Variant report

Variant	nsv546579
Chromosome Location	chr1:75197533-75200486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:986)
CpG islands
(count:796)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:986 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:75198620-75199022	K562	blood:	n/a	n/a
2	ARID3A	chr1:75196807-75197673	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:75198537-75199118	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:75199313-75199710	K562	blood:	n/a	n/a
5	ARID3A	chr1:75199334-75199705	HepG2	liver:	n/a	n/a
6	ATF1	chr1:75199418-75199743	K562	blood:	n/a	n/a
7	ATF2	chr1:75198564-75199701	GM12878	blood:	n/a	n/a
8	ATF2	chr1:75197859-75198241	GM12878	blood:	n/a	n/a
9	ATF2	chr1:75197521-75198276	GM12878	blood:	n/a	n/a
10	ATF2	chr1:75198449-75199780	GM12878	blood:	n/a	n/a
11	ATF2	chr1:75196957-75197766	GM12878	blood:	n/a	n/a
12	BACH1	chr1:75198449-75198632	K562	blood:	n/a	n/a
13	BACH1	chr1:75199266-75200027	K562	blood:	n/a	n/a
14	BATF	chr1:75197687-75198036	GM12878	blood:	n/a	n/a
15	BATF	chr1:75197646-75198232	GM12878	blood:	n/a	n/a
16	BCL11A	chr1:75197634-75198122	GM12878	blood:	n/a	n/a
17	BCL11A	chr1:75197555-75198252	GM12878	blood:	n/a	n/a
18	BCL3	chr1:75197573-75198252	GM12878	blood:	n/a	n/a
19	BCLAF1	chr1:75198313-75199218	GM12878	blood:	n/a	n/a
20	BCLAF1	chr1:75198364-75199847	GM12878	blood:	n/a	n/a
21	BHLHE40	chr1:75198536-75199741	K562	blood:	n/a	n/a
22	BHLHE40	chr1:75198482-75199133	GM12878	blood:	n/a	n/a
23	BRCA1	chr1:75198685-75199150	HepG2	liver:	n/a	n/a
24	BRCA1	chr1:75198431-75199038	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr1:75198571-75199220	K562	blood:	n/a	n/a
26	CBX3	chr1:75198680-75199103	K562	blood:	n/a	n/a
27	CCNT2	chr1:75198515-75199410	K562	blood:	n/a	n/a
28	CEBPB	chr1:75198625-75199003	K562	blood:	n/a	n/a
29	CEBPB	chr1:75198629-75199853	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr1:75198704-75198914	K562	blood:	n/a	n/a
31	CEBPB	chr1:75197224-75197716	HepG2	liver:	n/a	n/a
32	CEBPB	chr1:75197691-75198159	GM12878	blood:	n/a	n/a
33	CEBPB	chr1:75197458-75199569	GM12878	blood:	n/a	n/a
34	CEBPB	chr1:75198709-75198928	HepG2	liver:	n/a	n/a
35	CHD1	chr1:75198740-75199677	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr1:75198398-75200023	GM12878	blood:	n/a	n/a
37	CHD2	chr1:75198621-75199245	HepG2	liver:	n/a	n/a
38	CHD2	chr1:75198553-75199196	GM12878	blood:	n/a	n/a
39	CHD2	chr1:75198716-75199144	K562	blood:	n/a	n/a
40	CHD2	chr1:75198368-75199681	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr1:75197213-75198218	GM12878	blood:	n/a	n/a
42	CREB1	chr1:75198688-75198884	A549	lung:	n/a	n/a
43	CREB1	chr1:75198432-75199257	GM12878	blood:	n/a	n/a
44	CREB1	chr1:75198669-75199109	A549	lung:	n/a	n/a
45	CTCF	chr1:75199000-75199150	AG09319	gingival:	n/a	n/a
46	CTCF	chr1:75199440-75199590	BE2_C	brain:	n/a	n/a
47	CTCF	chr1:75198600-75198750	HCM	heart:	n/a	n/a
48	CTCF	chr1:75200200-75200350	HepG2	liver:	n/a	n/a
49	CTCF	chr1:75199480-75199630	GM12871	blood:	n/a	n/a
50	CTCF	chr1:75200240-75200390	AG09319	gingival:	n/a	n/a

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:75198963-75199013	U87	brain:	n/a
2	chr1:75199496-75199546	NHBE	bronchial:	n/a
3	chr1:75199100-75199150	HCM	heart:	n/a
4	chr1:75198963-75199013	U87	brain:	n/a
5	chr1:75199496-75199546	NHBE	bronchial:	n/a
6	chr1:75199100-75199150	HCM	heart:	n/a
7	chr1:75199496-75199546	HAEpiC	amniotic membrane:	n/a
8	chr1:75200094-75200144	Hela-S3	cervix:	n/a
9	chr1:75198599-75198649	HCF	heart:	n/a
10	chr1:75198211-75198261	AG09309	skin:	n/a
11	chr1:75198818-75198868	AG04450	lung:	fetal
12	chr1:75199117-75199167	U87	brain:	n/a
13	chr1:75198211-75198261	Hela-S3	cervix:	n/a
14	chr1:75198841-75198891	RPTEC	kidney:	n/a
15	chr1:75198582-75198632	ovcar-3	ovarian:	n/a
16	chr1:75199117-75199167	HAEpiC	amniotic membrane:	n/a
17	chr1:75198403-75198453	SK-N-SH	brain:	n/a
18	chr1:75199496-75199546	AG09319	gingival:	n/a
19	chr1:75198582-75198632	HRCEpiC	kidney:	n/a
20	chr1:75198841-75198891	LNCaP	prostate:	n/a
21	chr1:75198963-75199013	MCF10A-Er-Src	breast:	n/a
22	chr1:75200094-75200144	H1-hESC	embryonic stem cell:	embryo
23	chr1:75198599-75198649	AG09309	skin:	n/a
24	chr1:75198768-75198818	GM06990	blood:	n/a
25	chr1:75198211-75198261	SK-N-SH	brain:	n/a
26	chr1:75199075-75199125	AoSMC	blood vessel:	n/a
27	chr1:75200094-75200144	HEEpiC	esophagus:	n/a
28	chr1:75198582-75198632	AG10803	skin:	n/a
29	chr1:75198403-75198453	HPAEpiC	pulmonary alveolar:	n/a
30	chr1:75198841-75198891	GM19239	blood:	n/a
31	chr1:75198768-75198818	MCF-7	breast:	n/a
32	chr1:75199117-75199167	T-47D	breast:	n/a
33	chr1:75198818-75198868	LNCaP	prostate:	n/a
34	chr1:75199496-75199546	BJ	skin:	n/a
35	chr1:75198211-75198261	Jurkat	blood:	n/a
36	chr1:75200094-75200144	ProgFib	skin:	n/a
37	chr1:75198211-75198261	AG04449	skin:	fetal
38	chr1:75199496-75199546	Caco-2	colon:	n/a
39	chr1:75198211-75198261	HRE	kidney:	n/a
40	chr1:75198963-75199013	BJ	skin:	n/a
41	chr1:75199100-75199150	BJ	skin:	n/a
42	chr1:75198768-75198818	HAEpiC	amniotic membrane:	n/a
43	chr1:75199117-75199167	HCPEpiC	choroid plexus:	n/a
44	chr1:75198963-75199013	ProgFib	skin:	n/a
45	chr1:75199117-75199167	H1-hESC	embryonic stem cell:	embryo
46	chr1:75199075-75199125	NHBE	bronchial:	n/a
47	chr1:75199117-75199167	PFSK-1	brain:	n/a
48	chr1:75198818-75198868	AG04449	skin:	fetal
49	chr1:75198963-75199013	SAEC	small airway:	n/a
50	chr1:75198768-75198818	IMR90	lung:	fetal

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:75195743..75197778-chr1:75197921..75199580,2	MCF-7	breast:
2	chr1:74977554..74979985-chr1:75198825..75201036,2	K562	blood:
3	chr1:75182455..75184516-chr1:75199218..75200932,2	K562	blood:
4	chr1:75197578..75200968-chr1:75201632..75206969,6	MCF-7	breast:
5	chr1:75198658..75199512-chr3:172428576..172429251,2	Hela-S3	cervix:
6	chr1:75197237..75200127-chr1:76254006..76255529,2	K562	blood:
7	chr1:75198884..75199442-chr17:76355692..76356450,2	Hela-S3	cervix:
8	chr1:75198241..75199185-chr6:89791480..89792312,2	Hela-S3	cervix:
9	chr1:75197640..75200637-chr1:75200867..75204722,5	MCF-7	breast:
10	chr1:74969628..74970367-chr1:75199475..75200023,2	MCF-7	breast:
11	chr1:75198609..75199364-chr16:46723157..46724066,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
CRYZ	TF binding region
TYW3	TF binding region
CRYZ	CpG island
TYW3	CpG island
ENSG00000184557	chromatin interactions
ENSG00000201487	chromatin interactions
ENSG00000162623	chromatin interactions
ENSG00000146278	chromatin interactions
ENSG00000091651	chromatin interactions
ENSG00000116791	chromatin interactions
ENSG00000162621	chromatin interactions
ENSG00000144959	chromatin interactions
ENSG00000069329	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11485264	chr1:75197533-75197534	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113322523	chr1:75197534-75197535	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs28695657	chr1:75197614-75197615	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs564830019	chr1:75197633-75197634	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs532177100	chr1:75197695-75197696	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs550267689	chr1:75197721-75197722	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs562445953	chr1:75197734-75197735	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs576463728	chr1:75197767-75197768	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs373296720	chr1:75197807-75197808	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs547999179	chr1:75197822-75197823	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs534479426	chr1:75197828-75197829	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs533733385	chr1:75197836-75197837	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs113943408	chr1:75197845-75197846	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs552679357	chr1:75197848-75197849	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs55945704	chr1:75197876-75197877	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs55646417	chr1:75197880-75197881	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs139970702	chr1:75197944-75197945	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs559040752	chr1:75197948-75197949	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs538239660	chr1:75197949-75197950	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs572563592	chr1:75197950-75197951	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs556252304	chr1:75197952-75197953	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs541202109	chr1:75197953-75197954	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs145118327	chr1:75197976-75197977	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs56088553	chr1:75197995-75197996	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs370360523	chr1:75198032-75198033	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs575225280	chr1:75198060-75198061	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs536186957	chr1:75198089-75198090	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs373570306	chr1:75198100-75198101	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs114297290	chr1:75198120-75198121	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs572726201	chr1:75198121-75198122	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs377499276	chr1:75198145-75198146	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs370945985	chr1:75198147-75198148	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs374328592	chr1:75198176-75198177	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs189624944	chr1:75198210-75198211	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs113407138	chr1:75198212-75198213	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs562110753	chr1:75198228-75198229	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs59853060	chr1:75198282-75198283	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs74685049	chr1:75198292-75198293	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs56898084	chr1:75198293-75198294	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs76637369	chr1:75198295-75198296	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs529619352	chr1:75198326-75198327	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs3889133	chr1:75198345-75198346	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs560006182	chr1:75198417-75198418	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs527490761	chr1:75198542-75198543	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs552036475	chr1:75198575-75198576	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs544062024	chr1:75198632-75198633	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs368037927	chr1:75198705-75198706	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs386632465	chr1:75198740-75198741	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs532712257	chr1:75198751-75198752	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs277372	chr1:75198763-75198764	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
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
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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75174800-75198000	Weak transcription	Thymus	Thymus
2	chr1:75183000-75198400	Weak transcription	Fetal Brain Male	brain
3	chr1:75188200-75198000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:75188400-75198000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:75192200-75197600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:75192200-75197800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:75192200-75198000	Weak transcription	Gastric	stomach
8	chr1:75192400-75198000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:75192400-75198000	Weak transcription	Fetal Thymus	thymus
10	chr1:75192600-75197600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:75192800-75197600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:75194600-75198200	Weak transcription	Small Intestine	intestine
13	chr1:75194800-75198000	Weak transcription	Brain Substantia Nigra	brain
14	chr1:75194800-75198200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:75195000-75198000	Weak transcription	Esophagus	oesophagus
16	chr1:75195400-75197800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:75195600-75198000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:75195600-75200400	Active TSS	A549	lung
19	chr1:75195800-75198000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:75195800-75198400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:75196000-75197800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:75196200-75198000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:75196400-75198000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:75196400-75198200	Weak transcription	HSMMtube	muscle
25	chr1:75196400-75198400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr1:75196400-75199600	Active TSS	Fetal Kidney	kidney
27	chr1:75196600-75198400	Active TSS	HepG2	liver
28	chr1:75196800-75197600	Enhancers	HSMM	muscle
29	chr1:75196800-75197800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr1:75196800-75197800	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr1:75196800-75198000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:75196800-75198600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:75196800-75200000	Active TSS	Fetal Intestine Large	intestine
34	chr1:75197000-75197600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr1:75197000-75197800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:75197000-75197800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:75197000-75197800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:75197000-75197800	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr1:75197000-75198000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr1:75197000-75198200	Enhancers	Fetal Lung	lung
41	chr1:75197000-75198200	Flanking Active TSS	HUVEC	blood vessel
42	chr1:75197000-75199000	Active TSS	Stomach Smooth Muscle	stomach
43	chr1:75197000-75199600	Active TSS	Fetal Intestine Small	intestine
44	chr1:75197000-75199600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr1:75197200-75197600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:75197200-75197600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:75197200-75197600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:75197200-75197600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:75197200-75197600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:75197200-75197600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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