Variant report

Variant	esv4213
Chromosome Location	chr21:45207021-45207320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr21:45206201-45207351	GM12878	blood:	n/a	n/a
2	BCL3	chr21:45206784-45207412	GM12878	blood:	n/a	n/a
3	CBX3	chr21:45206508-45207439	K562	blood:	n/a	n/a
4	CBX3	chr21:45206320-45207372	K562	blood:	n/a	n/a
5	ELF1	chr21:45206670-45207345	GM12878	blood:	n/a	n/a
6	GATA1	chr21:45206358-45207366	K562	blood:	n/a	n/a
7	KAP1	chr21:45206250-45207341	HEK293	kidney:	n/a	n/a
8	KAP1	chr21:45207051-45207192	U2OS	brain:	n/a	n/a
9	MAX	chr21:45206992-45207110	HepG2	liver:	n/a	n/a
10	MAX	chr21:45206209-45207361	HepG2	liver:	n/a	n/a
11	MYC	chr21:45206541-45207302	MCF-7	breast:	n/a	n/a
12	MYC	chr21:45207258-45207260	MCF-7	breast:	n/a	n/a
13	MYC	chr21:45206955-45207257	MCF-7	breast:	n/a	n/a
14	MYC	chr21:45206783-45207094	GM12878	blood:	n/a	n/a
15	MYC	chr21:45207099-45207127	MCF-7	breast:	n/a	n/a
16	MYC	chr21:45206519-45207291	MCF-7	breast:	n/a	n/a
17	NFATC1	chr21:45206680-45207104	GM12878	blood:	n/a	n/a
18	NFATC1	chr21:45206211-45207267	GM12878	blood:	n/a	n/a
19	NR2C2	chr21:45206279-45207296	GM12878	blood:	n/a	n/a
20	PBX3	chr21:45206900-45207374	GM12878	blood:	n/a	n/a
21	POLR2A	chr21:45206511-45207158	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr21:45206403-45207306	MCF-7	breast:	n/a	n/a
23	POLR2A	chr21:45206459-45207291	MCF-7	breast:	n/a	n/a
24	POLR2A	chr21:45206591-45207220	K562	blood:	n/a	n/a
25	POLR2A	chr21:45207273-45207293	HepG2	liver:	n/a	n/a
26	POLR2A	chr21:45207298-45207311	HepG2	liver:	n/a	n/a
27	POLR2A	chr21:45206282-45207328	A549	lung:	n/a	n/a
28	POLR2A	chr21:45206828-45207188	HepG2	liver:	n/a	n/a
29	POLR2A	chr21:45207097-45207263	A549	lung:	n/a	n/a
30	POU2F2	chr21:45206410-45207449	GM12891	blood:	n/a	n/a
31	RCOR1	chr21:45206529-45207324	K562	blood:	n/a	n/a
32	RCOR1	chr21:45206773-45207081	GM12878	blood:	n/a	n/a
33	RCOR1	chr21:45206427-45207324	K562	blood:	n/a	n/a
34	RCOR1	chr21:45206588-45207317	HepG2	liver:	n/a	n/a
35	STAT5A	chr21:45206917-45207218	GM12878	blood:	n/a	n/a
36	SUZ12	chr21:45206336-45207303	H1-hESC	embryonic stem cell:	n/a	n/a
37	TCF12	chr21:45206228-45207370	HepG2	liver:	n/a	chr21:45206237-45206245
38	TCF3	chr21:45207084-45207234	GM12878	blood:	n/a	n/a
39	TCF3	chr21:45206224-45207426	GM12878	blood:	n/a	n/a
40	TEAD4	chr21:45206735-45207266	K562	blood:	n/a	n/a
41	WRNIP1	chr21:45206181-45207422	GM12878	blood:	n/a	n/a
42	ZKSCAN1	chr21:45206117-45207674	Hela-S3	cervix:	n/a	n/a
43	ZNF263	chr21:45206218-45207250	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45195028..45197771-chr21:45204736..45207262,2	MCF-7	breast:
2	chr21:45205883..45207499-chr21:45284527..45286198,2	K562	blood:
3	chr21:45201612..45205256-chr21:45206995..45210818,5	MCF-7	breast:
4	chr21:45138000..45143848-chr21:45206375..45212489,9	MCF-7	breast:
5	chr21:44912384..44914729-chr21:45206399..45208292,2	MCF-7	breast:
6	chr21:45094660..45096892-chr21:45205328..45207677,2	K562	blood:
7	chr21:45136894..45141532-chr21:45205840..45211872,8	MCF-7	breast:
8	chr21:45188049..45190841-chr21:45206908..45209310,2	MCF-7	breast:
9	chr21:45130981..45133882-chr21:45206562..45209340,2	K562	blood:
10	chr21:45138604..45140519-chr21:45206523..45208517,2	K562	blood:
11	chr21:45076259..45080839-chr21:45207005..45211007,4	MCF-7	breast:
12	chr21:45205839..45207709-chr21:45212746..45214269,2	MCF-7	breast:

No data

Variant related genes	Relation type
RRP1	TF binding region
ENSG00000160216	chromatin interactions
ENSG00000234030	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000160209	chromatin interactions
ENSG00000160207	chromatin interactions
ENSG00000160214	chromatin interactions
ENSG00000160213	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114873908	chr21:45207049-45207050	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs368411285	chr21:45207055-45207056	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs386819078	chr21:45207066-45207067	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs570159810	chr21:45207069-45207070	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs537482550	chr21:45207078-45207079	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs59782293	chr21:45207088-45207089	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs111914021	chr21:45207105-45207106	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs375971652	chr21:45207128-45207129	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs370031722	chr21:45207132-45207133	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs373508123	chr21:45207133-45207134	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs369268007	chr21:45207156-45207157	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs373451987	chr21:45207159-45207160	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs59406851	chr21:45207187-45207188	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs535029883	chr21:45207191-45207192	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs374686139	chr21:45207209-45207210	Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs553597018	chr21:45207210-45207211	Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs369629344	chr21:45207212-45207213	Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs76353568	chr21:45207217-45207218	Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs115694924	chr21:45207241-45207242	Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs557479844	chr21:45207253-45207254	Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs532910161	chr21:45207269-45207270	Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs575726542	chr21:45207288-45207289	Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs551380457	chr21:45207291-45207292	Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45196800-45208800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:45196800-45209000	Weak transcription	Aorta	Aorta
3	chr21:45199000-45208600	Weak transcription	Stomach Mucosa	stomach
4	chr21:45199000-45208800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:45199200-45208400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:45199200-45208600	Weak transcription	Primary T cells from cord blood	blood
7	chr21:45199400-45208600	Weak transcription	Primary B cells from cord blood	blood
8	chr21:45202600-45208600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr21:45203200-45208400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:45203200-45208800	Weak transcription	HMEC	breast
11	chr21:45203400-45208400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr21:45203400-45208400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:45203400-45208400	Weak transcription	GM12878-XiMat	blood
14	chr21:45203600-45208400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr21:45203600-45208400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr21:45203600-45208600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr21:45203600-45208600	Weak transcription	A549	lung
18	chr21:45203800-45208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:45203800-45208600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr21:45203800-45208600	Weak transcription	Adipose Nuclei	Adipose
21	chr21:45203800-45208600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr21:45204600-45208600	Weak transcription	HepG2	liver
23	chr21:45204600-45208600	Weak transcription	NHEK	skin
24	chr21:45204600-45209000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:45204800-45208400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:45204800-45208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr21:45205000-45208400	Weak transcription	Dnd41	blood
28	chr21:45206400-45207200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:45206400-45207200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:45206400-45207400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:45206400-45207400	ZNF genes & repeats	Esophagus	oesophagus
32	chr21:45206400-45207400	Enhancers	Gastric	stomach
33	chr21:45206400-45207400	ZNF genes & repeats	Hela-S3	cervix
34	chr21:45206600-45207200	Enhancers	Lung	lung
35	chr21:45206600-45207200	Strong transcription	Spleen	Spleen
36	chr21:45206600-45207400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr21:45206800-45207200	Active TSS	Colonic Mucosa	Colon
38	chr21:45206800-45208400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr21:45207000-45207200	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:45207000-45207200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr21:45207000-45207400	Enhancers	Pancreas	Pancrea
42	chr21:45207000-45208800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr21:45207000-45208800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr21:45207200-45207400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:45207200-45207400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:45207200-45207400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr21:45207200-45208600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr21:45207200-45208800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:45207200-45208800	Weak transcription	Colonic Mucosa	Colon
50	chr21:45207200-45209000	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links