Variant report

Variant	nsv3505
Chromosome Location	chr21:37739377-37748071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:37747944-37748027	K562	blood:	n/a	n/a
2	BATF	chr21:37743172-37743433	GM12878	blood:	n/a	chr21:37743291-37743302
3	CEBPB	chr21:37746767-37746803	HepG2	liver:	n/a	n/a
4	CEBPB	chr21:37746531-37746617	K562	blood:	n/a	n/a
5	CEBPB	chr21:37743783-37743865	HepG2	liver:	n/a	n/a
6	CREB1	chr21:37741393-37741886	GM12878	blood:	n/a	n/a
7	EP300	chr21:37744822-37745078	K562	blood:	n/a	chr21:37744974-37744988
8	FOXA2	chr21:37742843-37743176	A549	lung:	n/a	n/a
9	GATA3	chr21:37747379-37747583	T-47D	breast:	n/a	n/a
10	GATA3	chr21:37740622-37740818	SH-SY5Y	brain:	n/a	n/a
11	MAFK	chr21:37742554-37742750	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAFK	chr21:37744916-37744919	K562	blood:	n/a	n/a
13	NFYB	chr21:37747401-37747741	GM12878	blood:	n/a	n/a
14	PBX3	chr21:37742895-37742989	GM12878	blood:	n/a	n/a
15	POLR2A	chr21:37742664-37742680	HepG2	liver:	n/a	n/a
16	POLR2A	chr21:37742088-37742462	K562	blood:	n/a	n/a
17	POLR2A	chr21:37739557-37739620	K562	blood:	n/a	n/a
18	POLR2A	chr21:37746787-37749135	K562	blood:	n/a	n/a
19	POLR2A	chr21:37741756-37742085	K562	blood:	n/a	n/a
20	POLR2A	chr21:37747049-37747105	MCF-7	breast:	n/a	n/a
21	POLR2A	chr21:37746355-37746759	K562	blood:	n/a	n/a
22	POLR2A	chr21:37741892-37742150	K562	blood:	n/a	n/a
23	POLR2A	chr21:37739846-37739965	K562	blood:	n/a	n/a
24	POLR2A	chr21:37747140-37747154	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr21:37741519-37742366	K562	blood:	n/a	n/a
26	POLR2A	chr21:37742256-37742649	HepG2	liver:	n/a	n/a
27	POLR2A	chr21:37740385-37740391	K562	blood:	n/a	n/a
28	POLR2A	chr21:37741473-37741489	MCF-7	breast:	n/a	n/a
29	POLR2A	chr21:37739040-37740850	K562	blood:	n/a	n/a
30	POLR2A	chr21:37741389-37742368	K562	blood:	n/a	n/a
31	POLR2A	chr21:37742834-37742942	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr21:37743592-37743853	K562	blood:	n/a	n/a
33	POLR2A	chr21:37740820-37741383	K562	blood:	n/a	n/a
34	POLR2A	chr21:37744611-37745188	K562	blood:	n/a	n/a
35	POLR2A	chr21:37747032-37747038	MCF-7	breast:	n/a	n/a
36	POLR2A	chr21:37745882-37746566	K562	blood:	n/a	n/a
37	POLR2A	chr21:37746966-37747262	K562	blood:	n/a	n/a
38	POLR2A	chr21:37742688-37742977	HepG2	liver:	n/a	n/a
39	POLR2A	chr21:37742175-37742382	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr21:37747358-37747574	HepG2	liver:	n/a	n/a
41	POLR2A	chr21:37744594-37744869	HepG2	liver:	n/a	n/a
42	POLR2A	chr21:37743189-37743874	K562	blood:	n/a	n/a
43	POLR2A	chr21:37739492-37739802	K562	blood:	n/a	n/a
44	POLR2A	chr21:37746488-37746587	HepG2	liver:	n/a	n/a
45	POLR2A	chr21:37741449-37741648	HepG2	liver:	n/a	n/a
46	POLR2A	chr21:37742677-37742737	GM12878	blood:	n/a	n/a
47	POLR2A	chr21:37744212-37744301	K562	blood:	n/a	n/a
48	POLR2A	chr21:37743411-37743911	HepG2	liver:	n/a	n/a
49	POLR2A	chr21:37743125-37744125	K562	blood:	n/a	n/a
50	POLR2A	chr21:37744345-37745399	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:37741298..37746012-chr21:37746640..37750181,4	K562	blood:
2	chr21:37731593..37733487-chr21:37739163..37741433,2	K562	blood:
3	chr21:37726224..37728730-chr21:37747390..37750092,2	K562	blood:
4	chr21:37746140..37748038-chr21:37748228..37751110,2	K562	blood:
5	chr21:37743915..37746303-chr21:37756175..37757969,2	K562	blood:
6	chr21:37728293..37730555-chr21:37737850..37740406,2	K562	blood:
7	chr21:37742393..37744603-chr21:37753857..37756092,2	K562	blood:
8	chr21:37743915..37747544-chr21:37756136..37757969,3	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	MORC3	hsa-miR-32-5p	chr21:37747929-37747935
2	MORC3	hsa-miR-32-5p	chr21:37747915-37747936

Variant related genes	Relation type
MORC3	TF binding region
ENSG00000159259	chromatin interactions
ENSG00000159256	chromatin interactions
ENSG00000228107	chromatin interactions

Extended variants
information (count: 328 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555638007	chr21:37739436-37739437	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs144311933	chr21:37739459-37739460	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148742098	chr21:37739481-37739482	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs531528807	chr21:37739489-37739490	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs577955550	chr21:37739502-37739503	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs142185778	chr21:37739562-37739563	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs187018396	chr21:37739566-37739567	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547667275	chr21:37739599-37739600	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs528166095	chr21:37739666-37739667	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146720064	chr21:37739673-37739674	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561686518	chr21:37739674-37739675	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs117433490	chr21:37739715-37739716	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs35618430	chr21:37739716-37739717	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs568951635	chr21:37739792-37739793	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs536207845	chr21:37739798-37739799	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144387271	chr21:37739825-37739826	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs368724380	chr21:37739826-37739827	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs191047690	chr21:37739909-37739910	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs34248383	chr21:37739960-37739961	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs73905809	chr21:37739972-37739973	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547005988	chr21:37739998-37739999	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs139430565	chr21:37740053-37740054	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs182423701	chr21:37740082-37740083	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs187301371	chr21:37740086-37740087	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs575712783	chr21:37740117-37740118	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs191701538	chr21:37740174-37740175	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs550705008	chr21:37740180-37740181	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577916507	chr21:37740191-37740192	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs540567031	chr21:37740214-37740215	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs77043107	chr21:37740255-37740256	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566932745	chr21:37740256-37740257	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs144129883	chr21:37740300-37740301	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs534146926	chr21:37740305-37740306	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541534164	chr21:37740307-37740308	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs561836900	chr21:37740323-37740324	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs367857994	chr21:37740375-37740376	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs530555376	chr21:37740414-37740415	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559131231	chr21:37740506-37740507	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs146425482	chr21:37740531-37740532	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564313261	chr21:37740574-37740575	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs577507985	chr21:37740589-37740590	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183197064	chr21:37740624-37740625	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs79134847	chr21:37740658-37740659	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs566842478	chr21:37740741-37740742	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs73383714	chr21:37740748-37740749	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191983963	chr21:37740834-37740835	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs573314993	chr21:37740842-37740843	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs569314881	chr21:37740916-37740917	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs140655353	chr21:37740945-37740946	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs35841511	chr21:37740967-37740968	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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 myeloid leukemia	20729466	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
Ovarian cancer	22174824	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	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
Acute myeloid leukemia	17237825	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Emphysema	19352772	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Down syndrome	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Down syndrome	21154855	CNVD
Pancreatic cancer	17952125	CNVD
Down syndrome	23512985	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37699400-37757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:37701200-37750600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr21:37701600-37751400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:37704800-37751400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr21:37705400-37748400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr21:37705400-37750600	Strong transcription	Duodenum Mucosa	Duodenum
7	chr21:37705600-37750400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr21:37705600-37750600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr21:37705600-37751400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr21:37705800-37751200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr21:37705800-37751200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr21:37706000-37750600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr21:37706000-37750600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr21:37706000-37750600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:37706000-37750800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:37706200-37750400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr21:37706200-37750800	Strong transcription	Liver	Liver
18	chr21:37708600-37751400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr21:37709000-37747400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr21:37709200-37750600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr21:37709200-37750600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr21:37709600-37748200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr21:37711400-37757600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr21:37713000-37750800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr21:37721000-37747600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:37722800-37757400	Weak transcription	Right Atrium	heart
27	chr21:37722800-37757600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr21:37723400-37750600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:37723600-37750400	Strong transcription	Osteobl	bone
30	chr21:37724800-37751400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:37725600-37747600	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr21:37726200-37748600	Strong transcription	Fetal Intestine Large	intestine
33	chr21:37726200-37749800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr21:37726200-37750600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr21:37726200-37750600	Strong transcription	Adipose Nuclei	Adipose
36	chr21:37726200-37750600	Strong transcription	Fetal Thymus	thymus
37	chr21:37726400-37751200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr21:37726800-37750600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr21:37726800-37750600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr21:37727000-37747800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr21:37727000-37750600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr21:37727000-37751200	Strong transcription	Placenta	Placenta
43	chr21:37727400-37750600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr21:37727600-37750400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr21:37727600-37751400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr21:37728200-37750600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr21:37728400-37750800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr21:37728800-37744000	Strong transcription	HepG2	liver
49	chr21:37729000-37748200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr21:37729000-37750400	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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