Variant report

Variant	esv3442899
Chromosome Location	chr21:45787949-45790697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45790188-45790525	HepG2	liver:	n/a	n/a
2	BACH1	chr21:45788774-45789216	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr21:45789874-45790482	HepG2	liver:	n/a	n/a
4	BHLHE40	chr21:45789875-45790151	K562	blood:	n/a	n/a
5	BRCA1	chr21:45790286-45790540	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr21:45790293-45790442	HepG2	liver:	n/a	n/a
7	CEBPB	chr21:45790234-45790463	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr21:45790486-45790489	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr21:45789000-45789150	K562	blood:	n/a	n/a
10	CTCF	chr21:45789089-45789288	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr21:45789180-45789330	HMEC	breast:	n/a	n/a
12	CTCF	chr21:45789143-45789262	K562	blood:	n/a	n/a
13	CTCF	chr21:45789186-45789208	K562	blood:	n/a	n/a
14	CTCF	chr21:45789077-45789293	MCF-7	breast:	n/a	n/a
15	CTCF	chr21:45789080-45789230	Caco-2	colon:	n/a	n/a
16	CTCF	chr21:45789200-45789350	NHEK	skin:	n/a	n/a
17	CTCF	chr21:45789100-45789250	A549	lung:	n/a	n/a
18	CTCF	chr21:45789060-45789210	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr21:45789117-45789253	MCF-7	breast:	n/a	n/a
20	CTCF	chr21:45789120-45789270	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr21:45789083-45789310	HepG2	liver:	n/a	n/a
22	CTCF	chr21:45789080-45789230	HEK293	kidney:	n/a	n/a
23	CTCF	chr21:45789100-45789250	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr21:45789100-45789250	HepG2	liver:	n/a	n/a
25	CTCF	chr21:45789098-45789276	MCF-7	breast:	n/a	n/a
26	CTCF	chr21:45789120-45789270	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr21:45789058-45789345	K562	blood:	n/a	n/a
28	CTCF	chr21:45789080-45789330	RPTEC	kidney:	n/a	n/a
29	CTCF	chr21:45789102-45789247	A549	lung:	n/a	n/a
30	CTCF	chr21:45789120-45789270	Caco-2	colon:	n/a	n/a
31	CTCF	chr21:45789040-45789190	RPTEC	kidney:	n/a	n/a
32	CTCF	chr21:45789107-45789258	MCF-7	breast:	n/a	n/a
33	CTCF	chr21:45789140-45789290	HRE	kidney:	n/a	n/a
34	CTCF	chr21:45789117-45789250	MCF-7	breast:	n/a	n/a
35	CTCF	chr21:45789120-45789270	MCF-7	breast:	n/a	n/a
36	CTCF	chr21:45789065-45789310	K562	blood:	n/a	n/a
37	E2F6	chr21:45789831-45790125	K562	blood:	n/a	n/a
38	EGR1	chr21:45789806-45790032	K562	blood:	n/a	n/a
39	EGR1	chr21:45789152-45789422	K562	blood:	n/a	n/a
40	EGR1	chr21:45789797-45790063	K562	blood:	n/a	n/a
41	EP300	chr21:45789917-45790040	K562	blood:	n/a	n/a
42	EP300	chr21:45789837-45790171	HepG2	liver:	n/a	n/a
43	ESR1	chr21:45789931-45790244	ECC-1	luminal epithelium:	n/a	n/a
44	FOS	chr21:45790175-45790570	MCF10A-Er-Src	breast:	n/a	chr21:45790332-45790339 chr21:45790330-45790340 chr21:45790432-45790441 chr21:45790331-45790340 chr21:45790331-45790339
45	FOS	chr21:45790185-45790570	MCF10A-Er-Src	breast:	n/a	chr21:45790332-45790339 chr21:45790330-45790340 chr21:45790432-45790441 chr21:45790331-45790340 chr21:45790331-45790339
46	FOS	chr21:45790175-45790526	MCF10A-Er-Src	breast:	n/a	chr21:45790332-45790339 chr21:45790330-45790340 chr21:45790432-45790441 chr21:45790331-45790340 chr21:45790331-45790339
47	FOS	chr21:45790166-45790577	MCF10A-Er-Src	breast:	n/a	chr21:45790332-45790339 chr21:45790330-45790340 chr21:45790432-45790441 chr21:45790331-45790340 chr21:45790331-45790339
48	FOSL2	chr21:45790089-45790595	HepG2	liver:	n/a	chr21:45790330-45790341 chr21:45790332-45790339 chr21:45790330-45790340 chr21:45790432-45790441 chr21:45790331-45790340 chr21:45790331-45790339
49	FOSL2	chr21:45790112-45790667	SK-N-SH	brain:	n/a	chr21:45790330-45790341 chr21:45790332-45790339 chr21:45790330-45790340 chr21:45790432-45790441 chr21:45790331-45790340 chr21:45790331-45790339
50	FOSL2	chr21:45790073-45790672	MCF-7	breast:	n/a	chr21:45790330-45790341 chr21:45790332-45790339 chr21:45790330-45790340 chr21:45790432-45790441 chr21:45790331-45790340 chr21:45790331-45790339

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45789363-45789413	A549	lung:	n/a
2	chr21:45789122-45789172	Caco-2	colon:	n/a
3	chr21:45789122-45789172	AG09319	gingival:	n/a
4	chr21:45789122-45789172	MCF10A-Er-Src	breast:	n/a
5	chr21:45789363-45789413	Caco-2	colon:	n/a
6	chr21:45789363-45789413	U87	brain:	n/a
7	chr21:45789178-45789228	T-47D	breast:	n/a
8	chr21:45789178-45789228	A549	lung:	n/a
9	chr21:45789379-45789429	ECC-1	luminal epithelium:	n/a
10	chr21:45789379-45789429	ProgFib	skin:	n/a
11	chr21:45789363-45789413	HRE	kidney:	n/a
12	chr21:45789178-45789228	HMEC	breast:	n/a
13	chr21:45789379-45789429	AoSMC	blood vessel:	n/a
14	chr21:45789379-45789429	U87	brain:	n/a
15	chr21:45789379-45789429	NT2-D1	testis:	n/a
16	chr21:45789363-45789413	HIPEpiC	eye:	n/a
17	chr21:45789178-45789228	HRCEpiC	kidney:	n/a
18	chr21:45789178-45789228	NHBE	bronchial:	n/a
19	chr21:45789363-45789413	PrEC	prostate:	n/a
20	chr21:45789379-45789429	HEK293	kidney:	embryo
21	chr21:45789379-45789429	HepG2	liver:	n/a
22	chr21:45789363-45789413	SKMC	muscle:	n/a
23	chr21:45789379-45789429	AG09319	gingival:	n/a
24	chr21:45789178-45789228	HEEpiC	esophagus:	n/a
25	chr21:45789178-45789228	PFSK-1	brain:	n/a
26	chr21:45789122-45789172	HNPCEpiC	eye:	n/a
27	chr21:45789178-45789228	NB4	blood:	n/a
28	chr21:45789178-45789228	AG09319	gingival:	n/a
29	chr21:45789178-45789228	K562	blood:	n/a
30	chr21:45789122-45789172	GM06990	blood:	n/a
31	chr21:45789363-45789413	AG09319	gingival:	n/a
32	chr21:45789379-45789429	HEEpiC	esophagus:	n/a
33	chr21:45789379-45789429	Jurkat	blood:	n/a
34	chr21:45789122-45789172	IMR90	lung:	fetal
35	chr21:45789178-45789228	MCF10A-Er-Src	breast:	n/a
36	chr21:45789379-45789429	NHBE	bronchial:	n/a
37	chr21:45789122-45789172	BJ	skin:	n/a
38	chr21:45789122-45789172	SK-N-SH	brain:	n/a
39	chr21:45789178-45789228	IMR90	lung:	fetal
40	chr21:45789178-45789228	GM19239	blood:	n/a
41	chr21:45789122-45789172	K562	blood:	n/a
42	chr21:45789379-45789429	AG10803	skin:	n/a
43	chr21:45789178-45789228	HAEpiC	amniotic membrane:	n/a
44	chr21:45789122-45789172	BE2_C	brain:	n/a
45	chr21:45789379-45789429	A549	lung:	n/a
46	chr21:45789178-45789228	Hepatocyte	liver:	n/a
47	chr21:45789363-45789413	HCT-116	colon:	n/a
48	chr21:45789178-45789228	HIPEpiC	eye:	n/a
49	chr21:45789122-45789172	AoSMC	blood vessel:	n/a
50	chr21:45789379-45789429	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45789259..45790797-chr21:45809641..45812634,2	MCF-7	breast:
2	chr21:45783291..45785038-chr21:45790105..45792428,2	MCF-7	breast:
3	chr21:45789103..45790840-chr21:45794560..45797280,2	K562	blood:
4	chr21:45759142..45761625-chr21:45788983..45791784,2	MCF-7	breast:
5	chr21:45758998..45760559-chr21:45788952..45791849,2	K562	blood:
6	chr21:45757475..45759268-chr21:45785773..45788558,2	K562	blood:
7	chr21:45757587..45760440-chr21:45787714..45792009,6	MCF-7	breast:
8	chr21:45790566..45792550-chr21:45794987..45797121,2	MCF-7	breast:
9	chr21:45790478..45792111-chr21:45794072..45795936,2	MCF-7	breast:

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

Extended variants
information (count: 159 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529833162	chr21:45787961-45787962	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs9982831	chr21:45788034-45788035	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560165689	chr21:45788065-45788066	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527882927	chr21:45788066-45788067	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs137995404	chr21:45788076-45788077	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs9982584	chr21:45788120-45788121	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531879050	chr21:45788121-45788122	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549788595	chr21:45788160-45788161	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568346302	chr21:45788199-45788200	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs143551760	chr21:45788225-45788226	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs547593415	chr21:45788260-45788261	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370967403	chr21:45788269-45788270	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375993744	chr21:45788307-45788308	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs147171517	chr21:45788319-45788320	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs572201969	chr21:45788378-45788379	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs542741497	chr21:45788433-45788434	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546776808	chr21:45788515-45788516	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558785474	chr21:45788529-45788530	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs181196220	chr21:45788555-45788556	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs538122877	chr21:45788557-45788558	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs555102252	chr21:45788561-45788562	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs556388714	chr21:45788604-45788605	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573489958	chr21:45788610-45788611	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs373744757	chr21:45788611-45788612	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs541763646	chr21:45788615-45788616	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559998971	chr21:45788620-45788621	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs45580936	chr21:45788649-45788650	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs139550536	chr21:45788686-45788687	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546034975	chr21:45788705-45788706	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs540813102	chr21:45788717-45788718	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs564317726	chr21:45788726-45788727	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs531914008	chr21:45788733-45788734	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs550074158	chr21:45788737-45788738	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs149299583	chr21:45788799-45788800	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs529272725	chr21:45788810-45788811	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs549713009	chr21:45788816-45788817	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs376640060	chr21:45788820-45788821	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs559375420	chr21:45788834-45788835	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs547763176	chr21:45788837-45788838	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs566089864	chr21:45788841-45788842	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs539921160	chr21:45788842-45788843	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs185798312	chr21:45788844-45788845	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs570676054	chr21:45788847-45788848	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs538012370	chr21:45788877-45788878	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs556188733	chr21:45788886-45788887	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs376871237	chr21:45788954-45788955	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs574634599	chr21:45788960-45788961	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs535143712	chr21:45789008-45789009	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs111416896	chr21:45789009-45789010	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs34543751	chr21:45789011-45789012	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Williams-beuren syndrome	16826523	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45771200-45795800	Weak transcription	Brain Angular Gyrus	brain
2	chr21:45771800-45788800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr21:45774800-45788600	Weak transcription	Brain Anterior Caudate	brain
4	chr21:45776600-45794600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr21:45780200-45793600	Weak transcription	Primary T cells from cord blood	blood
6	chr21:45780400-45795000	Weak transcription	Thymus	Thymus
7	chr21:45783200-45792600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr21:45783400-45789000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr21:45783600-45794400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr21:45783800-45794600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr21:45784200-45788800	Weak transcription	Gastric	stomach
12	chr21:45784200-45793800	Weak transcription	Primary B cells from cord blood	blood
13	chr21:45784400-45788200	Weak transcription	Fetal Thymus	thymus
14	chr21:45784400-45788800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr21:45784400-45788800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr21:45784400-45789000	Weak transcription	Adipose Nuclei	Adipose
17	chr21:45784400-45795600	Weak transcription	Right Atrium	heart
18	chr21:45784800-45789000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr21:45786000-45788000	Strong transcription	Spleen	Spleen
20	chr21:45786400-45788200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:45787600-45788400	Strong transcription	Brain Cingulate Gyrus	brain
22	chr21:45787600-45788800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr21:45787800-45788600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:45788000-45788800	Weak transcription	Spleen	Spleen
25	chr21:45788200-45793200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr21:45788600-45788800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr21:45788600-45788800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr21:45788600-45788800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr21:45788600-45788800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:45788600-45789000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:45788600-45789000	Bivalent Enhancer	Brain Anterior Caudate	brain
32	chr21:45788800-45789000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr21:45788800-45789000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:45788800-45789000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr21:45788800-45789000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
36	chr21:45788800-45789000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
37	chr21:45788800-45789000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr21:45788800-45789000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr21:45788800-45789200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr21:45788800-45789200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr21:45788800-45789200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr21:45788800-45789200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr21:45788800-45789200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
44	chr21:45788800-45789200	Genic enhancers	Spleen	Spleen
45	chr21:45788800-45789400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr21:45788800-45789400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr21:45788800-45789400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
48	chr21:45788800-45789400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr21:45788800-45789400	Bivalent Enhancer	Colonic Mucosa	Colon
50	chr21:45788800-45789400	Enhancers	Gastric	stomach

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