Variant report

Variant	nsv584031
Chromosome Location	chr2:187364878-187440683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1234)
CpG islands
(count:244)
Chromatin interactive
region (count:109)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:1234 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:187439988-187440337	K562	blood:	n/a	n/a
2	ARID3A	chr2:187368876-187369146	K562	blood:	n/a	n/a
3	ARID3A	chr2:187395169-187395341	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:187433395-187433608	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:187440116-187440425	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:187435446-187435766	K562	blood:	n/a	n/a
7	ARID3A	chr2:187380181-187380273	K562	blood:	n/a	n/a
8	ARID3A	chr2:187380306-187380501	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:187398391-187399095	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:187435476-187435712	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:187408669-187409574	HepG2	liver:	n/a	n/a
12	ARID3A	chr2:187409241-187409271	K562	blood:	n/a	n/a
13	ARID3A	chr2:187368653-187369409	HepG2	liver:	n/a	n/a
14	ATF1	chr2:187419867-187420160	K562	blood:	n/a	n/a
15	ATF1	chr2:187397966-187398083	K562	blood:	n/a	n/a
16	ATF1	chr2:187440091-187440380	K562	blood:	n/a	n/a
17	ATF3	chr2:187440042-187440463	A549	lung:	n/a	n/a
18	ATF3	chr2:187437337-187437912	A549	lung:	n/a	n/a
19	ATF3	chr2:187408940-187409498	A549	lung:	n/a	n/a
20	ATF3	chr2:187439981-187440385	K562	blood:	n/a	n/a
21	ATF3	chr2:187440034-187440499	A549	lung:	n/a	n/a
22	ATF3	chr2:187435281-187435823	A549	lung:	n/a	n/a
23	ATF3	chr2:187437336-187437825	A549	lung:	n/a	n/a
24	ATF3	chr2:187406844-187407078	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF3	chr2:187408900-187409553	A549	lung:	n/a	n/a
26	BACH1	chr2:187408814-187409022	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr2:187383730-187383762	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr2:187440191-187440429	H1-hESC	embryonic stem cell:	n/a	chr2:187440259-187440273
29	BACH1	chr2:187440095-187440379	K562	blood:	n/a	chr2:187440259-187440273
30	BCL3	chr2:187439771-187440588	A549	lung:	n/a	n/a
31	BCL3	chr2:187437330-187438000	A549	lung:	n/a	n/a
32	BCL3	chr2:187437319-187437942	A549	lung:	n/a	n/a
33	BCL3	chr2:187435240-187435917	A549	lung:	n/a	n/a
34	BCL3	chr2:187408657-187409636	A549	lung:	n/a	chr2:187409272-187409281
35	BHLHE40	chr2:187368734-187369070	K562	blood:	n/a	n/a
36	BRCA1	chr2:187370336-187370429	GM12878	blood:	n/a	n/a
37	CBX3	chr2:187397435-187397954	K562	blood:	n/a	n/a
38	CBX3	chr2:187440026-187440439	K562	blood:	n/a	n/a
39	CCNT2	chr2:187376090-187376157	K562	blood:	n/a	n/a
40	CCNT2	chr2:187425527-187425885	K562	blood:	n/a	n/a
41	CCNT2	chr2:187382400-187382494	K562	blood:	n/a	n/a
42	CCNT2	chr2:187376599-187376761	K562	blood:	n/a	n/a
43	CCNT2	chr2:187439842-187440321	K562	blood:	n/a	n/a
44	CEBPB	chr2:187395074-187395381	A549	lung:	n/a	chr2:187395235-187395244 chr2:187395233-187395246 chr2:187395235-187395244 chr2:187395235-187395244 chr2:187395235-187395244 chr2:187395233-187395244 chr2:187395234-187395245
45	CEBPB	chr2:187379241-187379330	K562	blood:	n/a	n/a
46	CEBPB	chr2:187368815-187369293	IMR90	lung:	n/a	chr2:187369125-187369133 chr2:187368986-187368997
47	CEBPB	chr2:187383518-187383795	HepG2	liver:	n/a	chr2:187383641-187383652
48	CEBPB	chr2:187426385-187426804	HepG2	liver:	n/a	n/a
49	CEBPB	chr2:187407559-187407869	IMR90	lung:	n/a	chr2:187407690-187407701
50	CEBPB	chr2:187406752-187407055	K562	blood:	n/a	chr2:187406925-187406936

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:187386037-187386087	HUVEC	blood vessel:	n/a
2	chr2:187385911-187385961	HepG2	liver:	n/a
3	chr2:187385867-187385917	ovcar-3	ovarian:	n/a
4	chr2:187385867-187385917	SKMC	muscle:	n/a
5	chr2:187385867-187385917	BJ	skin:	n/a
6	chr2:187385867-187385917	NT2-D1	testis:	n/a
7	chr2:187386037-187386087	AG09319	gingival:	n/a
8	chr2:187373473-187373523	PANC-1	pancreas:	n/a
9	chr2:187373473-187373523	HMEC	breast:	n/a
10	chr2:187385911-187385961	HCPEpiC	choroid plexus:	n/a
11	chr2:187386037-187386087	HEK293	kidney:	embryo
12	chr2:187385911-187385961	K562	blood:	n/a
13	chr2:187386037-187386087	SKMC	muscle:	n/a
14	chr2:187385911-187385961	SK-N-MC	brain:	n/a
15	chr2:187386037-187386087	Hela-S3	cervix:	n/a
16	chr2:187385911-187385961	SK-N-SH	brain:	n/a
17	chr2:187385867-187385917	K562	blood:	n/a
18	chr2:187385911-187385961	SAEC	small airway:	n/a
19	chr2:187385867-187385917	CMK	blood:	n/a
20	chr2:187386037-187386087	SK-N-SH_RA	brain:	n/a
21	chr2:187386037-187386087	HRCEpiC	kidney:	n/a
22	chr2:187385911-187385961	A549	lung:	n/a
23	chr2:187373473-187373523	K562	blood:	n/a
24	chr2:187385867-187385917	HAEpiC	amniotic membrane:	n/a
25	chr2:187386037-187386087	SAEC	small airway:	n/a
26	chr2:187385911-187385961	HEK293	kidney:	embryo
27	chr2:187386037-187386087	HCPEpiC	choroid plexus:	n/a
28	chr2:187373473-187373523	T-47D	breast:	n/a
29	chr2:187385867-187385917	MCF10A-Er-Src	breast:	n/a
30	chr2:187386037-187386087	NT2-D1	testis:	n/a
31	chr2:187373473-187373523	Hepatocyte	liver:	n/a
32	chr2:187386037-187386087	ECC-1	luminal epithelium:	n/a
33	chr2:187373473-187373523	AG09309	skin:	n/a
34	chr2:187385911-187385961	GM06990	blood:	n/a
35	chr2:187373473-187373523	SAEC	small airway:	n/a
36	chr2:187385911-187385961	PrEC	prostate:	n/a
37	chr2:187385867-187385917	NHBE	bronchial:	n/a
38	chr2:187385867-187385917	HepG2	liver:	n/a
39	chr2:187385911-187385961	CMK	blood:	n/a
40	chr2:187385867-187385917	U87	brain:	n/a
41	chr2:187386037-187386087	HCF	heart:	n/a
42	chr2:187373473-187373523	HEK293	kidney:	embryo
43	chr2:187385911-187385961	HNPCEpiC	eye:	n/a
44	chr2:187373473-187373523	Hela-S3	cervix:	n/a
45	chr2:187385911-187385961	HRPEpiC	eye:	n/a
46	chr2:187386037-187386087	AG04450	lung:	fetal
47	chr2:187385911-187385961	ProgFib	skin:	n/a
48	chr2:187385911-187385961	LNCaP	prostate:	n/a
49	chr2:187373473-187373523	Jurkat	blood:	n/a
50	chr2:187385867-187385917	NHDF-neo	bronchial:	n/a

(count:109 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:187420574..187422329-chr2:187424400..187426246,2	K562	blood:
2	chr2:187370485..187373217-chr2:187453776..187456177,3	MCF-7	breast:
3	chr2:187392275..187395253-chr2:187409654..187411697,2	MCF-7	breast:
4	chr2:187378179..187380116-chr2:187380297..187381882,2	K562	blood:
5	chr2:187410468..187412799-chr2:187439579..187442121,2	MCF-7	breast:
6	chr2:187406154..187410015-chr2:187435632..187441776,6	MCF-7	breast:
7	chr2:187370609..187373386-chr2:187454442..187456199,2	MCF-7	breast:
8	chr2:187411036..187412543-chr2:187454382..187455902,2	MCF-7	breast:
9	chr2:187378645..187382692-chr2:187454130..187456514,4	MCF-7	breast:
10	chr2:187407559..187410721-chr2:187423895..187426771,4	MCF-7	breast:
11	chr2:187396797..187398319-chr2:187453607..187456496,2	MCF-7	breast:
12	chr2:187392523..187394451-chr2:187396324..187399095,3	K562	blood:
13	chr2:187392523..187394451-chr2:187396324..187399095,3	K562	blood:
14	chr2:187435550..187437375-chr2:187442844..187445371,2	K562	blood:
15	chr2:187392275..187395253-chr2:187409654..187411697,2	MCF-7	breast:
16	chr2:187414378..187416859-chr2:187424448..187427803,3	K562	blood:
17	chr2:187386798..187388432-chr2:187393071..187395661,2	K562	blood:
18	chr2:187393393..187396290-chr2:187445329..187448108,2	MCF-7	breast:
19	chr2:187350081..187352556-chr2:187433116..187434911,2	MCF-7	breast:
20	chr2:187410468..187412799-chr2:187439579..187442121,2	MCF-7	breast:
21	chr2:187412931..187415408-chr2:187415614..187417884,2	K562	blood:
22	chr2:187406244..187408980-chr2:187422400..187424184,2	MCF-7	breast:
23	chr2:187350930..187352982-chr2:187364915..187367637,2	MCF-7	breast:
24	chr2:187408437..187410562-chr2:187417781..187420649,2	K562	blood:
25	chr2:187390194..187392854-chr2:187410483..187412106,2	K562	blood:
26	chr2:187416465..187418037-chr2:187440678..187443102,2	MCF-7	breast:
27	chr2:187388812..187391488-chr2:187392591..187395983,4	K562	blood:
28	chr2:187397454..187400550-chr2:187453659..187456289,3	MCF-7	breast:
29	chr2:187437479..187442784-chr2:187443924..187447436,6	MCF-7	breast:
30	chr2:187408487..187411855-chr2:187414594..187417273,4	K562	blood:
31	chr2:187398977..187400770-chr2:187403878..187405986,2	K562	blood:
32	chr2:187402678..187406003-chr2:187406962..187409944,3	K562	blood:
33	chr2:187412946..187417035-chr2:187453622..187456860,4	MCF-7	breast:
34	chr2:187409753..187412549-chr2:187463065..187465596,2	MCF-7	breast:
35	chr2:187438759..187442258-chr2:187444014..187446139,4	MCF-7	breast:
36	chr2:187406244..187408980-chr2:187422400..187424184,2	MCF-7	breast:
37	chr2:187384719..187386764-chr2:187392333..187394078,2	MCF-7	breast:
38	chr2:187435611..187437376-chr2:187439116..187441984,2	MCF-7	breast:
39	chr2:187388812..187391488-chr2:187392591..187395983,4	K562	blood:
40	chr2:187411689..187413817-chr2:187434858..187437606,2	MCF-7	breast:
41	chr2:187352868..187356509-chr2:187367066..187369424,5	K562	blood:
42	chr2:187384982..187387074-chr2:187390349..187392108,2	K562	blood:
43	chr2:187380709..187383265-chr2:187491364..187493572,2	K562	blood:
44	chr2:187412931..187415408-chr2:187415614..187417884,2	K562	blood:
45	chr2:187435611..187437376-chr2:187439116..187441984,2	MCF-7	breast:
46	chr2:187406067..187412442-chr2:187438004..187442761,8	MCF-7	breast:
47	chr2:187402678..187406003-chr2:187406962..187409944,3	K562	blood:
48	chr2:187390194..187392854-chr2:187410483..187412106,2	K562	blood:
49	chr2:187432930..187434820-chr2:187437011..187439461,2	MCF-7	breast:
50	chr2:187419131..187421753-chr2:187453589..187456403,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZC3H15-2	chr2:187385415-187385989	NONHSAT075998
2	lnc-ZC3H15-2	chr2:187380736-187381418	NONHSAT075998
3	lnc-ZC3H15-2	chr2:187406763-187406872	NONHSAT075998
4	lnc-ZC3H15-2	chr2:187388621-187388926	NONHSAT075998
5	lnc-ZC3H15-2	chr2:187381523-187382076	NONHSAT075998
6	lnc-ZC3H15-2	chr2:187378238-187379347	NONHSAT075998

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZC3H15	hsa-miR-186-5p	chr2:187373959-187373980
2	ZC3H15	hsa-miR-186-5p	chr2:187374020-187374041
3	ZC3H15	hsa-miR-96-5p	chr2:187374027-187374049

Variant related genes	Relation type
ZC3H15	TF binding region
ENSG00000268846	TF binding region
ZC3H15	CpG island
ENSG00000268846	CpG island
ENSG00000065548	chromatin interactions
ENSG00000138448	chromatin interactions
ENSG00000224323	chromatin interactions
ENSG00000268846	chromatin interactions

Extended variants
information (count: 2710 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2710 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4144785	chr2:187364878-187364879	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74834357	chr2:187365052-187365053	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs79804416	chr2:187365112-187365113	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529501452	chr2:187365113-187365114	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544504325	chr2:187365115-187365116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113476894	chr2:187365119-187365120	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556224515	chr2:187365135-187365136	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577622738	chr2:187365154-187365155	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538716466	chr2:187365187-187365188	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs137922430	chr2:187365189-187365190	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs16827929	chr2:187365203-187365204	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146024551	chr2:187365204-187365205	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11888324	chr2:187365232-187365233	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139990335	chr2:187365276-187365277	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543406813	chr2:187365289-187365290	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111548705	chr2:187365321-187365322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs78584352	chr2:187365322-187365323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75430255	chr2:187365324-187365325	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184048232	chr2:187365340-187365341	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559945625	chr2:187365358-187365359	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs62200583	chr2:187365374-187365375	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs575413584	chr2:187365390-187365391	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs75552403	chr2:187365419-187365420	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs13009640	chr2:187365421-187365422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs111872497	chr2:187365482-187365483	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567399015	chr2:187365488-187365489	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs537854197	chr2:187365496-187365497	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs549549483	chr2:187365516-187365517	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs6754179	chr2:187365636-187365637	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371872513	chr2:187365651-187365652	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs538382294	chr2:187365654-187365655	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553888558	chr2:187365656-187365657	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375004707	chr2:187365668-187365669	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs527961394	chr2:187365702-187365703	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538092204	chr2:187365739-187365740	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs80337336	chr2:187365774-187365775	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555306039	chr2:187365777-187365778	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs113565174	chr2:187365869-187365870	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs368498684	chr2:187365875-187365876	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs375827538	chr2:187365911-187365912	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs201429702	chr2:187365980-187365981	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs372713111	chr2:187365997-187365998	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs201251883	chr2:187366061-187366062	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs369951838	chr2:187366064-187366065	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs374025117	chr2:187366160-187366161	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs377662501	chr2:187366163-187366164	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs371047458	chr2:187366173-187366174	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs373302711	chr2:187366200-187366201	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577148599	chr2:187366208-187366209	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541165053	chr2:187366217-187366218	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1332 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187352200-187365400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:187352200-187365400	Weak transcription	Lung	lung
3	chr2:187354000-187365200	Weak transcription	Thymus	Thymus
4	chr2:187355600-187365400	Weak transcription	Gastric	stomach
5	chr2:187355600-187365400	Weak transcription	Spleen	Spleen
6	chr2:187355600-187369000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:187355800-187370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:187356800-187368400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:187357000-187379000	Strong transcription	Fetal Thymus	thymus
10	chr2:187357400-187383000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:187357600-187382600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:187357600-187386200	Strong transcription	Dnd41	blood
13	chr2:187358200-187379000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:187358400-187366800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:187358400-187367200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr2:187358600-187379000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:187358600-187385800	Weak transcription	Esophagus	oesophagus
18	chr2:187358800-187367800	Weak transcription	Psoas Muscle	Psoas
19	chr2:187358800-187377200	Strong transcription	HepG2	liver
20	chr2:187359000-187376000	Strong transcription	GM12878-XiMat	blood
21	chr2:187359600-187386400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:187359800-187374800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:187359800-187374800	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr2:187359800-187375000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:187359800-187379000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:187359800-187379200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:187359800-187379400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:187359800-187379800	Strong transcription	HSMM	muscle
29	chr2:187359800-187380400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:187359800-187381400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:187359800-187387200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:187360000-187368000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:187360000-187368600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:187360000-187368600	Strong transcription	Adipose Nuclei	Adipose
35	chr2:187360000-187376800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:187360000-187378600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:187360000-187378800	Strong transcription	Liver	Liver
38	chr2:187360000-187379200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:187360000-187386800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:187360200-187367400	Strong transcription	Fetal Lung	lung
41	chr2:187360200-187367400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr2:187360200-187368600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:187360200-187369200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:187360200-187374400	Strong transcription	NH-A	brain
45	chr2:187360200-187374800	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr2:187360200-187374800	Strong transcription	Fetal Intestine Large	intestine
47	chr2:187360200-187375400	Strong transcription	Primary B cells from cord blood	blood
48	chr2:187360200-187376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:187360200-187377000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr2:187360200-187378600	Strong transcription	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links