Variant report

Variant	esv3520843
Chromosome Location	chr21:46283718-46283995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr21:46283549-46284003	HepG2	liver:	n/a	n/a
2	POLR2A	chr21:46283844-46284094	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr21:46283906-46283972	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr21:46283691-46284122	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr21:46283857-46283865	HepG2	liver:	n/a	n/a
6	POLR2A	chr21:46283741-46283881	K562	blood:	n/a	n/a
7	POLR2A	chr21:46283707-46283719	K562	blood:	n/a	n/a
8	POLR2A	chr21:46283341-46284238	HepG2	liver:	n/a	n/a
9	POLR2A	chr21:46283682-46284047	GM12878	blood:	n/a	n/a
10	POLR2A	chr21:46282610-46283848	HepG2	liver:	n/a	n/a
11	POLR2A	chr21:46283637-46283874	HUVEC	blood vessel:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46237330..46240146-chr21:46282395..46285243,3	K562	blood:
2	chr21:46283208..46285602-chr21:46427466..46429012,2	MCF-7	breast:
3	chr21:45930623..45933218-chr21:46282665..46285532,2	MCF-7	breast:
4	chr21:46220733..46222651-chr21:46282710..46285466,2	K562	blood:
5	chr21:46263030..46264697-chr21:46282813..46284320,2	MCF-7	breast:
6	chr21:46282547..46285422-chr21:46309419..46311568,2	K562	blood:
7	chr21:46274905..46276457-chr21:46283894..46285475,2	K562	blood:
8	chr21:46236216..46237955-chr21:46282098..46284361,2	MCF-7	breast:
9	chr21:46278491..46281253-chr21:46282131..46284724,2	K562	blood:
10	chr21:46280368..46282945-chr21:46283456..46285604,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM207A-7	chr21:46282775-46284126	l_2234_chr21:46281729-46284126_testes
2	lnc-FAM207A-7	chr21:46282799-46284149	NONHSAT082888

No data

Variant related genes	Relation type
PTTG1IP	TF binding region
ENSG00000184900	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000236519	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528231915	chr21:46283733-46283734	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
2	rs183447685	chr21:46283738-46283739	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
3	rs66467973	chr21:46283757-46283758	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs17004712	chr21:46283775-46283776	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150067155	chr21:46283776-46283777	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs568837239	chr21:46283781-46283782	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs145441614	chr21:46283795-46283796	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs187730712	chr21:46283800-46283801	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs567066335	chr21:46283844-46283845	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs235281	chr21:46283869-46283870	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559084013	chr21:46283884-46283885	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
12	rs534970952	chr21:46283886-46283887	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
13	rs577298740	chr21:46283898-46283899	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
14	rs547522838	chr21:46283924-46283925	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
15	rs544262612	chr21:46283949-46283950	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
16	rs143486646	chr21:46283951-46283952	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
17	rs574445638	chr21:46283960-46283961	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
18	rs192720793	chr21:46283968-46283969	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
19	rs182755661	chr21:46283993-46283994	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46267400-46285200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr21:46267400-46286600	Strong transcription	Fetal Stomach	stomach
3	chr21:46267600-46287000	Strong transcription	Brain Germinal Matrix	brain
4	chr21:46268200-46285800	Strong transcription	Fetal Muscle Leg	muscle
5	chr21:46268600-46285200	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr21:46268600-46285200	Strong transcription	Osteobl	bone
7	chr21:46268600-46285400	Strong transcription	Thymus	Thymus
8	chr21:46268600-46285400	Strong transcription	HUVEC	blood vessel
9	chr21:46268600-46285800	Strong transcription	Liver	Liver
10	chr21:46268600-46286000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr21:46268600-46286600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr21:46268800-46285200	Strong transcription	Dnd41	blood
13	chr21:46268800-46285200	Strong transcription	NHLF	lung
14	chr21:46268800-46285400	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr21:46268800-46286600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:46268800-46286600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:46268800-46286600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr21:46269400-46285800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr21:46271400-46286800	Weak transcription	Psoas Muscle	Psoas
20	chr21:46272400-46283800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr21:46272600-46285200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr21:46273000-46285000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr21:46273000-46286600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr21:46273400-46285600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr21:46274000-46285000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr21:46274200-46284800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr21:46274200-46285200	Strong transcription	Fetal Intestine Small	intestine
28	chr21:46274400-46284600	Strong transcription	Fetal Intestine Large	intestine
29	chr21:46274400-46285400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr21:46274800-46285000	Weak transcription	Small Intestine	intestine
31	chr21:46275200-46284800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr21:46275200-46285000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr21:46275400-46284800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr21:46275400-46285000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr21:46275600-46284600	Strong transcription	Primary T cells from cord blood	blood
36	chr21:46275600-46290600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr21:46275800-46284800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr21:46275800-46285200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr21:46276000-46284800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr21:46276200-46283800	Weak transcription	NHDF-Ad	bronchial
41	chr21:46276400-46285200	Strong transcription	Fetal Thymus	thymus
42	chr21:46276400-46286000	Strong transcription	K562	blood
43	chr21:46277000-46284800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr21:46277800-46286600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr21:46278200-46285600	Strong transcription	Aorta	Aorta
46	chr21:46278200-46286400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr21:46278400-46289600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr21:46278600-46284800	Strong transcription	HSMM	muscle
49	chr21:46279000-46284800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr21:46279400-46286600	Weak transcription	Fetal Brain Male	brain

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