461714..77464507-chr15:77477609..77479854,2	K562	blood:
35	chr15:77573695..77576435-chr15:77580239..77581887,3	K562	blood:
36	chr15:77669352..77671536-chr15:77687037..77689234,2	K562	blood:
37	chr15:77478486..77479274-chr15:77925458..77926114,2	MCF-7	breast:
38	chr15:77567760..77570371-chr15:77619185..77622166,2	MCF-7	breast:
39	chr15:77587677..77589850-chr15:77710277..77712592,2	K562	blood:
40	chr15:77639539..77641421-chr15:77670535..77672553,2	MCF-7	breast:
41	chr15:77567007..77569663-chr15:77575337..77577656,2	K562	blood:
42	chr15:77530227..77531754-chr15:77544037..77546169,2	MCF-7	breast:
43	chr15:77540284..77542372-chr15:77710056..77712718,2	K562	blood:
44	chr15:76134586..76136640-chr15:77552323..77554009,2	MCF-7	breast:
45	chr15:77587941..77589755-chr15:77592690..77595045,2	K562	blood:
46	chr15:77571666..77575195-chr15:77579317..77581859,3	K562	blood:
47	chr15:77585431..77587225-chr15:77589534..77592219,2	K562	blood:
48	chr15:77477542..77479471-chr15:77711418..77713523,2	MCF-7	breast:
49	chr15:77473814..77475329-chr15:77479413..77480956,2	K562	blood:
50	chr15:77638441..77642462-chr15:77643607..77648540,6	MCF-7	breast:

(count:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PEAK1.1-1	chr15:77544841-77544868	NONHSAT047432
2	lnc-PEAK1.1-1	chr15:77578765-77578846	NONHSAT047430
3	lnc-PEAK1.1-1	chr15:77578765-77578846	NONHSAT047427
4	lnc-PEAK1.1-1	chr15:77578765-77578846	NONHSAT047432
5	lnc-PEAK1.1-1	chr15:77577300-77577420	NONHSAT047432
6	lnc-PEAK1.1-1	chr15:77578765-77578846	NONHSAT047431
7	lnc-PSTPIP1-3	chr15:77496920-77496976	NONHSAT047428
8	lnc-PEAK1.1-1	chr15:77544709-77544868	NONHSAT047427
9	lnc-PEAK1.1-1	chr15:77577300-77577397	NONHSAT047431
10	lnc-PEAK1.1-1	chr15:77576225-77576372	NONHSAT047432
11	lnc-PEAK1.1-1	chr15:77657505-77657567	XLOC_011535
12	lnc-PEAK1.1-1	chr15:77638884-77638973	NONHSAT047431
13	lnc-PSTPIP1-3	chr15:77497255-77497442	NONHSAT047428
14	lnc-PEAK1.1-1	chr15:77657505-77657567	NONHSAT047432
15	lnc-PEAK1.1-1	chr15:77578760-77578846	XLOC_011535
16	lnc-PEAK1.1-1	chr15:77544821-77544868	NONHSAT047431
17	lnc-PEAK1.1-1	chr15:77576225-77576372	NONHSAT047430
18	lnc-PEAK1.1-1	chr15:77577300-77577442	NONHSAT047435
19	lnc-PEAK1.1-1	chr15:77576225-77576372	NONHSAT047431
20	lnc-PEAK1.1-1	chr15:77577300-77577420	NONHSAT047427
21	lnc-PEAK1.1-1	chr15:77657505-77657567	XLOC_011535
22	lnc-PEAK1.1-1	chr15:77649433-77649441	XLOC_011535
23	lnc-TSPAN3-4	chr15:77516250-77517746	NONHSAT047429
24	lnc-PEAK1.1-1	chr15:77576104-77576372	NONHSAT047435
25	lnc-PEAK1.1-1	chr15:77474321-77474382	NONHSAT047427
26	lnc-PEAK1.1-1	chr15:77544764-77544868	NONHSAT047430
27	lnc-PEAK1.1-1	chr15:77577300-77577420	NONHSAT047430
28	lnc-PEAK1.1-1	chr15:77578764-77578846	XLOC_011535

No data

Variant related genes	Relation type
ENSG00000259722	TF binding region
PEAK1	TF binding region
ENSG00000230459	TF binding region
ENSG00000259722	CpG island
PEAK1	CpG island
ENSG00000230459	CpG island
ENSG00000173517	chromatin interactions
ENSG00000140367	chromatin interactions
ENSG00000259722	chromatin interactions
ENSG00000140391	chromatin interactions
ENSG00000140382	chromatin interactions
NCOA3	miRNA target sites
B4GALT1	miRNA target sites

Extended variants
information (count: 8418 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:8418 , 50 per page) page: 1 2 3 4 5 6 7 ... 169

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12910419	chr15:77451350-77451351	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568443007	chr15:77451396-77451397	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145563198	chr15:77451473-77451474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148909998	chr15:77451487-77451488	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143594750	chr15:77451556-77451557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558849175	chr15:77451575-77451576	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114892511	chr15:77451604-77451605	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540702660	chr15:77451615-77451616	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375898967	chr15:77451658-77451659	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574106182	chr15:77451664-77451665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541415707	chr15:77451665-77451666	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148302518	chr15:77451792-77451793	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184778226	chr15:77451801-77451802	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546016105	chr15:77451979-77451980	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs146193416	chr15:77451981-77451982	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs542127657	chr15:77451995-77451996	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7496431	chr15:77452054-77452055	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs372754468	chr15:77452163-77452164	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs532702406	chr15:77452199-77452200	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs116324212	chr15:77452257-77452258	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs369540275	chr15:77452281-77452282	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs530569202	chr15:77452283-77452284	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs559842084	chr15:77452293-77452294	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs528300554	chr15:77452352-77452353	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs530118552	chr15:77452376-77452377	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs548258441	chr15:77452377-77452378	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570341466	chr15:77452433-77452434	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs543801713	chr15:77452511-77452512	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs537329036	chr15:77452547-77452548	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs78014975	chr15:77452601-77452602	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs563695151	chr15:77452615-77452616	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs4886512	chr15:77452657-77452658	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188000893	chr15:77452658-77452659	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs552655000	chr15:77452661-77452662	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs574168253	chr15:77452733-77452734	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs147062380	chr15:77452784-77452785	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs556669742	chr15:77452790-77452791	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs192870668	chr15:77452791-77452792	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs545778038	chr15:77452804-77452805	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs138352847	chr15:77452829-77452830	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs573082284	chr15:77452848-77452849	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs199679386	chr15:77452858-77452859	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs375804757	chr15:77452859-77452860	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185448803	chr15:77452896-77452897	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs143910156	chr15:77452901-77452902	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs546257288	chr15:77452931-77452932	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs367985591	chr15:77452966-77452967	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs530102156	chr15:77453012-77453013	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs200819592	chr15:77453045-77453046	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs548596916	chr15:77453054-77453055	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD

Chromatin state (count:3445 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77426000-77452400	Weak transcription	Pancreas	Pancrea
2	chr15:77426200-77453200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:77427600-77460600	Weak transcription	Right Ventricle	heart
4	chr15:77434200-77460400	Weak transcription	Fetal Brain Male	brain
5	chr15:77436000-77457800	Weak transcription	Spleen	Spleen
6	chr15:77437000-77451600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:77437000-77451800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:77437000-77471200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:77437600-77453400	Weak transcription	HMEC	breast
10	chr15:77438000-77453200	Weak transcription	Fetal Heart	heart
11	chr15:77438000-77453400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:77438400-77461000	Weak transcription	NH-A	brain
13	chr15:77438600-77457600	Weak transcription	Gastric	stomach
14	chr15:77438600-77461400	Weak transcription	Aorta	Aorta
15	chr15:77438600-77469000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:77438600-77470800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:77439800-77460600	Weak transcription	HSMMtube	muscle
18	chr15:77440200-77453000	Weak transcription	Fetal Kidney	kidney
19	chr15:77444200-77460600	Weak transcription	NHEK	skin
20	chr15:77445200-77461000	Weak transcription	Small Intestine	intestine
21	chr15:77446400-77454600	Weak transcription	Esophagus	oesophagus
22	chr15:77447800-77453800	Weak transcription	K562	blood
23	chr15:77447800-77456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:77448000-77452400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:77448200-77452400	Weak transcription	Fetal Thymus	thymus
26	chr15:77448200-77457400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:77448400-77452000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:77448600-77451400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:77448600-77452400	Weak transcription	Lung	lung
30	chr15:77448800-77452000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:77448800-77452200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr15:77448800-77452200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:77448800-77453000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr15:77449000-77451800	Weak transcription	Fetal Intestine Small	intestine
35	chr15:77449000-77465200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:77449200-77451400	Strong transcription	Primary B cells from cord blood	blood
37	chr15:77449200-77451400	Strong transcription	NHDF-Ad	bronchial
38	chr15:77449200-77451600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr15:77449200-77452000	Strong transcription	Osteobl	bone
40	chr15:77449400-77452600	Weak transcription	HepG2	liver
41	chr15:77449600-77453600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:77449800-77453200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr15:77450000-77451400	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr15:77450000-77452400	Weak transcription	Fetal Stomach	stomach
45	chr15:77450000-77453200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:77450000-77453400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:77450000-77453400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr15:77450000-77455200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:77450000-77458000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:77450000-77460600	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links