Variant report

Variant	nsv998092
Chromosome Location	chr1:58978327-59002319
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	chr1:58981474-58981836	HepG2	liver:	n/a	n/a
2	BATF	chr1:58990325-58990539	GM12878	blood:	n/a	n/a
3	CBX3	chr1:58978657-58978913	K562	blood:	n/a	n/a
4	CEBPB	chr1:58994195-58994537	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr1:58994165-58994567	IMR90	lung:	n/a	n/a
6	CEBPB	chr1:58990295-58990658	IMR90	lung:	n/a	n/a
7	CHD2	chr1:58978704-58978916	K562	blood:	n/a	n/a
8	CHD2	chr1:58981577-58981798	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr1:58981620-58981770	AG09309	skin:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
10	CTCF	chr1:58981503-58981819	Spleen_OC	spleen:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
11	CTCF	chr1:58981560-58981710	AoAF	blood vessel:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
12	CTCF	chr1:58981586-58981780	HepG2	liver:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
13	CTCF	chr1:58981600-58981750	AG09309	skin:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
14	CTCF	chr1:58981620-58981770	BE2_C	brain:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
15	CTCF	chr1:58981622-58981773	ProgFib	skin:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
16	CTCF	chr1:58981502-58981861	HepG2	liver:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
17	CTCF	chr1:58981600-58981750	SK-N-SH_RA	brain:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
18	CTCF	chr1:58981600-58981750	GM12865	blood:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
19	CTCF	chr1:58990667-58990732	Lung_OC	lung:	n/a	n/a
20	CTCF	chr1:58981620-58981770	GM12872	blood:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
21	CTCF	chr1:58981600-58981750	Caco-2	colon:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
22	CTCF	chr1:58981580-58981730	HepG2	liver:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
23	CTCF	chr1:58981342-58981466	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr1:58981600-58981750	SAEC	small airway:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
25	CTCF	chr1:58981532-58981809	H1-hESC	embryonic stem cell:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
26	CTCF	chr1:58981520-58981670	GM12878	blood:	n/a	chr1:58981661-58981669
27	CTCF	chr1:58981425-58981871	K562	blood:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
28	CTCF	chr1:58981620-58981770	GM12864	blood:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
29	CTCF	chr1:58981600-58981750	K562	blood:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
30	CTCF	chr1:58981500-58981650	HFF-Myc	foreskin:	n/a	n/a
31	CTCF	chr1:58981220-58981370	HVMF	connective:	n/a	n/a
32	CTCF	chr1:58981620-58981770	NHEK	skin:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
33	CTCF	chr1:58981600-58981750	HPF	lung:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
34	CTCF	chr1:58981582-58981783	GM10266	blood:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
35	CTCF	chr1:58981580-58981730	K562	blood:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
36	CTCF	chr1:58981620-58981770	GM12873	blood:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
37	CTCF	chr1:58981540-58981690	Caco-2	colon:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
38	CTCF	chr1:58981580-58981730	AG04449	skin:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
39	CTCF	chr1:58981600-58981750	AG10803	skin:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
40	CTCF	chr1:58981575-58981797	A549	lung:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
41	CTCF	chr1:58981500-58981650	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:58981557-58981793	GM12878	blood:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
43	CTCF	chr1:58981600-58981750	AG09319	gingival:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
44	CTCF	chr1:58981600-58981744	GM13976	blood:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
45	CTCF	chr1:58981600-58981750	BJ	skin:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
46	CTCF	chr1:58981548-58981787	Lung_OC	lung:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
47	CTCF	chr1:58981620-58981770	HPF	lung:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
48	CTCF	chr1:58981640-58981790	GM12871	blood:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
49	CTCF	chr1:58981640-58981779	GM19238	blood:	n/a	chr1:58981661-58981669 chr1:58981658-58981679
50	CTCF	chr1:58981622-58981778	NHEK	skin:	n/a	chr1:58981661-58981669 chr1:58981658-58981679

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:58986684-58986734	GM12892	blood:	n/a
2	chr1:58986684-58986734	PANC-1	pancreas:	n/a
3	chr1:58986684-58986734	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:58986684-58986734	NB4	blood:	n/a
5	chr1:58986684-58986734	A549	lung:	n/a
6	chr1:58986684-58986734	SK-N-MC	brain:	n/a
7	chr1:58986684-58986734	RPTEC	kidney:	n/a
8	chr1:58986684-58986734	MCF-7	breast:	n/a
9	chr1:58986684-58986734	HMEC	breast:	n/a
10	chr1:58986684-58986734	HAEpiC	amniotic membrane:	n/a
11	chr1:58986684-58986734	GM12891	blood:	n/a
12	chr1:58986684-58986734	AG10803	skin:	n/a
13	chr1:58986684-58986734	HEK293	kidney:	embryo
14	chr1:58986684-58986734	HRE	kidney:	n/a
15	chr1:58986684-58986734	HepG2	liver:	n/a
16	chr1:58986684-58986734	BJ	skin:	n/a
17	chr1:58986684-58986734	K562	blood:	n/a
18	chr1:58986684-58986734	SKMC	muscle:	n/a
19	chr1:58986684-58986734	BE2_C	brain:	n/a
20	chr1:58986684-58986734	Caco-2	colon:	n/a
21	chr1:58986684-58986734	HCPEpiC	choroid plexus:	n/a
22	chr1:58986684-58986734	AG09319	gingival:	n/a
23	chr1:58986684-58986734	NHBE	bronchial:	n/a
24	chr1:58986684-58986734	PrEC	prostate:	n/a
25	chr1:58986684-58986734	HRCEpiC	kidney:	n/a
26	chr1:58986684-58986734	ovcar-3	ovarian:	n/a
27	chr1:58986684-58986734	Hepatocyte	liver:	n/a
28	chr1:58986684-58986734	SK-N-SH_RA	brain:	n/a
29	chr1:58986684-58986734	AoSMC	blood vessel:	n/a
30	chr1:58986684-58986734	NT2-D1	testis:	n/a
31	chr1:58986684-58986734	SK-N-SH	brain:	n/a
32	chr1:58986684-58986734	LNCaP	prostate:	n/a
33	chr1:58986684-58986734	ECC-1	luminal epithelium:	n/a
34	chr1:58986684-58986734	ProgFib	skin:	n/a
35	chr1:58986684-58986734	CMK	blood:	n/a
36	chr1:58986684-58986734	GM12878	blood:	n/a
37	chr1:58986684-58986734	AG04449	skin:	fetal
38	chr1:58986684-58986734	MCF10A-Er-Src	breast:	n/a
39	chr1:58986684-58986734	GM06990	blood:	n/a
40	chr1:58986684-58986734	U87	brain:	n/a
41	chr1:58986684-58986734	PFSK-1	brain:	n/a
42	chr1:58986684-58986734	HRPEpiC	eye:	n/a
43	chr1:58986684-58986734	HIPEpiC	eye:	n/a
44	chr1:58986684-58986734	T-47D	breast:	n/a
45	chr1:58986684-58986734	HCT-116	colon:	n/a
46	chr1:58986684-58986734	GM19239	blood:	n/a
47	chr1:58986684-58986734	H1-hESC	embryonic stem cell:	embryo
48	chr1:58986684-58986734	AG04450	lung:	fetal
49	chr1:58986684-58986734	HL-60	blood:	n/a
50	chr1:58986684-58986734	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:58980707..58982320-chr1:58984607..58986505,2	MCF-7	breast:
2	chr1:58981813..58983510-chr1:58984271..58986975,2	K562	blood:
3	chr1:58981280..58981797-chr1:59235014..59235573,2	K562	blood:
4	chr1:58993368..58995087-chr1:58998103..59001309,3	K562	blood:
5	chr1:58981233..58982119-chr1:59118171..59118911,4	MCF-7	breast:
6	chr1:58980770..58981355-chr4:72541611..72542288,2	MCF-7	breast:
7	chr1:59000333..59003093-chr1:59009787..59012199,2	MCF-7	breast:
8	chr1:58980196..58982472-chr1:59010665..59013532,3	K562	blood:
9	chr1:58980707..58982320-chr1:58984607..58986505,2	MCF-7	breast:
10	chr1:58992969..58995087-chr1:58998392..59001677,3	K562	blood:
11	chr1:58983446..58986008-chr1:59008978..59011103,2	K562	blood:
12	chr1:58993368..58995087-chr1:58998103..59001309,3	K562	blood:
13	chr1:58980540..58982714-chr1:59039568..59041235,2	MCF-7	breast:
14	chr1:58980068..58984946-chr1:59009603..59013754,8	K562	blood:
15	chr1:58999141..59000957-chr1:59036910..59038987,2	MCF-7	breast:
16	chr1:58981185..58982066-chr1:59133242..59133931,2	K562	blood:
17	chr1:58981383..58982087-chr1:59118204..59118911,3	MCF-7	breast:
18	chr1:59000599..59004010-chr1:59008365..59012989,5	MCF-7	breast:
19	chr1:58991672..58993932-chr1:58995123..58997840,2	K562	blood:
20	chr1:58981490..58982134-chr1:59012524..59013102,2	K562	blood:
21	chr1:59001436..59003298-chr1:59241272..59243943,2	K562	blood:
22	chr1:58996624..59000149-chr1:59010740..59012850,3	MCF-7	breast:
23	chr1:58999840..59003717-chr1:59009218..59013187,5	K562	blood:
24	chr1:58981176..58982500-chr1:59117930..59118912,10	K562	blood:
25	chr1:58981796..58983981-chr1:59013881..59016702,2	K562	blood:
26	chr1:58981616..58982437-chr1:59119026..59119889,2	K562	blood:
27	chr1:58977602..58982967-chr1:59116778..59119321,4	MCF-7	breast:
28	chr1:58977617..58979668-chr1:58980963..58982878,2	K562	blood:
29	chr1:58977617..58979668-chr1:58980963..58982878,2	K562	blood:
30	chr1:58981813..58983510-chr1:58984271..58986975,2	K562	blood:
31	chr1:58990533..58993683-chr1:59038930..59041030,3	MCF-7	breast:
32	chr1:58989809..58991764-chr1:59011024..59013989,2	MCF-7	breast:
33	chr1:58997263..58999485-chr1:59008209..59009730,2	K562	blood:
34	chr1:58981623..58982157-chr1:59012048..59012987,2	MCF-7	breast:
35	chr1:58992969..58995087-chr1:58998392..59001677,3	K562	blood:
36	chr1:58980558..58982758-chr1:59159727..59161929,2	K562	blood:

Variant related genes	Relation type
OMA1	TF binding region
OMA1	CpG island
ENSG00000162600	chromatin interactions
ENSG00000173406	chromatin interactions

Extended variants
information (count: 912 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:912 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144255301	chr1:58978331-58978332	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs192838536	chr1:58978332-58978333	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs57318433	chr1:58978336-58978337	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148294932	chr1:58978379-58978380	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs551818592	chr1:58978388-58978389	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571643498	chr1:58978392-58978393	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs6656025	chr1:58978397-58978398	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs11207247	chr1:58978423-58978424	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs369978805	chr1:58978435-58978436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185377990	chr1:58978453-58978454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11805031	chr1:58978478-58978479	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs553100090	chr1:58978497-58978498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573077812	chr1:58978552-58978553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142066958	chr1:58978599-58978600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6667703	chr1:58978601-58978602	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs537247140	chr1:58978604-58978605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146323986	chr1:58978606-58978607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560652666	chr1:58978730-58978731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188693318	chr1:58978741-58978742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34091956	chr1:58978772-58978773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139319567	chr1:58978779-58978780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193288182	chr1:58978827-58978828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528808700	chr1:58978840-58978841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552084867	chr1:58978852-58978853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538549738	chr1:58978952-58978953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183749233	chr1:58978963-58978964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530934046	chr1:58978975-58978976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558966097	chr1:58978996-58978997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550956034	chr1:58979022-58979023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567672688	chr1:58979027-58979028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536724142	chr1:58979068-58979069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17117608	chr1:58979158-58979159	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566643794	chr1:58979166-58979167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144074712	chr1:58979221-58979222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150589089	chr1:58979263-58979264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570870171	chr1:58979278-58979279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558425326	chr1:58979292-58979293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11808738	chr1:58979488-58979489	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs543813601	chr1:58979499-58979500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139662617	chr1:58979559-58979560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372960717	chr1:58979573-58979574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188468101	chr1:58979615-58979616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553068713	chr1:58979620-58979621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7515056	chr1:58979627-58979628	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs559727514	chr1:58979769-58979770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542933401	chr1:58979891-58979892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528685075	chr1:58979923-58979924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149743627	chr1:58979938-58979939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376299381	chr1:58980091-58980092	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs145479666	chr1:58980137-58980138	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
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
Melanoma	17363583	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58931200-59010800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:58933800-58984800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:58934800-58994000	Weak transcription	HSMM	muscle
4	chr1:58946200-58979600	Weak transcription	GM12878-XiMat	blood
5	chr1:58946400-58993800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:58953200-58986000	Weak transcription	Colonic Mucosa	Colon
7	chr1:58953600-58999200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:58955000-58986400	Weak transcription	Gastric	stomach
9	chr1:58955000-58988200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:58963800-58999000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:58964200-58978600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:58964800-58986400	Weak transcription	K562	blood
13	chr1:58966600-59010600	Weak transcription	Placenta	Placenta
14	chr1:58967600-59010600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:58968200-58986400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:58968400-58984600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:58973800-58980600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr1:58974400-58978600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:58974600-58987600	Weak transcription	Right Ventricle	heart
20	chr1:58974800-58978800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:58974800-58981800	Weak transcription	Brain Substantia Nigra	brain
22	chr1:58974800-58984600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:58974800-58984600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:58974800-58984800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:58974800-58991600	Weak transcription	Esophagus	oesophagus
26	chr1:58974800-59005000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:58974800-59010800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:58974800-59011800	Weak transcription	Spleen	Spleen
29	chr1:58975000-59010600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:58975000-59010800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:58976000-58978600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:58976600-58978400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:58976600-58980600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:58976800-58978400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr1:58976800-58980400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:58977000-58979000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:58977000-58980200	Strong transcription	Liver	Liver
38	chr1:58977000-58980800	Strong transcription	Primary T cells from cord blood	blood
39	chr1:58977000-58980800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:58977000-58993000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr1:58977200-58979800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:58977200-58980200	Weak transcription	NHEK	skin
43	chr1:58977200-58980800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:58977200-58981800	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:58977200-58982400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:58977200-58984600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:58977200-58994000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:58977200-59005000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:58977200-59010800	Weak transcription	Brain Angular Gyrus	brain
50	chr1:58977200-59011400	Weak transcription	Ovary	ovary

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