Variant report

Variant	nsv821386
Chromosome Location	chr21:45618957-45621749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr21:45619441-45619519	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr21:45619426-45619622	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr21:45619315-45619695	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr21:45619188-45619821	H1-hESC	embryonic stem cell:	n/a	n/a
5	EGR1	chr21:45619341-45619664	H1-hESC	embryonic stem cell:	n/a	n/a
6	EP300	chr21:45619295-45619688	H1-hESC	embryonic stem cell:	n/a	n/a
7	GATA2	chr21:45621258-45621452	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr21:45621316-45621542	MCF-7	breast:	n/a	n/a
9	GATA3	chr21:45620986-45621619	MCF-7	breast:	n/a	n/a
10	GATA3	chr21:45621141-45621571	T-47D	breast:	n/a	n/a
11	GATA3	chr21:45621142-45621611	MCF-7	breast:	n/a	n/a
12	GATA3	chr21:45621020-45621547	MCF-7	breast:	n/a	n/a
13	GATA3	chr21:45621149-45621580	T-47D	breast:	n/a	n/a
14	GTF2F1	chr21:45619491-45619566	H1-hESC	embryonic stem cell:	n/a	n/a
15	HDAC2	chr21:45621226-45621615	MCF-7	breast:	n/a	n/a
16	JUN	chr21:45619451-45619644	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUN	chr21:45621649-45623265	K562	blood:	n/a	chr21:45622704-45622717
18	JUND	chr21:45619595-45619702	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr21:45619325-45619719	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr21:45619437-45619539	GM12878	blood:	n/a	n/a
21	MAX	chr21:45619242-45619829	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr21:45619288-45619712	H1-hESC	embryonic stem cell:	n/a	n/a
23	MXI1	chr21:45619461-45619560	GM12878	blood:	n/a	n/a
24	MXI1	chr21:45619322-45619628	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr21:45619375-45619651	H1-hESC	embryonic stem cell:	n/a	n/a
26	NR2F2	chr21:45621050-45621513	MCF-7	breast:	n/a	n/a
27	NR2F2	chr21:45621083-45621677	MCF-7	breast:	n/a	n/a
28	POLR2A	chr21:45621068-45624634	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr21:45620943-45625764	PFSK-1	brain:	n/a	n/a
30	POU2F2	chr21:45619409-45619587	GM12878	blood:	n/a	chr21:45619515-45619528
31	POU2F2	chr21:45619275-45619788	GM12878	blood:	n/a	chr21:45619515-45619528
32	POU2F2	chr21:45619288-45619698	GM12891	blood:	n/a	chr21:45619515-45619528
33	POU2F2	chr21:45619328-45619707	GM12878	blood:	n/a	chr21:45619515-45619528
34	POU2F2	chr21:45619297-45619644	GM12891	blood:	n/a	chr21:45619515-45619528
35	RCOR1	chr21:45621180-45621411	K562	blood:	n/a	n/a
36	RUNX3	chr21:45620662-45621038	GM12878	blood:	n/a	n/a
37	RUNX3	chr21:45620722-45620950	GM12878	blood:	n/a	n/a
38	SIN3A	chr21:45619321-45619614	H1-hESC	embryonic stem cell:	n/a	n/a
39	SIN3AK20	chr21:45621127-45621607	MCF-7	breast:	n/a	n/a
40	SP1	chr21:45619376-45619673	H1-hESC	embryonic stem cell:	n/a	chr21:45619540-45619551
41	SP1	chr21:45619347-45619667	H1-hESC	embryonic stem cell:	n/a	chr21:45619540-45619551
42	TCF12	chr21:45619289-45619548	H1-hESC	embryonic stem cell:	n/a	n/a
43	TCF12	chr21:45619317-45619610	GM12878	blood:	n/a	n/a
44	TCF3	chr21:45619400-45619543	GM12878	blood:	n/a	n/a
45	TEAD4	chr21:45619405-45619777	H1-hESC	embryonic stem cell:	n/a	n/a
46	USF1	chr21:45619311-45619581	H1-hESC	embryonic stem cell:	n/a	n/a
47	USF1	chr21:45619313-45619581	H1-hESC	embryonic stem cell:	n/a	n/a
48	USF2	chr21:45619460-45619607	H1-hESC	embryonic stem cell:	n/a	n/a
49	YY1	chr21:45619307-45619695	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr21:45619340-45619542	GM12891	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45619449-45619499	HPAEpiC	pulmonary alveolar:	n/a
2	chr21:45619449-45619499	SK-N-SH	brain:	n/a
3	chr21:45619449-45619499	NT2-D1	testis:	n/a
4	chr21:45619449-45619499	RPTEC	kidney:	n/a
5	chr21:45619449-45619499	ovcar-3	ovarian:	n/a
6	chr21:45619449-45619499	SAEC	small airway:	n/a
7	chr21:45619449-45619499	MCF10A-Er-Src	breast:	n/a
8	chr21:45619449-45619499	HRPEpiC	eye:	n/a
9	chr21:45619449-45619499	HCF	heart:	n/a
10	chr21:45619449-45619499	HAEpiC	amniotic membrane:	n/a
11	chr21:45619449-45619499	AG04449	skin:	fetal
12	chr21:45619449-45619499	NB4	blood:	n/a
13	chr21:45619449-45619499	IMR90	lung:	fetal
14	chr21:45619449-45619499	HEEpiC	esophagus:	n/a
15	chr21:45619449-45619499	AG09309	skin:	n/a
16	chr21:45619449-45619499	T-47D	breast:	n/a
17	chr21:45619449-45619499	NH-A	brain:	n/a
18	chr21:45619449-45619499	GM12878	blood:	n/a
19	chr21:45619449-45619499	AG09319	gingival:	n/a
20	chr21:45619449-45619499	MCF-7	breast:	n/a
21	chr21:45619449-45619499	GM12892	blood:	n/a
22	chr21:45619449-45619499	H1-hESC	embryonic stem cell:	embryo
23	chr21:45619449-45619499	Caco-2	colon:	n/a
24	chr21:45619449-45619499	A549	lung:	n/a
25	chr21:45619449-45619499	AoSMC	blood vessel:	n/a
26	chr21:45619449-45619499	NHDF-neo	bronchial:	n/a
27	chr21:45619449-45619499	CMK	blood:	n/a
28	chr21:45619449-45619499	LNCaP	prostate:	n/a
29	chr21:45619449-45619499	GM19239	blood:	n/a
30	chr21:45619449-45619499	HRCEpiC	kidney:	n/a
31	chr21:45619449-45619499	K562	blood:	n/a
32	chr21:45619449-45619499	BJ	skin:	n/a
33	chr21:45619449-45619499	SKMC	muscle:	n/a
34	chr21:45619449-45619499	ProgFib	skin:	n/a
35	chr21:45619449-45619499	GM12891	blood:	n/a
36	chr21:45619449-45619499	BE2_C	brain:	n/a
37	chr21:45619449-45619499	SK-N-MC	brain:	n/a
38	chr21:45619449-45619499	HMEC	breast:	n/a
39	chr21:45619449-45619499	AG10803	skin:	n/a
40	chr21:45619449-45619499	HCM	heart:	n/a
41	chr21:45619449-45619499	HNPCEpiC	eye:	n/a
42	chr21:45619449-45619499	Hela-S3	cervix:	n/a
43	chr21:45619449-45619499	HCT-116	colon:	n/a
44	chr21:45619449-45619499	GM06990	blood:	n/a
45	chr21:45619449-45619499	AG04450	lung:	fetal
46	chr21:45619449-45619499	HEK293	kidney:	embryo
47	chr21:45619449-45619499	HRE	kidney:	n/a
48	chr21:45619449-45619499	Jurkat	blood:	n/a
49	chr21:45619449-45619499	HCPEpiC	choroid plexus:	n/a
50	chr21:45619449-45619499	Hepatocyte	liver:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45612993..45620081-chr21:45620303..45625017,17	MCF-7	breast:
2	chr21:45620857..45623394-chr21:45709649..45711804,3	MCF-7	breast:
3	chr21:45621014..45624737-chr21:45625090..45629806,7	K562	blood:
4	chr21:45620341..45625358-chr21:45718389..45721509,5	MCF-7	breast:
5	chr21:45577492..45580364-chr21:45620942..45622616,2	K562	blood:
6	chr21:45621565..45624005-chr21:45712576..45714212,3	MCF-7	breast:
7	chr21:45619816..45631884-chr21:45656529..45663802,30	MCF-7	breast:
8	chr21:45620311..45631567-chr21:45651002..45670824,52	MCF-7	breast:
9	chr21:45621411..45624934-chr21:45718058..45721352,4	MCF-7	breast:
10	chr21:45614676..45619255-chr21:45657692..45665676,14	MCF-7	breast:
11	chr21:45621014..45626357-chr21:45626432..45630019,5	K562	blood:
12	chr21:45588739..45594310-chr21:45621185..45624296,6	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ICOSLG-1	chr21:45621679-45621840	NONHSAT082494
2	lnc-ICOSLG-2	chr21:45620693-45621216	XLOC_014114
3	lnc-C21orf33-2	chr21:45621173-45621840	XLOC_013967
4	lnc-ICOSLG-2	chr21:45619132-45620582	XLOC_014114

No data

Variant related genes	Relation type
ENSG00000232124	TF binding region
ENSG00000232124	CpG island
ENSG00000232698	chromatin interactions
ENSG00000232124	chromatin interactions
ENSG00000160224	chromatin interactions
ENSG00000267913	chromatin interactions
ENSG00000225331	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000232010	chromatin interactions
ENSG00000141959	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559231735	chr21:45618968-45618969	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs577440795	chr21:45618998-45618999	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544609633	chr21:45619005-45619006	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372646462	chr21:45619010-45619011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552036765	chr21:45619012-45619013	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562699048	chr21:45619132-45619133	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs7280491	chr21:45619134-45619135	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	mRNA abundance
8	rs144975238	chr21:45619148-45619149	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs560472450	chr21:45619168-45619169	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs112990975	chr21:45619170-45619171	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs113229809	chr21:45619174-45619175	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs560196923	chr21:45619182-45619183	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs528297794	chr21:45619185-45619186	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs13050343	chr21:45619248-45619249	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs13047320	chr21:45619249-45619250	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs111471617	chr21:45619250-45619251	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs112874163	chr21:45619278-45619279	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs202041183	chr21:45619286-45619287	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs373551020	chr21:45619287-45619288	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs12483372	chr21:45619367-45619368	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529208153	chr21:45619395-45619396	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs553442652	chr21:45619415-45619416	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs114550110	chr21:45619420-45619421	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs374002388	chr21:45619430-45619431	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs114638073	chr21:45619433-45619434	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs548869514	chr21:45619444-45619445	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs372351934	chr21:45619475-45619476	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs566552566	chr21:45619482-45619483	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs534416211	chr21:45619504-45619505	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs73907113	chr21:45619519-45619520	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs13050639	chr21:45619607-45619608	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs577476320	chr21:45619624-45619625	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs538202918	chr21:45619628-45619629	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs186446766	chr21:45619646-45619647	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs569530423	chr21:45619679-45619680	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs574527308	chr21:45619685-45619686	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs541799778	chr21:45619699-45619700	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs189728052	chr21:45619807-45619808	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs572171017	chr21:45619899-45619900	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs374210128	chr21:45619938-45619939	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs140472655	chr21:45619958-45619959	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs532335018	chr21:45619973-45619974	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs370816887	chr21:45619979-45619980	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs180921134	chr21:45619983-45619984	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs562758707	chr21:45620079-45620080	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs199541916	chr21:45620082-45620083	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs62228209	chr21:45620087-45620088	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs552063411	chr21:45620130-45620131	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs575362347	chr21:45620158-45620159	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs548181247	chr21:45620185-45620186	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	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
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Down syndrome	21154855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45614800-45622400	Weak transcription	Pancreas	Pancrea
2	chr21:45615000-45623200	Weak transcription	Brain Hippocampus Middle	brain
3	chr21:45615400-45622200	Weak transcription	Fetal Lung	lung
4	chr21:45616600-45619400	Weak transcription	Stomach Mucosa	stomach
5	chr21:45616600-45622000	Weak transcription	Lung	lung
6	chr21:45616600-45622200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:45616600-45622200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr21:45616800-45621600	Weak transcription	Esophagus	oesophagus
9	chr21:45616800-45622000	Weak transcription	Left Ventricle	heart
10	chr21:45616800-45622200	Weak transcription	Fetal Intestine Small	intestine
11	chr21:45616800-45622200	Weak transcription	Spleen	Spleen
12	chr21:45616800-45626600	Weak transcription	Thymus	Thymus
13	chr21:45617000-45622400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr21:45617000-45626000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr21:45617200-45619400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:45617200-45622200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr21:45617200-45622600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:45617200-45623200	Weak transcription	GM12878-XiMat	blood
19	chr21:45617200-45624000	Weak transcription	Gastric	stomach
20	chr21:45617200-45626200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr21:45617400-45622400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr21:45617400-45622400	Weak transcription	Right Atrium	heart
23	chr21:45617400-45622600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr21:45617400-45622600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr21:45617400-45622600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr21:45617400-45622600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:45617400-45624200	Weak transcription	Brain Substantia Nigra	brain
28	chr21:45617400-45624200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr21:45617400-45626000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr21:45617600-45622000	Weak transcription	Right Ventricle	heart
31	chr21:45617600-45622200	Weak transcription	Primary B cells from cord blood	blood
32	chr21:45617600-45622200	Weak transcription	K562	blood
33	chr21:45617600-45622400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr21:45618000-45622000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr21:45618000-45622000	Weak transcription	Fetal Muscle Leg	muscle
36	chr21:45618800-45619000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr21:45619400-45619800	Enhancers	Stomach Mucosa	stomach
38	chr21:45619400-45620000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr21:45619600-45620000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr21:45619800-45620000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr21:45619800-45623400	Weak transcription	Stomach Mucosa	stomach
42	chr21:45620000-45622000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr21:45620000-45623600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr21:45620200-45622000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr21:45620400-45622800	Weak transcription	Brain Anterior Caudate	brain
46	chr21:45621200-45622200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr21:45621400-45622200	Enhancers	Placenta	Placenta
48	chr21:45621600-45623000	Enhancers	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links