Variant report

Variant	nsv913846
Chromosome Location	chr21:44792003-44824854
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:96)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:96 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:44818474..44821317-chr21:44840540..44842574,2	K562	blood:
2	chr21:44818494..44821466-chr21:44822978..44824850,3	MCF-7	breast:
3	chr21:44794897..44795700-chr21:44817028..44817994,2	Hela-S3	cervix:
4	chr21:44762861..44766108-chr21:44815534..44819790,6	MCF-7	breast:
5	chr21:44801294..44803832-chr21:44814842..44816860,2	MCF-7	breast:
6	chr21:44777331..44779083-chr21:44791828..44793778,2	MCF-7	breast:
7	chr21:44817009..44818002-chr5:77655965..77656610,2	Hela-S3	cervix:
8	chr21:44773657..44775372-chr21:44796504..44799463,2	MCF-7	breast:
9	chr21:44806720..44808933-chr21:44820146..44822747,2	K562	blood:
10	chr21:44792038..44794136-chr21:44797022..44799785,2	K562	blood:
11	chr21:44810439..44813413-chr21:44816127..44819027,3	K562	blood:
12	chr11:72532707..72533497-chr21:44816438..44817174,2	Hela-S3	cervix:
13	chr21:44803166..44805208-chr21:44860912..44863687,2	MCF-7	breast:
14	chr21:44817435..44819767-chr21:44897212..44899468,2	MCF-7	breast:
15	chr21:44797612..44800275-chr21:44807773..44810718,2	K562	blood:
16	chr21:44751981..44753821-chr21:44820405..44821935,2	MCF-7	breast:
17	chr21:44820781..44823244-chr21:44845092..44848273,4	K562	blood:
18	chr21:44810007..44811602-chr21:44823731..44826616,2	K562	blood:
19	chr10:119134733..119135615-chr21:44816008..44816946,2	Hela-S3	cervix:
20	chr21:44806841..44809351-chr21:44845698..44847405,2	K562	blood:
21	chr21:44802031..44804189-chr21:44807658..44809517,2	MCF-7	breast:
22	chr21:44759752..44762306-chr21:44816293..44818010,2	MCF-7	breast:
23	chr21:44792038..44794136-chr21:44797022..44799785,2	K562	blood:
24	chr21:44815638..44818048-chr21:44819779..44823056,3	MCF-7	breast:
25	chr21:44762784..44765751-chr21:44820003..44823083,3	MCF-7	breast:
26	chr21:44752731..44754373-chr21:44815382..44817443,2	MCF-7	breast:
27	chr21:44801294..44803832-chr21:44814842..44816860,2	MCF-7	breast:
28	chr21:44787122..44790843-chr21:44793154..44798480,6	K562	blood:
29	chr21:44818343..44820016-chr21:44828957..44830875,2	MCF-7	breast:
30	chr21:44802031..44804189-chr21:44807658..44809517,2	MCF-7	breast:
31	chr21:44788189..44792112-chr21:44793177..44796400,4	MCF-7	breast:
32	chr21:44774210..44776288-chr21:44801380..44803823,2	MCF-7	breast:
33	chr21:44792472..44794929-chr21:44800038..44801919,2	K562	blood:
34	chr21:44818100..44821352-chr21:44920857..44923649,3	MCF-7	breast:
35	chr21:44780389..44782566-chr21:44805407..44807925,2	MCF-7	breast:
36	chr21:34914228..34916117-chr21:44815409..44816929,2	K562	blood:
37	chr21:44816498..44817222-chr8:103667168..103667816,2	Hela-S3	cervix:
38	chr21:44798976..44802444-chr21:44845775..44848745,3	K562	blood:
39	chr21:44823951..44826613-chr21:44829582..44832057,3	K562	blood:
40	chr21:34914228..34916503-chr21:44815409..44816909,2	K562	blood:
41	chr21:44806720..44808933-chr21:44820146..44822747,2	K562	blood:
42	chr21:44787865..44790312-chr21:44808214..44809942,2	MCF-7	breast:
43	chr21:44816513..44819832-chr21:44823325..44826638,3	MCF-7	breast:
44	chr21:44792472..44794842-chr21:44800038..44802202,2	K562	blood:
45	chr21:44794538..44796207-chr21:44800905..44803072,2	MCF-7	breast:
46	chr21:44801690..44804651-chr21:44845741..44847984,2	MCF-7	breast:
47	chr21:44786597..44791011-chr21:44796414..44799261,3	MCF-7	breast:
48	chr21:44818494..44821466-chr21:44822978..44824850,3	MCF-7	breast:
49	chr21:44794538..44796207-chr21:44800905..44803072,2	MCF-7	breast:
50	chr21:44821621..44823244-chr21:44846507..44848273,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRYAA-3	chr21:44821458-44821739	XLOC_013962
2	lnc-SIK1-1	chr21:44810094-44810470	XLOC_014104
3	lnc-CRYAA-3	chr21:44818608-44818645	XLOC_013962
4	lnc-SIK1-1	chr21:44810725-44810769	XLOC_014104

No data

Variant related genes	Relation type
ENSG00000237989	chromatin interactions
ENSG00000237864	chromatin interactions
ENSG00000165650	chromatin interactions
ENSG00000182796	chromatin interactions
ENSG00000160207	chromatin interactions
ENSG00000160202	chromatin interactions
ENSG00000142178	chromatin interactions
ENSG00000085365	chromatin interactions
ENSG00000185186	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000168010	chromatin interactions
ENSG00000046651	chromatin interactions
ENSG00000159140	chromatin interactions
ENSG00000159131	chromatin interactions
ENSG00000135392	chromatin interactions
ENSG00000196459	chromatin interactions
ENSG00000245556	chromatin interactions
LIF	miRNA target sites

Extended variants
information (count: 1727 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1727 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs592109	chr21:44792003-44792004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563732657	chr21:44792028-44792029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531110455	chr21:44792029-44792030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76959762	chr21:44792064-44792065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370719129	chr21:44792069-44792070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372720009	chr21:44792089-44792090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551901088	chr21:44792094-44792095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187621337	chr21:44792106-44792107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566206842	chr21:44792120-44792121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193088058	chr21:44792122-44792123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117001852	chr21:44792123-44792124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527777489	chr21:44792140-44792141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149681862	chr21:44792215-44792216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113379444	chr21:44792217-44792218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537931041	chr21:44792250-44792251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556033210	chr21:44792276-44792277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76712556	chr21:44792314-44792315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541497309	chr21:44792382-44792383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374949640	chr21:44792470-44792471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571984048	chr21:44792486-44792487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7277010	chr21:44792537-44792538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545698659	chr21:44792573-44792574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144497729	chr21:44792574-44792575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184246927	chr21:44792577-44792578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187446731	chr21:44792636-44792637	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192738707	chr21:44792659-44792660	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183860092	chr21:44792661-44792662	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139250491	chr21:44792666-44792667	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73906508	chr21:44792676-44792677	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533626404	chr21:44792677-44792678	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552144014	chr21:44792678-44792679	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs146497226	chr21:44792680-44792681	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554808947	chr21:44792702-44792703	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs9981089	chr21:44792706-44792707	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs59528784	chr21:44792708-44792709	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs9983108	chr21:44792713-44792714	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188635880	chr21:44792715-44792716	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs140446164	chr21:44792723-44792724	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191800625	chr21:44792727-44792728	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372987769	chr21:44792749-44792750	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568030660	chr21:44792753-44792754	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535561490	chr21:44792755-44792756	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150414296	chr21:44792762-44792763	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368449428	chr21:44792770-44792771	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs478075	chr21:44792798-44792799	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs79091505	chr21:44792802-44792803	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs80007824	chr21:44792803-44792804	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs76257757	chr21:44792804-44792805	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs545686600	chr21:44792809-44792810	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557655495	chr21:44792826-44792827	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44788400-44795800	Weak transcription	Spleen	Spleen
2	chr21:44788600-44794000	Enhancers	Esophagus	oesophagus
3	chr21:44788800-44794200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:44788800-44795400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr21:44789000-44794200	Enhancers	HMEC	breast
6	chr21:44790000-44792600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:44790200-44792600	Enhancers	Hela-S3	cervix
8	chr21:44790400-44794800	Enhancers	Brain Germinal Matrix	brain
9	chr21:44790400-44802600	Weak transcription	Pancreas	Pancrea
10	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
11	chr21:44790800-44802400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr21:44791000-44792200	Weak transcription	Fetal Stomach	stomach
13	chr21:44791000-44792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:44791000-44792800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:44791000-44792800	Weak transcription	Fetal Lung	lung
16	chr21:44791000-44793400	Weak transcription	Brain Substantia Nigra	brain
17	chr21:44791200-44792600	Weak transcription	NHEK	skin
18	chr21:44791200-44793200	Weak transcription	Fetal Brain Male	brain
19	chr21:44791400-44792800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr21:44791400-44792800	Weak transcription	Fetal Muscle Leg	muscle
21	chr21:44791600-44802200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:44791600-44802600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:44791800-44793200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:44791800-44799800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr21:44792000-44792800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:44792000-44796200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr21:44792400-44793800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:44792600-44793400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr21:44792600-44793600	Flanking Active TSS	Hela-S3	cervix
30	chr21:44792600-44794000	Enhancers	NHEK	skin
31	chr21:44792600-44795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr21:44792800-44793400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr21:44792800-44793600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr21:44792800-44793600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:44792800-44793800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:44792800-44794200	Enhancers	Fetal Lung	lung
37	chr21:44792800-44795000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr21:44792800-44796000	Enhancers	Fetal Muscle Leg	muscle
39	chr21:44793200-44793600	Enhancers	HSMM	muscle
40	chr21:44793200-44793800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr21:44793200-44793800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr21:44793400-44793600	Enhancers	Fetal Brain Male	brain
43	chr21:44793400-44793600	Enhancers	Right Ventricle	heart
44	chr21:44793400-44793600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr21:44793400-44794600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr21:44793600-44793800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:44793600-44795800	Enhancers	Hela-S3	cervix
48	chr21:44793600-44796800	Weak transcription	Right Ventricle	heart
49	chr21:44793800-44794000	Bivalent Enhancer	HepG2	liver
50	chr21:44793800-44796000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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