Variant report

Variant	nsv913953
Chromosome Location	chr21:46012524-46031810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:220)
CpG islands
(count:610)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:220 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46013768-46014182	K562	blood:	n/a	n/a
2	ARID3A	chr21:46013320-46013718	HepG2	liver:	n/a	n/a
3	ATF1	chr21:46013788-46014363	K562	blood:	n/a	n/a
4	ATF3	chr21:46013551-46013831	HepG2	liver:	n/a	n/a
5	BACH1	chr21:46013828-46013867	K562	blood:	n/a	n/a
6	BHLHE40	chr21:46013494-46014296	K562	blood:	n/a	n/a
7	BHLHE40	chr21:46024003-46024103	K562	blood:	n/a	chr21:46024066-46024079 chr21:46024069-46024078 chr21:46024068-46024077 chr21:46024068-46024077
8	BHLHE40	chr21:46013480-46013870	HepG2	liver:	n/a	n/a
9	BHLHE40	chr21:46022581-46022689	K562	blood:	n/a	n/a
10	BHLHE40	chr21:46013465-46013847	HepG2	liver:	n/a	n/a
11	BRCA1	chr21:46013003-46013117	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr21:46013585-46014139	K562	blood:	n/a	n/a
13	CCNT2	chr21:46013834-46014226	K562	blood:	n/a	n/a
14	CEBPB	chr21:46013697-46014257	K562	blood:	n/a	n/a
15	CEBPB	chr21:46013452-46013488	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr21:46013387-46013649	HepG2	liver:	n/a	n/a
17	CEBPB	chr21:46013656-46014348	K562	blood:	n/a	n/a
18	CEBPD	chr21:46013737-46014144	K562	blood:	n/a	n/a
19	CEBPD	chr21:46013758-46014309	K562	blood:	n/a	n/a
20	CTCF	chr21:46021178-46021250	A549	lung:	n/a	n/a
21	CTCF	chr21:46021106-46021285	Fibrobl	skin:	n/a	n/a
22	CTCF	chr21:46021240-46021390	HEK293	kidney:	n/a	n/a
23	CTCF	chr21:46016283-46016335	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr21:46021131-46021397	MCF-7	breast:	n/a	n/a
25	CTCF	chr21:46027061-46027132	Lung_OC	lung:	n/a	n/a
26	CTCF	chr21:46021220-46021370	MCF-7	breast:	n/a	n/a
27	CTCF	chr21:46021124-46021391	MCF-7	breast:	n/a	n/a
28	CTCF	chr21:46021291-46021293	Fibrobl	skin:	n/a	n/a
29	CTCF	chr21:46021180-46021330	HepG2	liver:	n/a	n/a
30	CTCF	chr21:46021010-46021113	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr21:46016160-46016310	HMEC	breast:	n/a	n/a
32	CTCF	chr21:46016306-46016365	K562	blood:	n/a	n/a
33	CTCF	chr21:46021111-46021381	Gliobla	brain:	n/a	n/a
34	CTCF	chr21:46021220-46021370	GM12875	blood:	n/a	n/a
35	CTCF	chr21:46021286-46021288	Fibrobl	skin:	n/a	n/a
36	CTCF	chr21:46021072-46021265	K562	blood:	n/a	n/a
37	CTCF	chr21:46020780-46020930	HepG2	liver:	n/a	n/a
38	CTCF	chr21:46020944-46021435	K562	blood:	n/a	n/a
39	CTCF	chr21:46021200-46021350	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr21:46016180-46016330	HEK293	kidney:	n/a	n/a
41	CTCF	chr21:46016180-46016330	HepG2	liver:	n/a	n/a
42	CTCF	chr21:46021240-46021390	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr21:46016300-46016450	HEK293	kidney:	n/a	n/a
44	CTCF	chr21:46021200-46021350	GM12864	blood:	n/a	n/a
45	CTCF	chr21:46021027-46021260	LNCaP	prostate:	n/a	n/a
46	CTCF	chr21:46021220-46021370	NHEK	skin:	n/a	n/a
47	CTCF	chr21:46021121-46021403	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr21:46020936-46021077	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr21:46021140-46021290	HMEC	breast:	n/a	n/a
50	CTCF	chr21:46016300-46016450	HRE	kidney:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46012520-46012570	SK-N-MC	brain:	n/a
2	chr21:46019570-46019620	HRPEpiC	eye:	n/a
3	chr21:46020461-46020511	BE2_C	brain:	n/a
4	chr21:46012520-46012570	BE2_C	brain:	n/a
5	chr21:46013658-46013708	AG09309	skin:	n/a
6	chr21:46019376-46019426	U87	brain:	n/a
7	chr21:46021244-46021294	HCPEpiC	choroid plexus:	n/a
8	chr21:46031707-46031757	Hepatocyte	liver:	n/a
9	chr21:46021244-46021294	HCM	heart:	n/a
10	chr21:46012520-46012570	GM12892	blood:	n/a
11	chr21:46031707-46031757	NHDF-neo	bronchial:	n/a
12	chr21:46020126-46020176	GM19239	blood:	n/a
13	chr21:46020461-46020511	U87	brain:	n/a
14	chr21:46021244-46021294	GM12878	blood:	n/a
15	chr21:46019570-46019620	ProgFib	skin:	n/a
16	chr21:46021244-46021294	CMK	blood:	n/a
17	chr21:46031741-46031791	MCF-7	breast:	n/a
18	chr21:46013658-46013708	HIPEpiC	eye:	n/a
19	chr21:46021244-46021294	HRCEpiC	kidney:	n/a
20	chr21:46020126-46020176	HEEpiC	esophagus:	n/a
21	chr21:46021988-46022038	BE2_C	brain:	n/a
22	chr21:46019376-46019426	HIPEpiC	eye:	n/a
23	chr21:46020126-46020176	SKMC	muscle:	n/a
24	chr21:46021988-46022038	NB4	blood:	n/a
25	chr21:46012520-46012570	K562	blood:	n/a
26	chr21:46013658-46013708	K562	blood:	n/a
27	chr21:46012520-46012570	HIPEpiC	eye:	n/a
28	chr21:46013658-46013708	GM19239	blood:	n/a
29	chr21:46031707-46031757	NH-A	brain:	n/a
30	chr21:46021244-46021294	HRE	kidney:	n/a
31	chr21:46020126-46020176	HUVEC	blood vessel:	n/a
32	chr21:46031707-46031757	T-47D	breast:	n/a
33	chr21:46012520-46012570	SKMC	muscle:	n/a
34	chr21:46012520-46012570	PFSK-1	brain:	n/a
35	chr21:46020461-46020511	SKMC	muscle:	n/a
36	chr21:46019376-46019426	HL-60	blood:	n/a
37	chr21:46031741-46031791	NT2-D1	testis:	n/a
38	chr21:46021244-46021294	SK-N-SH	brain:	n/a
39	chr21:46013658-46013708	HPAEpiC	pulmonary alveolar:	n/a
40	chr21:46031741-46031791	GM12878	blood:	n/a
41	chr21:46020461-46020511	BJ	skin:	n/a
42	chr21:46020461-46020511	MCF-7	breast:	n/a
43	chr21:46019570-46019620	Caco-2	colon:	n/a
44	chr21:46019570-46019620	HNPCEpiC	eye:	n/a
45	chr21:46021988-46022038	AG09309	skin:	n/a
46	chr21:46031741-46031791	GM06990	blood:	n/a
47	chr21:46031741-46031791	GM12891	blood:	n/a
48	chr21:46019570-46019620	SK-N-SH	brain:	n/a
49	chr21:46012520-46012570	Jurkat	blood:	n/a
50	chr21:46021988-46022038	CMK	blood:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46013183..46015349-chr21:46017921..46020365,2	MCF-7	breast:
2	chr21:46010036..46012728-chr21:46031362..46034012,2	MCF-7	breast:
3	chr21:46023322..46027722-chr21:46030622..46034722,4	MCF-7	breast:
4	chr21:45997782..46000332-chr21:46014593..46016862,2	MCF-7	breast:
5	chr21:46010036..46012728-chr21:46031362..46034012,2	MCF-7	breast:
6	chr21:46013451..46015943-chr21:46020098..46022022,2	K562	blood:
7	chr21:46013183..46015349-chr21:46017921..46020365,2	MCF-7	breast:
8	chr21:46023116..46026036-chr21:46032352..46034707,2	K562	blood:
9	chr21:46021562..46023632-chr21:46186668..46188181,2	K562	blood:

No data

Variant related genes	Relation type
KRTAP10-7	TF binding region
ENSG00000256212	TF binding region
KRTAP10-8	TF binding region
KRTAP10-6	TF binding region
KRTAP10-7	CpG island
ENSG00000256212	CpG island
KRTAP10-8	CpG island
KRTAP10-6	CpG island
ENSG00000205441	chromatin interactions
ENSG00000256212	chromatin interactions
ENSG00000187766	chromatin interactions
ENSG00000188155	chromatin interactions

Extended variants
information (count: 905 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:905 , 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	rs418260	chr21:46012524-46012525	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143544538	chr21:46012535-46012536	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs587597756	chr21:46012553-46012554	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs587695110	chr21:46012578-46012579	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs437371	chr21:46012593-46012594	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs374470747	chr21:46012608-46012609	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs587625437	chr21:46012613-46012614	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs587680594	chr21:46012616-46012617	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs587734500	chr21:46012618-46012619	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146799181	chr21:46012624-46012625	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140607459	chr21:46012630-46012631	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs116685105	chr21:46012631-46012632	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs143723545	chr21:46012656-46012657	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs112937464	chr21:46012657-46012658	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs587702118	chr21:46012664-46012665	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs587761659	chr21:46012667-46012668	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs141024781	chr21:46012687-46012688	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs78354556	chr21:46012689-46012690	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs366534	chr21:46012699-46012700	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182836764	chr21:46012767-46012768	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs150251436	chr21:46012821-46012822	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs587714067	chr21:46012826-46012827	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs368849440	chr21:46012846-46012847	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs77112810	chr21:46012867-46012868	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs587725761	chr21:46012933-46012934	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs587621546	chr21:46012945-46012946	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs386819182	chr21:46012946-46012947	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs114873718	chr21:46012947-46012948	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs587607007	chr21:46012957-46012958	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs587667013	chr21:46012967-46012968	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587744301	chr21:46013007-46013008	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs372703770	chr21:46013016-46013017	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs60417418	chr21:46013017-46013018	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs587732930	chr21:46013049-46013050	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs78824031	chr21:46013061-46013062	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs587683144	chr21:46013066-46013067	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs587616306	chr21:46013084-46013085	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs188305046	chr21:46013097-46013098	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs587610201	chr21:46013110-46013111	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs587696532	chr21:46013115-46013116	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs376426408	chr21:46013134-46013135	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs75990719	chr21:46013168-46013169	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs192838127	chr21:46013179-46013180	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs587725428	chr21:46013206-46013207	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs587774084	chr21:46013208-46013209	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs587657965	chr21:46013261-46013262	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs587707687	chr21:46013295-46013296	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs587610782	chr21:46013319-46013320	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs433592	chr21:46013349-46013350	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs433593	chr21:46013350-46013351	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45998800-46012800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:46002400-46018200	Weak transcription	Right Atrium	heart
3	chr21:46011000-46012600	Enhancers	Fetal Muscle Leg	muscle
4	chr21:46011200-46013200	Enhancers	HepG2	liver
5	chr21:46011400-46012600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr21:46011400-46014000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:46011400-46014000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr21:46011400-46014400	Enhancers	Liver	Liver
9	chr21:46011600-46013000	Enhancers	Esophagus	oesophagus
10	chr21:46012000-46013400	Weak transcription	HMEC	breast
11	chr21:46012200-46014000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:46012200-46014000	Enhancers	Placenta	Placenta
13	chr21:46012200-46014200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:46012200-46014400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr21:46012400-46012800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:46012400-46012800	Enhancers	Spleen	Spleen
17	chr21:46012400-46013600	Bivalent Enhancer	Fetal Stomach	stomach
18	chr21:46012400-46014600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr21:46012600-46012800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr21:46012600-46013000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
21	chr21:46012600-46013000	Enhancers	K562	blood
22	chr21:46012600-46014000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr21:46012600-46014200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr21:46012600-46014200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr21:46012600-46014400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr21:46012600-46014600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr21:46012800-46013400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr21:46012800-46013400	Bivalent Enhancer	Adipose Nuclei	Adipose
29	chr21:46012800-46013600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr21:46012800-46013600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr21:46012800-46013800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:46012800-46014000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr21:46012800-46014400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr21:46013000-46013200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr21:46013000-46013200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr21:46013000-46013400	Flanking Active TSS	K562	blood
37	chr21:46013000-46013800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr21:46013000-46014000	Enhancers	GM12878-XiMat	blood
39	chr21:46013000-46014200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr21:46013000-46014400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr21:46013200-46014000	Flanking Active TSS	HepG2	liver
42	chr21:46013200-46014200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr21:46013200-46014200	Enhancers	Fetal Lung	lung
44	chr21:46013200-46014400	Enhancers	HSMMtube	muscle
45	chr21:46013400-46013600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr21:46013400-46013600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
47	chr21:46013400-46013600	Bivalent Enhancer	Stomach Mucosa	stomach
48	chr21:46013400-46013800	Enhancers	Adipose Nuclei	Adipose
49	chr21:46013400-46013800	Enhancers	Fetal Thymus	thymus
50	chr21:46013400-46013800	Enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links