Variant report

Variant	esv3365343
Chromosome Location	chr21:45769074-45771672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:244)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr21:45769979-45770055	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr21:45771222-45771297	K562	blood:	n/a	n/a
3	CTCF	chr21:45771180-45771330	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr21:45771160-45771310	K562	blood:	n/a	n/a
5	CTCF	chr21:45771235-45771289	HepG2	liver:	n/a	n/a
6	CTCF	chr21:45771272-45771289	K562	blood:	n/a	n/a
7	CTCF	chr21:45771151-45771336	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr21:45771228-45771300	Hela-S3	cervix:	n/a	n/a
9	E2F6	chr21:45769536-45770225	H1-hESC	embryonic stem cell:	n/a	chr21:45769976-45769985 chr21:45770092-45770102 chr21:45769783-45769790 chr21:45769783-45769790 chr21:45769783-45769790 chr21:45769782-45769794
10	E2F6	chr21:45769420-45770264	H1-hESC	embryonic stem cell:	n/a	chr21:45769976-45769985 chr21:45770092-45770102 chr21:45769783-45769790 chr21:45769783-45769790 chr21:45769783-45769790 chr21:45769782-45769794
11	GABPA	chr21:45770562-45771086	H1-hESC	embryonic stem cell:	n/a	n/a
12	GABPA	chr21:45769757-45770457	H1-hESC	embryonic stem cell:	n/a	chr21:45769924-45769933 chr21:45769976-45769985
13	GABPA	chr21:45770866-45771204	H1-hESC	embryonic stem cell:	n/a	n/a
14	GABPA	chr21:45769729-45770266	H1-hESC	embryonic stem cell:	n/a	chr21:45769924-45769933 chr21:45769976-45769985
15	JUND	chr21:45769975-45770103	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr21:45769558-45770228	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr21:45769733-45770005	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr21:45769579-45770287	H1-hESC	embryonic stem cell:	n/a	n/a
19	NR3C1	chr21:45768729-45769127	A549	lung:	n/a	chr21:45768992-45769006
20	NR3C1	chr21:45768615-45769189	A549	lung:	n/a	chr21:45768992-45769006
21	NR3C1	chr21:45768716-45769135	A549	lung:	n/a	chr21:45768992-45769006
22	POLR2A	chr21:45768903-45770166	HL-60	blood:	n/a	n/a
23	POLR2A	chr21:45771222-45771433	K562	blood:	n/a	n/a
24	POLR2A	chr21:45770626-45772762	HL-60	blood:	n/a	n/a
25	POLR2A	chr21:45769184-45770792	K562	blood:	n/a	n/a
26	RAD21	chr21:45771089-45771383	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr21:45771084-45771446	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr21:45770986-45771487	H1-hESC	embryonic stem cell:	n/a	n/a
29	SUZ12	chr21:45769394-45771456	NT2-D1	testis:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45769981-45770031	NH-A	brain:	n/a
2	chr21:45769981-45770031	GM19239	blood:	n/a
3	chr21:45769981-45770031	U87	brain:	n/a
4	chr21:45770390-45770440	LNCaP	prostate:	n/a
5	chr21:45769977-45770027	NH-A	brain:	n/a
6	chr21:45769977-45770027	HMEC	breast:	n/a
7	chr21:45769981-45770031	H1-hESC	embryonic stem cell:	embryo
8	chr21:45769981-45770031	GM12892	blood:	n/a
9	chr21:45769981-45770031	HCPEpiC	choroid plexus:	n/a
10	chr21:45769977-45770027	ECC-1	luminal epithelium:	n/a
11	chr21:45769977-45770027	Hepatocyte	liver:	n/a
12	chr21:45769977-45770027	K562	blood:	n/a
13	chr21:45770390-45770440	GM12892	blood:	n/a
14	chr21:45770298-45770348	HPAEpiC	pulmonary alveolar:	n/a
15	chr21:45769977-45770027	BE2_C	brain:	n/a
16	chr21:45769977-45770027	HPAEpiC	pulmonary alveolar:	n/a
17	chr21:45769981-45770031	NHDF-neo	bronchial:	n/a
18	chr21:45769981-45770031	PANC-1	pancreas:	n/a
19	chr21:45770298-45770348	LNCaP	prostate:	n/a
20	chr21:45769977-45770027	HEK293	kidney:	embryo
21	chr21:45769977-45770027	LNCaP	prostate:	n/a
22	chr21:45770390-45770440	SK-N-SH_RA	brain:	n/a
23	chr21:45770390-45770440	SK-N-MC	brain:	n/a
24	chr21:45769981-45770031	RPTEC	kidney:	n/a
25	chr21:45770298-45770348	A549	lung:	n/a
26	chr21:45769977-45770027	HCM	heart:	n/a
27	chr21:45770390-45770440	A549	lung:	n/a
28	chr21:45769981-45770031	MCF-7	breast:	n/a
29	chr21:45769981-45770031	ProgFib	skin:	n/a
30	chr21:45770298-45770348	SK-N-SH_RA	brain:	n/a
31	chr21:45769981-45770031	Jurkat	blood:	n/a
32	chr21:45769981-45770031	PrEC	prostate:	n/a
33	chr21:45769981-45770031	AG09319	gingival:	n/a
34	chr21:45770298-45770348	BJ	skin:	n/a
35	chr21:45770390-45770440	PrEC	prostate:	n/a
36	chr21:45770298-45770348	HepG2	liver:	n/a
37	chr21:45770298-45770348	AG09309	skin:	n/a
38	chr21:45769981-45770031	Hepatocyte	liver:	n/a
39	chr21:45769981-45770031	NHBE	bronchial:	n/a
40	chr21:45769981-45770031	ECC-1	luminal epithelium:	n/a
41	chr21:45769981-45770031	HCM	heart:	n/a
42	chr21:45769981-45770031	GM12891	blood:	n/a
43	chr21:45769977-45770027	HL-60	blood:	n/a
44	chr21:45769977-45770027	PFSK-1	brain:	n/a
45	chr21:45769977-45770027	IMR90	lung:	fetal
46	chr21:45770298-45770348	ProgFib	skin:	n/a
47	chr21:45770390-45770440	HepG2	liver:	n/a
48	chr21:45769981-45770031	SAEC	small airway:	n/a
49	chr21:45770390-45770440	Hepatocyte	liver:	n/a
50	chr21:45769977-45770027	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr21:45744755..45747310-chr21:45770895..45772522,2	K562	blood:
2	chr21:45759902..45762290-chr21:45770790..45772597,2	MCF-7	breast:
3	chr21:45757779..45764116-chr21:45768144..45773804,8	K562	blood:
4	chr21:45769794..45771813-chr21:45773433..45775521,3	K562	blood:
5	chr21:45770313..45772796-chr21:45774021..45776924,3	K562	blood:
6	chr21:45765916..45768218-chr21:45769083..45771305,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260256	TF binding region
TRPM2	TF binding region
ENSG00000260256	CpG island
TRPM2	CpG island
ENSG00000232969	chromatin interactions
ENSG00000260256	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000142185	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540846379	chr21:45769082-45769083	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs58970858	chr21:45769118-45769119	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553228584	chr21:45769119-45769120	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs559078385	chr21:45769120-45769121	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs566411201	chr21:45769129-45769130	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs541029273	chr21:45769148-45769149	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs141836616	chr21:45769166-45769167	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs532911144	chr21:45769223-45769224	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs375480344	chr21:45769239-45769240	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs551053750	chr21:45769256-45769257	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs76436819	chr21:45769279-45769280	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs531113618	chr21:45769334-45769335	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs577680205	chr21:45769345-45769346	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs147107508	chr21:45769363-45769364	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs147749801	chr21:45769396-45769397	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs535547286	chr21:45769424-45769425	Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs79589746	chr21:45769452-45769453	Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs79389932	chr21:45769459-45769460	Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs539168462	chr21:45769460-45769461	Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs74521115	chr21:45769461-45769462	Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs575780759	chr21:45769508-45769509	Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs537263851	chr21:45769511-45769512	Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs140052113	chr21:45769513-45769514	Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs150298206	chr21:45769514-45769515	Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs80041373	chr21:45769581-45769582	Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs370902611	chr21:45769592-45769593	Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs552593213	chr21:45769596-45769597	Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs374274262	chr21:45769613-45769614	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs563396129	chr21:45769643-45769644	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs530452724	chr21:45769650-45769651	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs544735120	chr21:45769708-45769709	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs563067520	chr21:45769729-45769730	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs141947322	chr21:45769733-45769734	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs10713996	chr21:45769840-45769841	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs397718090	chr21:45769843-45769844	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs555016679	chr21:45769853-45769854	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs529583171	chr21:45769865-45769866	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs375447243	chr21:45769868-45769869	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs9637181	chr21:45769906-45769907	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs543215558	chr21:45769911-45769912	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs548020134	chr21:45769917-45769918	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs368825976	chr21:45769956-45769957	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs542813078	chr21:45769982-45769983	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs78739218	chr21:45770003-45770004	Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs575243113	chr21:45770027-45770028	Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs571696368	chr21:45770030-45770031	Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs371767979	chr21:45770034-45770035	Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs532572270	chr21:45770045-45770046	Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs566182244	chr21:45770057-45770058	Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs373715421	chr21:45770119-45770120	Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Williams-beuren syndrome	16826523	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45760400-45769800	Weak transcription	Right Atrium	heart
2	chr21:45760600-45769200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr21:45760600-45772400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr21:45768200-45770000	Bivalent Enhancer	Fetal Thymus	thymus
5	chr21:45768400-45771200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr21:45768400-45773200	Enhancers	Primary hematopoietic stem cells	blood
7	chr21:45768600-45769200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
8	chr21:45768600-45769400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
9	chr21:45768600-45769600	Bivalent Enhancer	Colonic Mucosa	Colon
10	chr21:45768600-45770000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr21:45768800-45769800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:45769000-45769200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:45769000-45769800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
14	chr21:45769000-45771400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr21:45769200-45769600	Bivalent Enhancer	Spleen	Spleen
16	chr21:45769200-45769800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:45769200-45770000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr21:45769200-45770000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr21:45769200-45770600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr21:45769400-45769600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr21:45769400-45769600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
22	chr21:45769400-45769800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
23	chr21:45769400-45769800	Bivalent Enhancer	Brain Hippocampus Middle	brain
24	chr21:45769400-45769800	Bivalent Enhancer	Right Ventricle	heart
25	chr21:45769400-45769800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr21:45769400-45770000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr21:45769400-45770000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr21:45769400-45770000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr21:45769400-45771200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr21:45769600-45769800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
31	chr21:45769600-45770000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr21:45769600-45770000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr21:45769600-45770800	Enhancers	Spleen	Spleen
34	chr21:45769600-45771600	Bivalent Enhancer	Primary B cells from cord blood	blood
35	chr21:45769600-45771800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr21:45769600-45772400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr21:45769800-45770000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:45769800-45770000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr21:45769800-45770000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
40	chr21:45769800-45770000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr21:45769800-45770000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr21:45769800-45770000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr21:45769800-45770000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
44	chr21:45769800-45770000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
45	chr21:45769800-45770000	Bivalent Enhancer	Fetal Lung	lung
46	chr21:45769800-45770000	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr21:45769800-45770000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
48	chr21:45769800-45770200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr21:45769800-45770200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr21:45769800-45770200	Enhancers	Liver	Liver

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