Variant report

Variant	nsv582517
Chromosome Location	chr2:99440917-99487972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:99465811-99465855	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:99485015-99485303	HepG2	liver:	n/a	n/a
3	BCL3	chr2:99484078-99484414	GM12878	blood:	n/a	n/a
4	BCLAF1	chr2:99453562-99453901	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:99452192-99452851	GM12878	blood:	n/a	n/a
6	BHLHE40	chr2:99485018-99485509	HepG2	liver:	n/a	n/a
7	BRCA1	chr2:99485920-99486120	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr2:99465587-99465994	ECC-1	luminal epithelium:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
9	CEBPB	chr2:99447063-99447137	K562	blood:	n/a	n/a
10	CEBPB	chr2:99460242-99460462	HepG2	liver:	n/a	chr2:99460373-99460384
11	CEBPB	chr2:99465646-99465905	HepG2	liver:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
12	CEBPB	chr2:99445205-99445495	HepG2	liver:	n/a	chr2:99445359-99445372 chr2:99445360-99445371
13	CEBPB	chr2:99465548-99466053	MCF-7	breast:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
14	CEBPB	chr2:99484951-99485315	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:99485023-99485290	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr2:99445161-99445588	MCF-7	breast:	n/a	chr2:99445359-99445372 chr2:99445360-99445371
17	CEBPB	chr2:99465582-99465960	K562	blood:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
18	CEBPB	chr2:99486205-99486804	MCF-7	breast:	n/a	n/a
19	CEBPB	chr2:99465641-99465995	A549	lung:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
20	CEBPB	chr2:99485730-99486741	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr2:99460228-99460406	H1-hESC	embryonic stem cell:	n/a	chr2:99460373-99460384
22	CEBPB	chr2:99465591-99465986	HepG2	liver:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
23	CEBPB	chr2:99477066-99477207	A549	lung:	n/a	n/a
24	CEBPB	chr2:99471307-99471440	HepG2	liver:	n/a	chr2:99471390-99471401
25	CEBPB	chr2:99465463-99466038	A549	lung:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
26	CEBPB	chr2:99465616-99466013	Hela-S3	cervix:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
27	CEBPB	chr2:99441364-99441449	HepG2	liver:	n/a	n/a
28	CEBPB	chr2:99465599-99465972	A549	lung:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
29	CEBPB	chr2:99484103-99484408	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr2:99465557-99465999	ECC-1	luminal epithelium:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
31	CEBPB	chr2:99465636-99465893	HepG2	liver:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
32	CEBPB	chr2:99465611-99465956	H1-hESC	embryonic stem cell:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
33	CEBPB	chr2:99465516-99466019	MCF-7	breast:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
34	CEBPB	chr2:99465589-99465966	HepG2	liver:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
35	CEBPB	chr2:99465586-99465906	K562	blood:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
36	CEBPB	chr2:99465607-99465962	IMR90	lung:	n/a	chr2:99465782-99465791 chr2:99465782-99465791 chr2:99465781-99465792 chr2:99465782-99465791
37	CHD1	chr2:99453456-99453954	IMR90	lung:	n/a	n/a
38	CHD2	chr2:99485622-99486091	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr2:99452209-99452973	GM12878	blood:	n/a	n/a
40	CHD2	chr2:99486414-99486647	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr2:99487324-99487527	K562	blood:	n/a	n/a
42	CREB1	chr2:99486380-99486766	ECC-1	luminal epithelium:	n/a	n/a
43	CTCF	chr2:99453720-99453870	GM12864	blood:	n/a	n/a
44	CTCF	chr2:99453556-99453794	A549	lung:	n/a	chr2:99453715-99453733 chr2:99453716-99453732 chr2:99453710-99453731
45	CTCF	chr2:99453640-99453790	AG10803	skin:	n/a	chr2:99453715-99453733 chr2:99453716-99453732 chr2:99453710-99453731
46	CTCF	chr2:99486280-99486430	MCF-7	breast:	n/a	n/a
47	CTCF	chr2:99453640-99453790	AG04449	skin:	n/a	chr2:99453715-99453733 chr2:99453716-99453732 chr2:99453710-99453731
48	CTCF	chr2:99453660-99453810	HAc	cerebellar:	n/a	chr2:99453715-99453733 chr2:99453716-99453732 chr2:99453710-99453731
49	CTCF	chr2:99453640-99453790	HA-sp	spinal cord:	n/a	chr2:99453715-99453733 chr2:99453716-99453732 chr2:99453710-99453731
50	CTCF	chr2:99453640-99453790	GM12868	blood:	n/a	chr2:99453715-99453733 chr2:99453716-99453732 chr2:99453710-99453731

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:99442537-99442587	HUVEC	blood vessel:	n/a
2	chr2:99442537-99442587	HEEpiC	esophagus:	n/a
3	chr2:99442537-99442587	NHDF-neo	bronchial:	n/a
4	chr2:99442537-99442587	AoSMC	blood vessel:	n/a
5	chr2:99442537-99442587	RPTEC	kidney:	n/a
6	chr2:99442537-99442587	AG10803	skin:	n/a
7	chr2:99442537-99442587	LNCaP	prostate:	n/a
8	chr2:99442537-99442587	CMK	blood:	n/a
9	chr2:99442537-99442587	HIPEpiC	eye:	n/a
10	chr2:99442537-99442587	HEK293	kidney:	embryo
11	chr2:99442537-99442587	HNPCEpiC	eye:	n/a
12	chr2:99442537-99442587	GM19239	blood:	n/a
13	chr2:99442537-99442587	NB4	blood:	n/a
14	chr2:99442537-99442587	HRE	kidney:	n/a
15	chr2:99442537-99442587	SAEC	small airway:	n/a
16	chr2:99442537-99442587	NH-A	brain:	n/a
17	chr2:99442537-99442587	ECC-1	luminal epithelium:	n/a
18	chr2:99442537-99442587	H1-hESC	embryonic stem cell:	embryo
19	chr2:99442537-99442587	U87	brain:	n/a
20	chr2:99442537-99442587	AG09319	gingival:	n/a
21	chr2:99442537-99442587	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:99442537-99442587	ProgFib	skin:	n/a
23	chr2:99442537-99442587	PANC-1	pancreas:	n/a
24	chr2:99442537-99442587	PrEC	prostate:	n/a
25	chr2:99442537-99442587	Hepatocyte	liver:	n/a
26	chr2:99442537-99442587	IMR90	lung:	fetal
27	chr2:99442537-99442587	A549	lung:	n/a
28	chr2:99442537-99442587	HRPEpiC	eye:	n/a
29	chr2:99442537-99442587	AG04450	lung:	fetal
30	chr2:99442537-99442587	HAEpiC	amniotic membrane:	n/a
31	chr2:99442537-99442587	NT2-D1	testis:	n/a
32	chr2:99442537-99442587	HCT-116	colon:	n/a
33	chr2:99442537-99442587	K562	blood:	n/a
34	chr2:99442537-99442587	BJ	skin:	n/a
35	chr2:99442537-99442587	Jurkat	blood:	n/a
36	chr2:99442537-99442587	T-47D	breast:	n/a
37	chr2:99442537-99442587	HL-60	blood:	n/a
38	chr2:99442537-99442587	GM12891	blood:	n/a
39	chr2:99442537-99442587	AG04449	skin:	fetal
40	chr2:99442537-99442587	SK-N-SH_RA	brain:	n/a
41	chr2:99442537-99442587	MCF10A-Er-Src	breast:	n/a
42	chr2:99442537-99442587	PFSK-1	brain:	n/a
43	chr2:99442537-99442587	HRCEpiC	kidney:	n/a
44	chr2:99442537-99442587	HCM	heart:	n/a
45	chr2:99442537-99442587	ovcar-3	ovarian:	n/a
46	chr2:99442537-99442587	Hela-S3	cervix:	n/a
47	chr2:99442537-99442587	SKMC	muscle:	n/a
48	chr2:99442537-99442587	BE2_C	brain:	n/a
49	chr2:99442537-99442587	GM12878	blood:	n/a
50	chr2:99442537-99442587	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99437609..99439814-chr2:99443387..99445956,2	MCF-7	breast:
2	chr2:99185438..99186089-chr2:99453611..99454151,2	MCF-7	breast:
3	chr2:99265741..99266503-chr2:99453255..99454108,5	MCF-7	breast:
4	chr2:99449234..99452452-chr2:99458195..99461216,3	MCF-7	breast:
5	chr2:99434724..99436246-chr2:99444476..99446332,2	MCF-7	breast:
6	chr2:99468965..99470613-chr2:99498482..99500430,2	MCF-7	breast:
7	chr2:99443633..99446031-chr2:99448768..99450507,2	K562	blood:
8	chr2:99344971..99347100-chr2:99444571..99447459,2	MCF-7	breast:
9	chr2:99461401..99464766-chr2:99483724..99486615,3	MCF-7	breast:
10	chr2:99454965..99457763-chr2:99481942..99484903,2	MCF-7	breast:
11	chr2:99482631..99484233-chr2:99497565..99499483,2	MCF-7	breast:
12	chr2:99480402..99483118-chr2:99488254..99491122,2	MCF-7	breast:
13	chr2:99352944..99355702-chr2:99450894..99453779,2	MCF-7	breast:
14	chr2:99468266..99471087-chr2:99473957..99476591,2	MCF-7	breast:
15	chr2:99459110..99461074-chr2:99484535..99486648,3	MCF-7	breast:
16	chr2:99223225..99225395-chr2:99478487..99481431,2	MCF-7	breast:
17	chr2:99345811..99349934-chr2:99448435..99450285,3	MCF-7	breast:
18	chr2:99468880..99471646-chr2:99485398..99487819,3	MCF-7	breast:
19	chr2:99466677..99468952-chr2:99480016..99482903,2	MCF-7	breast:
20	chr2:99484412..99487919-chr2:99523957..99528531,6	MCF-7	breast:
21	chr2:99250989..99251809-chr2:99453125..99453766,2	MCF-7	breast:
22	chr2:99266174..99266704-chr2:99452319..99452854,2	MCF-7	breast:
23	chr2:99028647..99029579-chr2:99452420..99452934,2	K562	blood:
24	chr2:99344923..99349258-chr2:99450100..99455296,6	MCF-7	breast:
25	chr2:99348346..99350092-chr2:99446085..99447956,2	MCF-7	breast:
26	chr2:99265598..99266647-chr2:99453141..99454628,13	MCF-7	breast:
27	chr2:99452886..99453651-chr2:99682645..99683214,2	MCF-7	breast:
28	chr2:99485026..99487433-chr2:100105196..100107704,3	MCF-7	breast:
29	chr2:99223862..99225617-chr2:99483733..99486358,2	MCF-7	breast:
30	chr2:99468266..99471087-chr2:99473957..99476591,2	MCF-7	breast:
31	chr2:99443633..99446031-chr2:99448768..99450507,2	K562	blood:
32	chr2:99449234..99452452-chr2:99458195..99461216,3	MCF-7	breast:
33	chr2:99341666..99344183-chr2:99455107..99457899,2	MCF-7	breast:
34	chr2:99302882..99305773-chr2:99446334..99448179,2	MCF-7	breast:
35	chr2:99466677..99468952-chr2:99480016..99482903,2	MCF-7	breast:
36	chr2:99265658..99266563-chr2:99453218..99454170,6	K562	blood:

Variant related genes	Relation type
RNU7-46P	TF binding region
KIAA1211L	TF binding region
RNU7-46P	CpG island
KIAA1211L	CpG island
ENSG00000238830	chromatin interactions
ENSG00000071073	chromatin interactions
ENSG00000183513	chromatin interactions
ENSG00000135945	chromatin interactions
ENSG00000196872	chromatin interactions
ENSG00000115446	chromatin interactions

Extended variants
information (count: 1577 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1577 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12622445	chr2:99440917-99440918	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557750172	chr2:99440975-99440976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs550619052	chr2:99440985-99440986	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs142104707	chr2:99441053-99441054	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs182605927	chr2:99441151-99441152	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs60725966	chr2:99441152-99441153	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs117830828	chr2:99441174-99441175	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs562750730	chr2:99441198-99441199	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs542234250	chr2:99441227-99441228	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs552525968	chr2:99441240-99441241	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs187803121	chr2:99441271-99441272	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs566444112	chr2:99441383-99441384	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs565430828	chr2:99441415-99441416	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs531183367	chr2:99441465-99441466	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs544774625	chr2:99441475-99441476	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs201225659	chr2:99441547-99441548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs113733745	chr2:99441582-99441583	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs192677591	chr2:99441612-99441613	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs113642904	chr2:99441651-99441652	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs566903838	chr2:99441689-99441690	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs72811003	chr2:99441697-99441698	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183232450	chr2:99441723-99441724	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs571567352	chr2:99441797-99441798	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs538995720	chr2:99441815-99441816	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs113373539	chr2:99441866-99441867	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs557262693	chr2:99441882-99441883	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs201855765	chr2:99441887-99441888	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs575518489	chr2:99441958-99441959	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs187479461	chr2:99442005-99442006	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs535972964	chr2:99442064-99442065	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs151229019	chr2:99442104-99442105	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs193080416	chr2:99442174-99442175	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs140404572	chr2:99442182-99442183	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs116134581	chr2:99442261-99442262	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs149921859	chr2:99442317-99442318	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs544840641	chr2:99442324-99442325	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs184840775	chr2:99442417-99442418	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377073469	chr2:99442428-99442429	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112106804	chr2:99442434-99442435	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536490322	chr2:99442473-99442474	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540767426	chr2:99442485-99442486	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116262641	chr2:99442509-99442510	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532538246	chr2:99442587-99442588	Weak transcription Enhancers Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs72811004	chr2:99442588-99442589	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573058361	chr2:99442687-99442688	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571535491	chr2:99442702-99442703	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189733650	chr2:99442724-99442725	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145004495	chr2:99442753-99442754	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192334618	chr2:99442773-99442774	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183935991	chr2:99442822-99442823	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99418000-99442200	Weak transcription	Stomach Mucosa	stomach
2	chr2:99427400-99442000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:99435600-99444600	Weak transcription	Hela-S3	cervix
4	chr2:99438800-99448600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:99439400-99441000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr2:99439400-99442400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:99439600-99441200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:99439600-99441600	Enhancers	Fetal Thymus	thymus
9	chr2:99439600-99441800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:99439600-99442800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:99439800-99441400	Enhancers	HUVEC	blood vessel
12	chr2:99439800-99441600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:99439800-99441800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr2:99439800-99441800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:99439800-99442000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr2:99439800-99442200	Enhancers	Primary T cells from cord blood	blood
17	chr2:99439800-99442200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:99439800-99442200	Weak transcription	Esophagus	oesophagus
19	chr2:99439800-99442200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr2:99439800-99444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:99439800-99446200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:99439800-99448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:99440000-99441200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:99440000-99441800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:99440000-99442000	Weak transcription	Pancreas	Pancrea
26	chr2:99440000-99442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:99440000-99443200	Enhancers	HepG2	liver
28	chr2:99440000-99447600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:99440000-99460600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:99440200-99441000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:99440200-99442000	Weak transcription	Fetal Intestine Small	intestine
32	chr2:99440200-99442000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:99440200-99442200	Enhancers	Adipose Nuclei	Adipose
34	chr2:99440200-99444000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:99440200-99449800	Weak transcription	Colonic Mucosa	Colon
36	chr2:99440400-99441000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:99440400-99441000	Enhancers	Thymus	Thymus
38	chr2:99440400-99441400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:99440400-99442000	Enhancers	Primary B cells from peripheral blood	blood
40	chr2:99440400-99442400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:99440400-99444200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:99440400-99453800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:99440400-99463400	Weak transcription	Fetal Intestine Large	intestine
44	chr2:99440600-99441600	Weak transcription	Brain Substantia Nigra	brain
45	chr2:99440600-99441600	Weak transcription	Right Ventricle	heart
46	chr2:99440600-99442000	Weak transcription	Gastric	stomach
47	chr2:99440600-99442200	Enhancers	Primary hematopoietic stem cells	blood
48	chr2:99440600-99442200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:99440600-99442400	Weak transcription	Brain Angular Gyrus	brain
50	chr2:99440600-99442800	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links