Variant report

Variant	esv3498135
Chromosome Location	chr21:46392474-46394572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:110)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:110 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:46392310-46392567	K562	blood:	n/a	n/a
2	CTCF	chr21:46392420-46392570	GM12870	blood:	n/a	n/a
3	CTCF	chr21:46392352-46392585	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr21:46392430-46392538	MCF-7	breast:	n/a	n/a
5	CTCF	chr21:46392485-46392513	GM12892	blood:	n/a	n/a
6	CTCF	chr21:46392360-46392510	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr21:46392396-46392577	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr21:46392410-46392576	K562	blood:	n/a	n/a
9	CTCF	chr21:46392360-46392510	K562	blood:	n/a	n/a
10	CTCF	chr21:46392380-46392530	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr21:46392380-46392530	GM12873	blood:	n/a	n/a
12	CTCF	chr21:46392400-46392550	GM12872	blood:	n/a	n/a
13	CTCF	chr21:46392461-46392525	MCF-7	breast:	n/a	n/a
14	CTCF	chr21:46392391-46392541	HepG2	liver:	n/a	n/a
15	CTCF	chr21:46392427-46392537	A549	lung:	n/a	n/a
16	CTCF	chr21:46392400-46392550	HEK293	kidney:	n/a	n/a
17	CTCF	chr21:46392380-46392530	BE2_C	brain:	n/a	n/a
18	CTCF	chr21:46392360-46392510	A549	lung:	n/a	n/a
19	CTCF	chr21:46392124-46392643	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr21:46392380-46392530	HCT-116	colon:	n/a	n/a
21	CTCF	chr21:46392360-46392510	GM12864	blood:	n/a	n/a
22	CTCF	chr21:46392380-46392530	HepG2	liver:	n/a	n/a
23	CTCF	chr21:46392442-46392534	GM19240	blood:	n/a	n/a
24	CTCF	chr21:46392380-46392530	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr21:46392380-46392530	K562	blood:	n/a	n/a
26	CTCF	chr21:46392400-46392550	GM12871	blood:	n/a	n/a
27	CTCF	chr21:46392294-46392582	K562	blood:	n/a	n/a
28	CTCF	chr21:46392201-46392732	K562	blood:	n/a	n/a
29	CTCF	chr21:46392340-46392490	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr21:46392380-46392530	GM12871	blood:	n/a	n/a
31	CTCF	chr21:46392413-46392530	HepG2	liver:	n/a	n/a
32	CTCF	chr21:46392424-46392573	MCF-7	breast:	n/a	n/a
33	CTCF	chr21:46392420-46392570	GM12874	blood:	n/a	n/a
34	CTCF	chr21:46392400-46392550	GM12873	blood:	n/a	n/a
35	CTCF	chr21:46392459-46392530	Gliobla	brain:	n/a	n/a
36	CTCF	chr21:46392380-46392530	GM12864	blood:	n/a	n/a
37	CTCF	chr21:46392470-46392527	GM13977	blood:	n/a	n/a
38	CTCF	chr21:46392380-46392530	HAc	cerebellar:	n/a	n/a
39	CTCF	chr21:46392440-46392539	MCF-7	breast:	n/a	n/a
40	CTCF	chr21:46392380-46392530	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr21:46392353-46392586	K562	blood:	n/a	n/a
42	CTCF	chr21:46392440-46392590	GM12868	blood:	n/a	n/a
43	CTCF	chr21:46392380-46392530	GM12872	blood:	n/a	n/a
44	CTCF	chr21:46392184-46392614	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr21:46392419-46392542	GM19238	blood:	n/a	n/a
46	CTCF	chr21:46392340-46392490	HMEC	breast:	n/a	n/a
47	CTCF	chr21:46392452-46392548	GM19239	blood:	n/a	n/a
48	CTCF	chr21:46392380-46392530	NB4	blood:	n/a	n/a
49	CTCF	chr21:46392380-46392530	GM12874	blood:	n/a	n/a
50	CTCF	chr21:46392398-46392573	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46392580-46392630	HRCEpiC	kidney:	n/a
2	chr21:46392580-46392630	HCT-116	colon:	n/a
3	chr21:46392580-46392630	HEEpiC	esophagus:	n/a
4	chr21:46392580-46392630	T-47D	breast:	n/a
5	chr21:46392580-46392630	NHBE	bronchial:	n/a
6	chr21:46392580-46392630	SK-N-MC	brain:	n/a
7	chr21:46392580-46392630	SK-N-SH_RA	brain:	n/a
8	chr21:46392580-46392630	SK-N-SH	brain:	n/a
9	chr21:46392580-46392630	MCF10A-Er-Src	breast:	n/a
10	chr21:46392580-46392630	NB4	blood:	n/a
11	chr21:46392580-46392630	Hela-S3	cervix:	n/a
12	chr21:46392580-46392630	GM06990	blood:	n/a
13	chr21:46392580-46392630	H1-hESC	embryonic stem cell:	embryo
14	chr21:46392580-46392630	AoSMC	blood vessel:	n/a
15	chr21:46392580-46392630	SAEC	small airway:	n/a
16	chr21:46392580-46392630	HRPEpiC	eye:	n/a
17	chr21:46392580-46392630	HPAEpiC	pulmonary alveolar:	n/a
18	chr21:46392580-46392630	HCM	heart:	n/a
19	chr21:46392580-46392630	GM12892	blood:	n/a
20	chr21:46392580-46392630	HCF	heart:	n/a
21	chr21:46392580-46392630	AG04449	skin:	fetal
22	chr21:46392580-46392630	HMEC	breast:	n/a
23	chr21:46392580-46392630	ProgFib	skin:	n/a
24	chr21:46392580-46392630	RPTEC	kidney:	n/a
25	chr21:46392580-46392630	A549	lung:	n/a
26	chr21:46392580-46392630	AG04450	lung:	fetal
27	chr21:46392580-46392630	PANC-1	pancreas:	n/a
28	chr21:46392580-46392630	ovcar-3	ovarian:	n/a
29	chr21:46392580-46392630	HRE	kidney:	n/a
30	chr21:46392580-46392630	IMR90	lung:	fetal
31	chr21:46392580-46392630	NH-A	brain:	n/a
32	chr21:46392580-46392630	K562	blood:	n/a
33	chr21:46392580-46392630	AG09319	gingival:	n/a
34	chr21:46392580-46392630	HL-60	blood:	n/a
35	chr21:46392580-46392630	BE2_C	brain:	n/a
36	chr21:46392580-46392630	HEK293	kidney:	embryo
37	chr21:46392580-46392630	GM12878	blood:	n/a
38	chr21:46392580-46392630	BJ	skin:	n/a
39	chr21:46392580-46392630	U87	brain:	n/a
40	chr21:46392580-46392630	PrEC	prostate:	n/a
41	chr21:46392580-46392630	HNPCEpiC	eye:	n/a
42	chr21:46392580-46392630	HepG2	liver:	n/a
43	chr21:46392580-46392630	NHDF-neo	bronchial:	n/a
44	chr21:46392580-46392630	Jurkat	blood:	n/a
45	chr21:46392580-46392630	HIPEpiC	eye:	n/a
46	chr21:46392580-46392630	CMK	blood:	n/a
47	chr21:46392580-46392630	HUVEC	blood vessel:	n/a
48	chr21:46392580-46392630	GM12891	blood:	n/a
49	chr21:46392580-46392630	HCPEpiC	choroid plexus:	n/a
50	chr21:46392580-46392630	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr21:46394559..46397632-chr21:46405352..46407463,3	MCF-7	breast:
2	chr21:46385024..46387145-chr21:46393833..46396444,2	MCF-7	breast:
3	chr21:46391141..46392812-chr21:46492465..46494168,2	MCF-7	breast:
4	chr21:46373591..46376395-chr21:46393601..46395111,2	MCF-7	breast:
5	chr21:46360355..46363434-chr21:46390613..46392494,3	K562	blood:
6	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
7	chr21:46359964..46363434-chr21:46389610..46392494,4	K562	blood:
8	chr21:46369739..46370323-chr21:46392021..46392844,2	MCF-7	breast:
9	chr21:46380415..46381979-chr21:46391161..46392964,2	K562	blood:
10	chr21:46389981..46391498-chr21:46393886..46395996,2	MCF-7	breast:
11	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:

No data

Variant related genes	Relation type
FAM207A	TF binding region
FAM207A	CpG island
ENSG00000235374	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000268856	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575232927	chr21:46392479-46392480	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs543354311	chr21:46392480-46392481	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs73378639	chr21:46392505-46392506	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs529146913	chr21:46392535-46392536	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs541236777	chr21:46392577-46392578	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs559242297	chr21:46392587-46392588	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs73909905	chr21:46392602-46392603	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551495562	chr21:46392606-46392607	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs569706747	chr21:46392612-46392613	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs530500800	chr21:46392613-46392614	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs74791872	chr21:46392628-46392629	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs567972837	chr21:46392635-46392636	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs73909906	chr21:46392654-46392655	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs367999732	chr21:46392660-46392661	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs137855584	chr21:46392676-46392677	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs553543653	chr21:46392699-46392700	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs117423880	chr21:46392701-46392702	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs538795192	chr21:46392726-46392727	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs562859193	chr21:46392770-46392771	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs530160823	chr21:46392830-46392831	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs575271318	chr21:46392861-46392862	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs536268665	chr21:46392863-46392864	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs554631230	chr21:46392865-46392866	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs573888993	chr21:46392873-46392874	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs149625472	chr21:46392875-46392876	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs146126544	chr21:46392876-46392877	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs540921431	chr21:46392895-46392896	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs559543095	chr21:46392912-46392913	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs56020414	chr21:46392915-46392916	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs7276130	chr21:46392916-46392917	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs577900507	chr21:46392946-46392947	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs375637924	chr21:46392947-46392948	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs545157224	chr21:46392950-46392951	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs563348012	chr21:46392951-46392952	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs184013082	chr21:46392964-46392965	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs114501826	chr21:46392996-46392997	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs560684833	chr21:46393002-46393003	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs530619541	chr21:46393017-46393018	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs368223390	chr21:46393054-46393055	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs35113332	chr21:46393059-46393060	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538832248	chr21:46393064-46393065	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs138605768	chr21:46393071-46393072	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs569024805	chr21:46393072-46393073	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs3827260	chr21:46393090-46393091	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs554952024	chr21:46393111-46393112	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs200224326	chr21:46393120-46393121	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs146094101	chr21:46393122-46393123	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs372963455	chr21:46393131-46393132	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs140102661	chr21:46393149-46393150	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs375909925	chr21:46393150-46393151	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 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
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
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Congenital heart defects	20877625	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46380000-46396600	Weak transcription	Brain Substantia Nigra	brain
2	chr21:46380200-46402600	Weak transcription	Aorta	Aorta
3	chr21:46381200-46396400	Weak transcription	Psoas Muscle	Psoas
4	chr21:46382800-46404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:46384200-46399600	Strong transcription	Fetal Intestine Small	intestine
6	chr21:46385000-46393200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:46385000-46401400	Strong transcription	Thymus	Thymus
8	chr21:46385200-46393000	Genic enhancers	Fetal Muscle Leg	muscle
9	chr21:46385400-46393000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr21:46385400-46393800	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr21:46385800-46393000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:46386200-46393200	Genic enhancers	Spleen	Spleen
13	chr21:46386400-46400600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr21:46386800-46400600	Weak transcription	Small Intestine	intestine
15	chr21:46387600-46396000	Strong transcription	Pancreas	Pancrea
16	chr21:46387800-46392600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr21:46387800-46397800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:46387800-46399000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr21:46388400-46393600	Weak transcription	Fetal Brain Female	brain
20	chr21:46388600-46394600	Weak transcription	Liver	Liver
21	chr21:46388600-46396800	Weak transcription	Brain Hippocampus Middle	brain
22	chr21:46388600-46397600	Weak transcription	NHEK	skin
23	chr21:46388600-46398200	Strong transcription	Gastric	stomach
24	chr21:46388600-46398400	Weak transcription	Brain Angular Gyrus	brain
25	chr21:46388600-46399800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:46389400-46393000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
27	chr21:46389400-46393000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr21:46390000-46392600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:46390000-46392600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr21:46390000-46393800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr21:46390000-46398600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr21:46390000-46399400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr21:46390200-46392600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr21:46390200-46392600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr21:46390200-46393200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr21:46390200-46394600	Weak transcription	Colon Smooth Muscle	Colon
37	chr21:46390200-46395000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr21:46390200-46395000	Weak transcription	Colonic Mucosa	Colon
39	chr21:46390200-46399000	Weak transcription	GM12878-XiMat	blood
40	chr21:46390200-46399400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr21:46390200-46400400	Weak transcription	Right Atrium	heart
42	chr21:46390200-46403200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr21:46390200-46406400	Weak transcription	Brain Anterior Caudate	brain
44	chr21:46390400-46392600	Weak transcription	HSMM	muscle
45	chr21:46390400-46393400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr21:46390400-46393400	Weak transcription	Fetal Intestine Large	intestine
47	chr21:46390400-46393600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr21:46390400-46394000	Weak transcription	HSMMtube	muscle
49	chr21:46390400-46394600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr21:46390400-46396000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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