Variant report

Variant	nsv828887
Chromosome Location	chr21:44822727-44838406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:44829643..44831600-chr21:44834056..44835815,3	MCF-7	breast:
2	chr21:44762784..44765751-chr21:44820003..44823083,3	MCF-7	breast:
3	chr21:44810007..44811602-chr21:44823731..44826616,2	K562	blood:
4	chr21:44393742..44396489-chr21:44837195..44839008,3	MCF-7	breast:
5	chr21:44762797..44764586-chr21:44838192..44840388,2	MCF-7	breast:
6	chr21:44814731..44816926-chr21:44832531..44834607,2	MCF-7	breast:
7	chr21:44823951..44826613-chr21:44829582..44832057,3	K562	blood:
8	chr21:44759532..44761977-chr21:44827634..44830066,2	MCF-7	breast:
9	chr10:102820540..102821482-chr21:44836170..44837079,2	Hela-S3	cervix:
10	chr21:44824614..44826616-chr21:44827888..44829786,2	MCF-7	breast:
11	chr21:44760953..44765969-chr21:44827582..44835473,8	MCF-7	breast:
12	chr21:44815638..44818048-chr21:44819779..44823056,3	MCF-7	breast:
13	chr21:44817995..44818827-chr21:44829450..44830022,2	MCF-7	breast:
14	chr21:44823951..44826613-chr21:44829582..44832057,3	K562	blood:
15	chr21:44834200..44834810-chr5:65017885..65018593,2	Hela-S3	cervix:
16	chr21:44823778..44826577-chr21:44921300..44923032,2	MCF-7	breast:
17	chr11:66845412..66846012-chr21:44835009..44836001,2	Hela-S3	cervix:
18	chr21:44806720..44808933-chr21:44820146..44822747,2	K562	blood:
19	chr21:44833113..44833867-chr6:12008935..12009469,2	Hela-S3	cervix:
20	chr21:44820781..44823244-chr21:44845092..44848273,4	K562	blood:
21	chr21:44810332..44812959-chr21:44829398..44831869,3	MCF-7	breast:
22	chr13:99738994..99739700-chr21:44835814..44836575,2	Hela-S3	cervix:
23	chr21:44837787..44838640-chrX:48900336..48901307,2	Hela-S3	cervix:
24	chr21:44826966..44831025-chr21:44834316..44837805,5	K562	blood:
25	chr21:44829643..44831600-chr21:44834056..44835815,3	MCF-7	breast:
26	chr21:44826742..44829631-chr21:44845519..44848403,3	K562	blood:
27	chr21:44818343..44820016-chr21:44828957..44830875,2	MCF-7	breast:
28	chr21:44833647..44834202-chr22:43011056..43011777,2	Hela-S3	cervix:
29	chr21:44824614..44826616-chr21:44827888..44829786,2	MCF-7	breast:
30	chr21:44762766..44765210-chr21:44829593..44833216,5	MCF-7	breast:
31	chr21:44595506..44597559-chr21:44837131..44839693,2	MCF-7	breast:
32	chr21:44825113..44826687-chr21:44829541..44831627,2	K562	blood:
33	chr21:44835183..44837638-chr21:45079405..45081633,2	K562	blood:
34	chr21:44818567..44821286-chr21:44833722..44837322,3	MCF-7	breast:
35	chr21:44821621..44823244-chr21:44846507..44848273,2	K562	blood:
36	chr21:44825113..44826687-chr21:44829541..44831627,2	K562	blood:
37	chr21:44815903..44818451-chr21:44831220..44833651,3	MCF-7	breast:
38	chr21:44815060..44818053-chr21:44827899..44829488,2	MCF-7	breast:
39	chr21:44826611..44829527-chr21:44923973..44926200,2	MCF-7	breast:
40	chr21:44826966..44831025-chr21:44834316..44837805,5	K562	blood:
41	chr14:90849203..90849962-chr21:44837971..44838757,2	Hela-S3	cervix:
42	chr11:82997053..82997597-chr21:44836794..44837527,2	Hela-S3	cervix:
43	chr10:69865425..69865958-chr21:44838150..44838948,2	Hela-S3	cervix:
44	chr21:44829431..44829955-chr21:44849916..44850639,2	MCF-7	breast:
45	chr21:44829086..44831055-chr21:44919731..44921283,2	MCF-7	breast:
46	chr21:44816513..44819832-chr21:44823325..44826638,3	MCF-7	breast:
47	chr21:44818715..44822400-chr21:44825874..44830059,6	MCF-7	breast:
48	chr10:59675342..59676099-chr21:44834961..44835685,2	Hela-S3	cervix:
49	chr21:44817777..44820163-chr21:44837731..44840134,2	MCF-7	breast:
50	chr21:44818494..44821466-chr21:44822978..44824850,3	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	SIK1	hsa-miR-32-5p	chr21:44834567-44834561
2	SIK1	hsa-miR-32-5p	chr21:44835766-44835791
3	SIK1	hsa-miR-32-5p	chr21:44835772-44835765

Variant related genes	Relation type
ENSG00000095951	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000273162	chromatin interactions
ENSG00000197860	chromatin interactions
ENSG00000123213	chromatin interactions
ENSG00000255234	chromatin interactions
ENSG00000237864	chromatin interactions
ENSG00000138347	chromatin interactions
ENSG00000160199	chromatin interactions
ENSG00000137500	chromatin interactions
ENSG00000068323	chromatin interactions
ENSG00000142178	chromatin interactions

Extended variants
information (count: 905 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:905 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1004918	chr21:44822727-44822728	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538847628	chr21:44822728-44822729	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556999376	chr21:44822737-44822738	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186339321	chr21:44822747-44822748	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146736462	chr21:44822794-44822795	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571649756	chr21:44822870-44822871	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs117122500	chr21:44822871-44822872	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557096407	chr21:44822883-44822884	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573473307	chr21:44822884-44822885	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540533192	chr21:44822888-44822889	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565577954	chr21:44822925-44822926	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189610230	chr21:44822944-44822945	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73223011	chr21:44822969-44822970	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182138719	chr21:44822985-44822986	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542562819	chr21:44823004-44823005	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188013847	chr21:44823005-44823006	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548988527	chr21:44823047-44823048	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191147625	chr21:44823073-44823074	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534614417	chr21:44823074-44823075	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546550497	chr21:44823090-44823091	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571531663	chr21:44823095-44823096	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538432818	chr21:44823104-44823105	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556766280	chr21:44823174-44823175	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs9978988	chr21:44823179-44823180	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536388535	chr21:44823209-44823210	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554656093	chr21:44823226-44823227	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113712411	chr21:44823228-44823229	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183454111	chr21:44823229-44823230	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144161100	chr21:44823276-44823277	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs371730226	chr21:44823278-44823279	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs151023789	chr21:44823300-44823301	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs188193543	chr21:44823336-44823337	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs35208373	chr21:44823338-44823339	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs563113305	chr21:44823343-44823344	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs75320693	chr21:44823345-44823346	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs374601404	chr21:44823350-44823351	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs79712034	chr21:44823358-44823359	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs150203192	chr21:44823392-44823393	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs371256669	chr21:44823393-44823394	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs544161018	chr21:44823398-44823399	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs562354964	chr21:44823418-44823419	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs546608475	chr21:44823419-44823420	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs375529886	chr21:44823430-44823431	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs192196555	chr21:44823433-44823434	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs532321712	chr21:44823434-44823435	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs373393581	chr21:44823456-44823457	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs672163	chr21:44823479-44823480	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536044381	chr21:44823508-44823509	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs554740985	chr21:44823509-44823510	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs4818726	chr21:44823513-44823514	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:758 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
2	chr21:44808600-44823000	Weak transcription	Brain Germinal Matrix	brain
3	chr21:44816200-44822800	Enhancers	Spleen	Spleen
4	chr21:44816400-44823200	Enhancers	Fetal Muscle Leg	muscle
5	chr21:44816800-44823000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:44817000-44823200	Enhancers	Primary hematopoietic stem cells	blood
7	chr21:44817600-44823600	Enhancers	HepG2	liver
8	chr21:44817600-44829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:44817800-44823200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr21:44818000-44823200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:44818000-44823600	Weak transcription	Fetal Intestine Large	intestine
12	chr21:44819200-44823200	Weak transcription	Gastric	stomach
13	chr21:44819400-44824200	Enhancers	Primary B cells from cord blood	blood
14	chr21:44820000-44822800	Enhancers	Fetal Thymus	thymus
15	chr21:44820000-44823200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:44820000-44823600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr21:44820200-44823000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:44820200-44824200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr21:44820400-44823000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr21:44820400-44823200	Weak transcription	Pancreas	Pancrea
21	chr21:44820400-44824800	Enhancers	Primary B cells from peripheral blood	blood
22	chr21:44821200-44823000	Weak transcription	Liver	Liver
23	chr21:44821200-44829000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:44821200-44829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:44821600-44823800	Weak transcription	HSMM	muscle
26	chr21:44821600-44835400	Weak transcription	Fetal Brain Female	brain
27	chr21:44821800-44822800	Enhancers	Ovary	ovary
28	chr21:44821800-44823400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr21:44821800-44823800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr21:44821800-44823800	Weak transcription	HSMMtube	muscle
31	chr21:44821800-44824000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr21:44821800-44831800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr21:44822000-44823400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr21:44822000-44824600	Bivalent Enhancer	Placenta	Placenta
35	chr21:44822000-44830000	Weak transcription	A549	lung
36	chr21:44822200-44822800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr21:44822200-44822800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr21:44822200-44823600	Weak transcription	Fetal Intestine Small	intestine
39	chr21:44822200-44823800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr21:44822200-44828600	Weak transcription	GM12878-XiMat	blood
41	chr21:44822200-44829200	Weak transcription	Thymus	Thymus
42	chr21:44822400-44822800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:44822400-44822800	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr21:44822400-44823800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr21:44822400-44824000	Enhancers	Fetal Muscle Trunk	muscle
46	chr21:44822400-44829000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr21:44822600-44822800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr21:44822600-44823000	Weak transcription	Esophagus	oesophagus
49	chr21:44822600-44824600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr21:44822600-44825800	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

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