Variant report

Variant	nsv962654
Chromosome Location	chr21:46364578-46365493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:46365391-46365440	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr21:46365030-46365241	K562	blood:	n/a	n/a
3	POLR2A	chr21:46365149-46365299	ProgFib	skin:	n/a	n/a
4	POLR2A	chr21:46364851-46365632	K562	blood:	n/a	n/a
5	POLR2A	chr21:46364934-46365452	HepG2	liver:	n/a	n/a
6	POLR2A	chr21:46364657-46364665	K562	blood:	n/a	n/a
7	POLR2A	chr21:46364451-46364652	K562	blood:	n/a	n/a
8	POLR2A	chr21:46364414-46364803	K562	blood:	n/a	n/a
9	POLR2A	chr21:46364997-46365028	K562	blood:	n/a	n/a
10	POLR2A	chr21:46364239-46364673	HepG2	liver:	n/a	n/a
11	POLR2A	chr21:46365044-46365142	K562	blood:	n/a	n/a
12	POLR2A	chr21:46365270-46365312	GM12878	blood:	n/a	n/a
13	TBL1XR1	chr21:46365381-46365426	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
2	chr21:46220090..46222867-chr21:46363904..46366830,2	MCF-7	breast:
3	chr21:46270971..46273978-chr21:46365251..46368818,3	MCF-7	breast:
4	chr21:46241081..46243824-chr21:46362767..46365475,2	K562	blood:
5	chr21:46223596..46225546-chr21:46364000..46366683,2	MCF-7	breast:
6	chr21:46236408..46237961-chr21:46362765..46365600,2	MCF-7	breast:
7	chr21:46348197..46349743-chr21:46363739..46365973,2	K562	blood:
8	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
9	chr21:46220260..46222802-chr21:46358731..46365262,8	MCF-7	breast:
10	chr21:46364819..46367471-chr21:46472297..46474771,2	K562	blood:
11	chr21:46363498..46366270-chr21:46557131..46558741,2	MCF-7	breast:
12	chr21:46222145..46224721-chr21:46365025..46367550,2	K562	blood:
13	chr21:46235471..46238715-chr21:46364486..46368349,4	K562	blood:

No data

Variant related genes	Relation type
C21orf67	TF binding region
ENSG00000197381	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000235374	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113775595	chr21:46364585-46364586	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs187650667	chr21:46364670-46364671	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs145468542	chr21:46364677-46364678	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs377716328	chr21:46364686-46364687	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs536253730	chr21:46364737-46364738	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs547365665	chr21:46364798-46364799	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs565913865	chr21:46364815-46364816	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs567240681	chr21:46364816-46364817	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs73906958	chr21:46364840-46364841	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552828622	chr21:46364850-46364851	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs73906960	chr21:46364866-46364867	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190880503	chr21:46364881-46364882	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs183018590	chr21:46364902-46364903	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs575256728	chr21:46364903-46364904	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs73906961	chr21:46364949-46364950	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148842624	chr21:46364952-46364953	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs73906962	chr21:46364971-46364972	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs73906963	chr21:46364978-46364979	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs532643398	chr21:46365002-46365003	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs551107734	chr21:46365009-46365010	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs73226635	chr21:46365054-46365055	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs530175859	chr21:46365055-46365056	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs548201009	chr21:46365069-46365070	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs142583240	chr21:46365081-46365082	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs533920372	chr21:46365092-46365093	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs552892300	chr21:46365166-46365167	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs571470155	chr21:46365169-46365170	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs35056606	chr21:46365186-46365187	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113686783	chr21:46365241-46365242	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs575263326	chr21:46365287-46365288	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs368623961	chr21:46365288-46365289	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs542770045	chr21:46365291-46365292	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs554688406	chr21:46365413-46365414	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs551127309	chr21:46365427-46365428	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs569436139	chr21:46365447-46365448	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs570283236	chr21:46365478-46365479	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs572915822	chr21:46365482-46365483	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs2026883	chr21:46365489-46365490	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46360800-46372400	Weak transcription	Aorta	Aorta
2	chr21:46361000-46384200	Weak transcription	Fetal Kidney	kidney
3	chr21:46361400-46367000	Weak transcription	HSMMtube	muscle
4	chr21:46361400-46369600	Weak transcription	NH-A	brain
5	chr21:46361400-46384600	Weak transcription	Small Intestine	intestine
6	chr21:46361600-46367200	Weak transcription	Right Atrium	heart
7	chr21:46361600-46375600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:46361600-46378000	Weak transcription	Stomach Mucosa	stomach
9	chr21:46361600-46378200	Weak transcription	NHDF-Ad	bronchial
10	chr21:46361600-46389200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr21:46361800-46366000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr21:46361800-46368200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:46361800-46368800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:46361800-46369600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:46361800-46369600	Weak transcription	Brain Substantia Nigra	brain
16	chr21:46361800-46372400	Strong transcription	Fetal Brain Female	brain
17	chr21:46362000-46366200	Strong transcription	Fetal Muscle Leg	muscle
18	chr21:46362000-46366800	Weak transcription	A549	lung
19	chr21:46362000-46368400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr21:46362000-46382800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr21:46362200-46365000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
22	chr21:46362200-46365400	Strong transcription	K562	blood
23	chr21:46362200-46366800	Weak transcription	Fetal Brain Male	brain
24	chr21:46362200-46366800	Weak transcription	Fetal Heart	heart
25	chr21:46362200-46367800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr21:46362200-46369600	Strong transcription	Fetal Stomach	stomach
27	chr21:46362400-46366200	Strong transcription	Lung	lung
28	chr21:46362400-46366400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:46362400-46366600	Weak transcription	Psoas Muscle	Psoas
30	chr21:46362400-46366800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:46362400-46367600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:46362400-46368600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:46362400-46383200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr21:46362600-46365400	Strong transcription	Primary hematopoietic stem cells	blood
35	chr21:46362600-46365400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:46362600-46365600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:46362600-46366000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr21:46362600-46366600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr21:46362600-46368000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr21:46362600-46369800	Strong transcription	Thymus	Thymus
41	chr21:46362800-46365000	Strong transcription	Placenta	Placenta
42	chr21:46362800-46365800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr21:46362800-46367800	Strong transcription	HepG2	liver
44	chr21:46363000-46365800	Strong transcription	Colonic Mucosa	Colon
45	chr21:46363000-46366200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr21:46363000-46366400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr21:46363000-46367600	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr21:46363000-46367800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr21:46363000-46369000	Strong transcription	NHEK	skin
50	chr21:46363000-46369600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links