Variant report

Variant	nsv965960
Chromosome Location	chr21:45487258-45489969
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45476652..45480295-chr21:45485072..45489102,4	MCF-7	breast:
2	chr21:45430698..45433367-chr21:45485628..45489099,4	MCF-7	breast:
3	chr21:45485859..45488146-chr21:45491483..45493752,2	K562	blood:
4	chr21:45485665..45487359-chr21:45490550..45492983,2	K562	blood:
5	chr21:45486005..45488268-chr21:45490821..45492740,2	MCF-7	breast:
6	chr21:45489183..45491870-chr21:45524868..45527531,3	MCF-7	breast:
7	chr21:45429269..45431828-chr21:45486431..45488648,2	MCF-7	breast:
8	chr21:45230492..45230995-chr21:45487103..45487981,2	MCF-7	breast:
9	chr21:45395087..45395762-chr21:45487025..45487618,2	MCF-7	breast:
10	chr21:45483221..45485092-chr21:45485897..45487592,2	MCF-7	breast:
11	chr21:45487715..45490221-chr21:45492098..45495083,2	K562	blood:
12	chr21:45483406..45486402-chr21:45486575..45488365,2	MCF-7	breast:
13	chr21:45358902..45359545-chr21:45487441..45487957,2	MCF-7	breast:
14	chr21:45483073..45485151-chr21:45486951..45488826,2	K562	blood:
15	chr21:45483073..45484734-chr21:45486730..45488826,2	K562	blood:
16	chr21:45473377..45479336-chr21:45481371..45487468,11	K562	blood:
17	chr21:45488029..45489681-chr21:45562055..45564999,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000241945	chromatin interactions
ENSG00000160218	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2838482	chr21:45487294-45487295	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375747336	chr21:45487308-45487309	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190774745	chr21:45487312-45487313	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143722971	chr21:45487328-45487329	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377693544	chr21:45487332-45487333	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs111320702	chr21:45487346-45487347	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181653811	chr21:45487370-45487371	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545987701	chr21:45487378-45487379	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572086750	chr21:45487401-45487402	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146841378	chr21:45487412-45487413	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564559053	chr21:45487442-45487443	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148991183	chr21:45487453-45487454	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559398839	chr21:45487499-45487500	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112181892	chr21:45487519-45487520	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371225447	chr21:45487564-45487565	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540355629	chr21:45487569-45487570	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529266702	chr21:45487645-45487646	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186350727	chr21:45487718-45487719	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs3788100	chr21:45487733-45487734	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569188590	chr21:45487779-45487780	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550946817	chr21:45487846-45487847	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs367637561	chr21:45487861-45487862	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536420827	chr21:45487874-45487875	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370864600	chr21:45487883-45487884	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554829375	chr21:45487908-45487909	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs3788101	chr21:45487925-45487926	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs3788102	chr21:45487949-45487950	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs75052988	chr21:45488001-45488002	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs555991659	chr21:45488032-45488033	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574400490	chr21:45488034-45488035	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535421231	chr21:45488188-45488189	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2838483	chr21:45488190-45488191	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs143509189	chr21:45488200-45488201	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs114796582	chr21:45488219-45488220	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs145904240	chr21:45488261-45488262	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs13050630	chr21:45488279-45488280	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs544042244	chr21:45488284-45488285	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs191066518	chr21:45488304-45488305	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529608639	chr21:45488308-45488309	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547744950	chr21:45488424-45488425	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77540566	chr21:45488440-45488441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533376523	chr21:45488445-45488446	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138826579	chr21:45488456-45488457	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149299054	chr21:45488492-45488493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs9977122	chr21:45488547-45488548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549605781	chr21:45488559-45488560	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568011159	chr21:45488568-45488569	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182534559	chr21:45488571-45488572	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554051540	chr21:45488629-45488630	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571919716	chr21:45488640-45488641	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
3	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
4	chr21:45465800-45487800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:45468400-45502400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr21:45468800-45502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:45469400-45502000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr21:45471800-45495400	Strong transcription	Fetal Muscle Leg	muscle
9	chr21:45471800-45502200	Strong transcription	Fetal Intestine Small	intestine
10	chr21:45472000-45494200	Weak transcription	Psoas Muscle	Psoas
11	chr21:45472000-45502600	Strong transcription	Duodenum Mucosa	Duodenum
12	chr21:45472400-45491200	Strong transcription	Fetal Intestine Large	intestine
13	chr21:45472600-45504400	Strong transcription	Fetal Stomach	stomach
14	chr21:45472800-45503800	Strong transcription	Liver	Liver
15	chr21:45473000-45526600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr21:45475000-45493000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr21:45475000-45502600	Weak transcription	Right Atrium	heart
18	chr21:45475200-45487600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:45475200-45494000	Weak transcription	Fetal Kidney	kidney
20	chr21:45475600-45491200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:45476200-45487600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:45479800-45491200	Weak transcription	Small Intestine	intestine
23	chr21:45481400-45487600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr21:45481400-45498400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:45481600-45487600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:45481600-45489400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr21:45481600-45489600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr21:45481600-45502400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr21:45481600-45510800	Strong transcription	Dnd41	blood
30	chr21:45481600-45523800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:45481800-45487400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr21:45481800-45487400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr21:45481800-45487600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr21:45481800-45487600	Strong transcription	Rectal Smooth Muscle	rectum
35	chr21:45481800-45487800	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr21:45481800-45488000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr21:45481800-45489600	Strong transcription	Colonic Mucosa	Colon
38	chr21:45481800-45489800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr21:45481800-45490400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr21:45481800-45502600	Strong transcription	Left Ventricle	heart
41	chr21:45481800-45503800	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr21:45482000-45503000	Strong transcription	Primary B cells from cord blood	blood
43	chr21:45482200-45487600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr21:45482200-45487600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr21:45482200-45487600	Strong transcription	Fetal Brain Female	brain
46	chr21:45482200-45493000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr21:45482400-45487400	Strong transcription	NHLF	lung
48	chr21:45482400-45487600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr21:45482400-45487600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr21:45483000-45487400	Strong transcription	Pancreas	Pancrea

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