Variant report

Variant	nsv872159
Chromosome Location	chr1:113252091-113265819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1087)
CpG islands
(count:2015)
Chromatin interactive
region (count:49)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1087 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:113258629-113259125	HepG2	liver:	n/a	n/a
2	BACH1	chr1:113261364-113261484	K562	blood:	n/a	n/a
3	BACH1	chr1:113258780-113259186	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:113258093-113258457	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:113261359-113261699	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:113265637-113266250	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr1:113257130-113257579	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr1:113258846-113259292	GM12878	blood:	n/a	n/a
9	BHLHE40	chr1:113257629-113257741	K562	blood:	n/a	n/a
10	BHLHE40	chr1:113258875-113259238	K562	blood:	n/a	n/a
11	BHLHE40	chr1:113261420-113261548	K562	blood:	n/a	n/a
12	BHLHE40	chr1:113256741-113256773	K562	blood:	n/a	n/a
13	BHLHE40	chr1:113257969-113258426	GM12878	blood:	n/a	n/a
14	BHLHE40	chr1:113261443-113261641	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:113258195-113258281	K562	blood:	n/a	n/a
16	BRCA1	chr1:113258986-113259247	GM12878	blood:	n/a	n/a
17	BRCA1	chr1:113259473-113259475	HepG2	liver:	n/a	n/a
18	BRCA1	chr1:113261297-113261578	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr1:113258907-113259266	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr1:113261370-113261570	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr1:113258527-113259228	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr1:113257943-113258444	K562	blood:	n/a	n/a
23	CCNT2	chr1:113261412-113261651	K562	blood:	n/a	n/a
24	CCNT2	chr1:113256902-113258505	K562	blood:	n/a	n/a
25	CEBPB	chr1:113261335-113261566	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr1:113258931-113259345	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr1:113257996-113258442	Hela-S3	cervix:	n/a	n/a
28	CHD1	chr1:113258128-113258311	GM12878	blood:	n/a	n/a
29	CHD2	chr1:113261267-113261581	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr1:113256511-113256932	GM12878	blood:	n/a	n/a
31	CHD2	chr1:113258121-113258321	K562	blood:	n/a	n/a
32	CHD2	chr1:113256815-113257129	K562	blood:	n/a	n/a
33	CHD2	chr1:113257551-113258402	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr1:113258914-113259260	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr1:113261405-113261508	HepG2	liver:	n/a	n/a
36	CHD2	chr1:113257776-113257845	K562	blood:	n/a	n/a
37	CHD2	chr1:113258020-113258363	GM12878	blood:	n/a	n/a
38	CHD2	chr1:113261298-113261398	GM12878	blood:	n/a	n/a
39	CHD2	chr1:113261463-113261489	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr1:113257926-113258205	A549	lung:	n/a	n/a
41	CREB1	chr1:113258042-113258563	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTBP2	chr1:113261277-113261905	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTBP2	chr1:113256344-113257826	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTBP2	chr1:113265294-113266328	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr1:113258888-113259235	GM12878	blood:	n/a	chr1:113259066-113259075 chr1:113259063-113259081
46	CTCF	chr1:113257780-113257930	GM12875	blood:	n/a	n/a
47	CTCF	chr1:113259000-113259150	AG09309	skin:	n/a	chr1:113259066-113259075 chr1:113259063-113259081
48	CTCF	chr1:113261380-113261530	HCPEpiC	choroid plexus:	n/a	chr1:113261469-113261487 chr1:113261472-113261481 chr1:113261470-113261486 chr1:113261472-113261485
49	CTCF	chr1:113261340-113261599	Lung_OC	lung:	n/a	chr1:113261469-113261487 chr1:113261472-113261481 chr1:113261470-113261486 chr1:113261472-113261485
50	CTCF	chr1:113261320-113261617	GM19240	blood:	n/a	chr1:113261469-113261487 chr1:113261472-113261481 chr1:113261470-113261486 chr1:113261472-113261485

(count:2015 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:113261071-113261121	U87	brain:	n/a
2	chr1:113255818-113255868	ECC-1	luminal epithelium:	n/a
3	chr1:113261071-113261121	U87	brain:	n/a
4	chr1:113255818-113255868	ECC-1	luminal epithelium:	n/a
5	chr1:113258217-113258267	HCF	heart:	n/a
6	chr1:113261723-113261773	ProgFib	skin:	n/a
7	chr1:113265602-113265652	IMR90	lung:	fetal
8	chr1:113265410-113265460	K562	blood:	n/a
9	chr1:113257894-113257944	RPTEC	kidney:	n/a
10	chr1:113257872-113257922	PANC-1	pancreas:	n/a
11	chr1:113258366-113258416	ECC-1	luminal epithelium:	n/a
12	chr1:113258217-113258267	HCT-116	colon:	n/a
13	chr1:113256886-113256936	GM06990	blood:	n/a
14	chr1:113259167-113259217	Caco-2	colon:	n/a
15	chr1:113265602-113265652	ovcar-3	ovarian:	n/a
16	chr1:113265611-113265661	Hela-S3	cervix:	n/a
17	chr1:113265602-113265652	K562	blood:	n/a
18	chr1:113265709-113265759	IMR90	lung:	fetal
19	chr1:113258121-113258171	GM12878	blood:	n/a
20	chr1:113257894-113257944	A549	lung:	n/a
21	chr1:113257872-113257922	HCM	heart:	n/a
22	chr1:113261613-113261663	SAEC	small airway:	n/a
23	chr1:113265709-113265759	SK-N-MC	brain:	n/a
24	chr1:113265709-113265759	HNPCEpiC	eye:	n/a
25	chr1:113261723-113261773	HCPEpiC	choroid plexus:	n/a
26	chr1:113258217-113258267	BE2_C	brain:	n/a
27	chr1:113262512-113262562	AG10803	skin:	n/a
28	chr1:113265602-113265652	Hepatocyte	liver:	n/a
29	chr1:113263289-113263339	T-47D	breast:	n/a
30	chr1:113265679-113265729	HRE	kidney:	n/a
31	chr1:113258187-113258237	NT2-D1	testis:	n/a
32	chr1:113265709-113265759	SAEC	small airway:	n/a
33	chr1:113257283-113257333	Hepatocyte	liver:	n/a
34	chr1:113258477-113258527	HCT-116	colon:	n/a
35	chr1:113265611-113265661	HCM	heart:	n/a
36	chr1:113258217-113258267	NT2-D1	testis:	n/a
37	chr1:113263289-113263339	HCM	heart:	n/a
38	chr1:113262512-113262562	ECC-1	luminal epithelium:	n/a
39	chr1:113265602-113265652	U87	brain:	n/a
40	chr1:113261711-113261761	GM12878	blood:	n/a
41	chr1:113258217-113258267	IMR90	lung:	fetal
42	chr1:113258477-113258527	MCF-7	breast:	n/a
43	chr1:113258477-113258527	AG04449	skin:	fetal
44	chr1:113252666-113252716	HRPEpiC	eye:	n/a
45	chr1:113258101-113258151	T-47D	breast:	n/a
46	chr1:113265679-113265729	SK-N-SH_RA	brain:	n/a
47	chr1:113261071-113261121	HEEpiC	esophagus:	n/a
48	chr1:113261764-113261814	NHDF-neo	bronchial:	n/a
49	chr1:113261711-113261761	NH-A	brain:	n/a
50	chr1:113252666-113252716	MCF10A-Er-Src	breast:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113246571..113250786-chr1:113261233..113263716,3	K562	blood:
2	chr1:113239573..113244483-chr1:113252369..113259292,10	K562	blood:
3	chr1:113260737..113262292-chr1:113346514..113347895,8	MCF-7	breast:
4	chr1:113261144..113261746-chr1:113584996..113585576,2	K562	blood:
5	chr1:113160555..113166228-chr1:113255932..113262161,8	K562	blood:
6	chr1:113215712..113221627-chr1:113253708..113259381,5	MCF-7	breast:
7	chr1:113256920..113257653-chr1:113351799..113352468,2	MCF-7	breast:
8	chr1:113254236..113255978-chr1:113257610..113260572,2	MCF-7	breast:
9	chr1:113257309..113258998-chr1:114446539..114449479,2	K562	blood:
10	chr1:113214866..113222565-chr1:113237012..113253952,54	K562	blood:
11	chr1:113259850..113261663-chr1:113346224..113348160,2	K562	blood:
12	chr1:113256258..113258254-chr1:113933817..113936025,2	K562	blood:
13	chr1:113249679..113250594-chr1:113258702..113259544,2	MCF-7	breast:
14	chr1:113215800..113219074-chr1:113254460..113258669,6	MCF-7	breast:
15	chr1:113160649..113163501-chr1:113258154..113260079,2	MCF-7	breast:
16	chr1:113258144..113259666-chr1:113261465..113263910,2	K562	blood:
17	chr1:113257176..113260368-chr1:113260579..113263250,3	K562	blood:
18	chr1:113261041..113262045-chr1:113346518..113347739,14	MCF-7	breast:
19	chr1:113254236..113255978-chr1:113257610..113260572,2	MCF-7	breast:
20	chr1:113259879..113262378-chr1:113279243..113281668,2	MCF-7	breast:
21	chr1:113260993..113261954-chr1:113346492..113347443,7	K562	blood:
22	chr1:113160602..113163896-chr1:113252357..113259247,7	K562	blood:
23	chr1:113257532..113261488-chr1:113614794..113617265,4	K562	blood:
24	chr1:113258995..113259664-chr1:113615256..113615760,2	MCF-7	breast:
25	chr1:113264247..113266152-chr1:113268040..113271030,2	MCF-7	breast:
26	chr1:113258681..113259438-chr1:113351567..113352234,2	MCF-7	breast:
27	chr1:113258144..113259666-chr1:113261465..113263910,2	K562	blood:
28	chr1:113166467..113169316-chr1:113256023..113257569,2	K562	blood:
29	chr1:113160638..113164364-chr1:113256565..113260015,7	MCF-7	breast:
30	chr1:113261035..113261874-chr1:113348328..113348915,2	MCF-7	breast:
31	chr1:113259009..113259528-chr1:113585120..113585818,2	K562	blood:
32	chr1:113258872..113261488-chr1:113615733..113617265,2	K562	blood:
33	chr1:113167163..113169286-chr1:113251721..113253249,2	K562	blood:
34	chr1:113157493..113160120-chr1:113249713..113252199,3	K562	blood:
35	chr1:113156746..113166477-chr1:113240630..113253423,46	MCF-7	breast:
36	chr1:113257176..113260368-chr1:113260579..113263250,3	K562	blood:
37	chr1:113166528..113169223-chr1:113253776..113256616,2	MCF-7	breast:
38	chr1:113258665..113259418-chrX:71573090..71573646,2	MCF-7	breast:
39	chr1:113253460..113256284-chr1:113256871..113259194,3	MCF-7	breast:
40	chr1:112933134..112934137-chr1:113258448..113259503,5	K562	blood:
41	chr1:113258943..113259574-chr1:113615172..113615954,2	MCF-7	breast:
42	chr1:113256385..113261073-chr1:113263679..113266561,4	K562	blood:
43	chr1:113258859..113259494-chr1:113351565..113352185,2	MCF-7	breast:
44	chr1:113255626..113260544-chr1:113496476..113500122,4	K562	blood:
45	chr1:113253460..113256284-chr1:113256871..113259194,3	MCF-7	breast:
46	chr1:113214590..113222957-chr1:113244863..113253590,39	MCF-7	breast:
47	chr1:113156399..113165396-chr1:113241191..113253782,55	MCF-7	breast:
48	chr1:113257500..113258462-chr12:46765998..46766576,2	HCT-116	colon:
49	chr1:113258208..113260404-chr1:113615515..113617358,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOC-2	chr1:113256856-113257349	NONHSAT005279
2	lnc-FAM19A3-1	chr1:113258294-113260434	NONHSAT005280
3	lnc-RHOC-2	chr1:113257598-113257950	NONHSAT005279
4	lnc-FAM19A3-1	chr1:113258294-113260418	ENSG00000261595.1

No data

Variant related genes	Relation type
PPM1J	TF binding region
RHOC	TF binding region
ENSG00000271810	TF binding region
ENSG00000261595	TF binding region
FAM19A3	TF binding region
PPM1J	CpG island
RHOC	CpG island
ENSG00000271810	CpG island
ENSG00000261595	CpG island
FAM19A3	CpG island
ENSG00000118655	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000155363	chromatin interactions
ENSG00000134262	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000226419	chromatin interactions
ENSG00000271810	chromatin interactions
ENSG00000235299	chromatin interactions
ENSG00000238198	chromatin interactions
ENSG00000155366	chromatin interactions
ENSG00000184599	chromatin interactions
ENSG00000116489	chromatin interactions
ENSG00000155367	chromatin interactions
ENSG00000261595	chromatin interactions
ENSG00000155380	chromatin interactions
ENSG00000198799	chromatin interactions
ENSG00000081026	chromatin interactions

Extended variants
information (count: 562 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12085734	chr1:113252091-113252092	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376403713	chr1:113252127-113252128	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs560094167	chr1:113252135-113252136	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs532395750	chr1:113252244-113252245	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs141134889	chr1:113252261-113252262	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs536968553	chr1:113252325-113252326	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs370401246	chr1:113252354-113252355	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs144847061	chr1:113252393-113252394	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs547902224	chr1:113252440-113252441	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs60460386	chr1:113252442-113252443	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373031613	chr1:113252527-113252528	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs371150664	chr1:113252536-113252537	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs553482471	chr1:113252560-113252561	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs138725511	chr1:113252566-113252567	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs72986536	chr1:113252598-113252599	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs558806495	chr1:113252608-113252609	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs41310100	chr1:113252614-113252615	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs59789231	chr1:113252631-113252632	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs41306187	chr1:113252632-113252633	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs188914364	chr1:113252650-113252651	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs76334762	chr1:113252667-113252668	Strong transcription Weak transcription Enhancers	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs560610826	chr1:113252671-113252672	Strong transcription Weak transcription Enhancers	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs549155516	chr1:113252679-113252680	Strong transcription Weak transcription Enhancers	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs191372129	chr1:113252703-113252704	Strong transcription Weak transcription Enhancers	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs546048564	chr1:113252704-113252705	Strong transcription Weak transcription Enhancers	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs372374828	chr1:113252745-113252746	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs374758715	chr1:113252767-113252768	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs562746927	chr1:113252777-113252778	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs368692262	chr1:113252780-113252781	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs370997484	chr1:113252782-113252783	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs140540673	chr1:113252784-113252785	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs375519741	chr1:113252788-113252789	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs531526071	chr1:113252798-113252799	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs145240839	chr1:113252811-113252812	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs182057306	chr1:113252836-113252837	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs41312688	chr1:113252841-113252842	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs115448801	chr1:113252842-113252843	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs547163944	chr1:113252848-113252849	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs138165734	chr1:113252852-113252853	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs113935705	chr1:113252867-113252868	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs148123745	chr1:113252868-113252869	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs552375976	chr1:113252869-113252870	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs201204322	chr1:113252876-113252877	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs115324109	chr1:113252882-113252883	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs555291454	chr1:113252889-113252890	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs574734247	chr1:113252894-113252895	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs201874285	chr1:113252895-113252896	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs114911143	chr1:113252927-113252928	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs200488895	chr1:113252940-113252941	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs201414959	chr1:113252943-113252944	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1122 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113249000-113256400	Weak transcription	Fetal Heart	heart
2	chr1:113250400-113256000	Weak transcription	Brain Substantia Nigra	brain
3	chr1:113250400-113256000	Weak transcription	Right Ventricle	heart
4	chr1:113250400-113256200	Weak transcription	Esophagus	oesophagus
5	chr1:113250400-113256200	Weak transcription	Gastric	stomach
6	chr1:113250400-113256400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:113250400-113256600	Weak transcription	Brain Angular Gyrus	brain
8	chr1:113250400-113256600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:113250400-113256600	Weak transcription	Psoas Muscle	Psoas
10	chr1:113250400-113256800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:113250400-113256800	Weak transcription	Aorta	Aorta
12	chr1:113250600-113252200	Weak transcription	GM12878-XiMat	blood
13	chr1:113250600-113252800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:113250600-113254200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:113250600-113255200	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:113250600-113255800	Weak transcription	Liver	Liver
17	chr1:113250600-113256000	Weak transcription	Adipose Nuclei	Adipose
18	chr1:113250600-113256000	Weak transcription	Brain Anterior Caudate	brain
19	chr1:113250600-113256000	Weak transcription	Left Ventricle	heart
20	chr1:113250600-113256000	Weak transcription	Stomach Mucosa	stomach
21	chr1:113250600-113256200	Weak transcription	Pancreas	Pancrea
22	chr1:113250600-113256200	Weak transcription	Spleen	Spleen
23	chr1:113250600-113256600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:113250600-113256800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:113250600-113257000	Weak transcription	HUVEC	blood vessel
26	chr1:113250800-113252200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:113250800-113252400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:113250800-113252400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:113250800-113252800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:113250800-113253000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:113250800-113253000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:113250800-113254000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:113250800-113255600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:113250800-113256000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:113250800-113256200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:113250800-113256200	Weak transcription	Primary B cells from cord blood	blood
37	chr1:113250800-113256600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:113250800-113256600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:113250800-113256600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:113250800-113256600	Weak transcription	Osteobl	bone
41	chr1:113251000-113252400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:113251000-113256200	Weak transcription	HMEC	breast
43	chr1:113251000-113256400	Weak transcription	NHEK	skin
44	chr1:113251000-113257200	Weak transcription	Hela-S3	cervix
45	chr1:113251200-113252400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:113251200-113252800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:113251200-113254000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:113251400-113256200	Weak transcription	K562	blood
49	chr1:113251400-113256800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:113251800-113253800	Strong transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links