Variant report

Variant	nsv587711
Chromosome Location	chr21:45159891-45160087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr21:45159769-45160260	A549	lung:	n/a	chr21:45159789-45159802
2	JUND	chr21:45159628-45161057	A549	lung:	n/a	chr21:45159685-45159693
3	MAX	chr21:45159587-45161125	A549	lung:	n/a	chr21:45160229-45160238
4	POLR2A	chr21:45159794-45160559	GM12892	blood:	n/a	n/a
5	POLR2A	chr21:45159026-45160653	GM12878	blood:	n/a	n/a
6	POLR2A	chr21:45159820-45160339	HepG2	liver:	n/a	n/a
7	POLR2A	chr21:45159572-45160265	A549	lung:	n/a	n/a
8	POLR2A	chr21:45159920-45160935	HepG2	liver:	n/a	n/a
9	POLR2A	chr21:45159528-45160307	A549	lung:	n/a	n/a
10	POLR2A	chr21:45159327-45161028	GM12892	blood:	n/a	n/a
11	POLR2A	chr21:45159883-45159898	HepG2	liver:	n/a	n/a
12	POLR2A	chr21:45159971-45160273	A549	lung:	n/a	n/a
13	POLR2A	chr21:45159791-45160287	K562	blood:	n/a	n/a
14	POLR2A	chr21:45159864-45160164	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr21:45159742-45160313	GM12878	blood:	n/a	n/a
16	POLR2A	chr21:45159885-45159904	K562	blood:	n/a	n/a
17	POLR2A	chr21:45159773-45160266	GM12878	blood:	n/a	n/a
18	POLR2A	chr21:45159797-45160133	A549	lung:	n/a	n/a
19	POLR2A	chr21:45160079-45160327	K562	blood:	n/a	n/a
20	POLR2A	chr21:45159792-45160451	HepG2	liver:	n/a	n/a
21	POLR2A	chr21:45159866-45160862	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr21:45159724-45160299	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr21:45159149-45161101	A549	lung:	n/a	n/a
24	POLR2A	chr21:45159481-45160498	HL-60	blood:	n/a	n/a
25	SIN3A	chr21:45159934-45160083	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZBTB7A	chr21:45160009-45161098	ECC-1	luminal epithelium:	n/a	n/a
27	ZNF143	chr21:45160034-45160270	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45158615..45161441-chr21:45207897..45210708,2	K562	blood:
2	chr21:45152139..45163298-chr21:45164540..45174522,16	K562	blood:
3	chr21:45159502..45161246-chr21:45194764..45196763,2	MCF-7	breast:
4	chr21:45159250..45162021-chr21:45208113..45211544,3	MCF-7	breast:
5	chr21:45156014..45158647-chr21:45159074..45160757,2	K562	blood:

No data

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000160214	chromatin interactions
ENSG00000160213	chromatin interactions
ENSG00000160209	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139189213	chr21:45159895-45159896	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs544229530	chr21:45159924-45159925	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs546682123	chr21:45159930-45159931	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs562785010	chr21:45159931-45159932	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs557034213	chr21:45159933-45159934	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs112642322	chr21:45159934-45159935	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs145322383	chr21:45159961-45159962	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs147664892	chr21:45159978-45159979	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs142346478	chr21:45159989-45159990	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs57983053	chr21:45159998-45159999	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182721942	chr21:45160003-45160004	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs572031943	chr21:45160012-45160013	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs188209905	chr21:45160024-45160025	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs116960023	chr21:45160040-45160041	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs377421864	chr21:45160056-45160057	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs535719826	chr21:45160062-45160063	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs146467610	chr21:45160072-45160073	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs145772340	chr21:45160077-45160078	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs533693885	chr21:45160079-45160080	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs7277641	chr21:45160087-45160088	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	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
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
Neuroblastoma	20406844	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45146000-45163600	Weak transcription	Dnd41	blood
2	chr21:45149000-45194400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr21:45149400-45175400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr21:45149600-45163600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:45149600-45163600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr21:45149600-45163800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr21:45149600-45164200	Weak transcription	Primary B cells from cord blood	blood
8	chr21:45149800-45160200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:45149800-45164200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr21:45149800-45164400	Weak transcription	Fetal Kidney	kidney
11	chr21:45149800-45175200	Weak transcription	HUVEC	blood vessel
12	chr21:45149800-45188200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr21:45150000-45161600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:45150000-45163600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr21:45150000-45173200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr21:45152200-45160600	Genic enhancers	Fetal Intestine Large	intestine
17	chr21:45152200-45160600	Genic enhancers	Fetal Intestine Small	intestine
18	chr21:45152200-45183400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr21:45152400-45163800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr21:45152400-45173200	Weak transcription	Psoas Muscle	Psoas
21	chr21:45153600-45163800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr21:45154000-45167000	Weak transcription	Small Intestine	intestine
23	chr21:45154200-45163400	Weak transcription	Colon Smooth Muscle	Colon
24	chr21:45154200-45163800	Weak transcription	NHDF-Ad	bronchial
25	chr21:45154400-45160400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr21:45154400-45160600	Strong transcription	Fetal Stomach	stomach
27	chr21:45154400-45184200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr21:45154600-45164200	Weak transcription	Brain Substantia Nigra	brain
29	chr21:45154800-45164200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr21:45154800-45174600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr21:45155000-45160600	Strong transcription	NHEK	skin
32	chr21:45155000-45161400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr21:45155000-45161400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr21:45155000-45163800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr21:45155000-45164400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr21:45155200-45160000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr21:45155200-45160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr21:45155200-45160200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr21:45155200-45160400	Weak transcription	Left Ventricle	heart
40	chr21:45155200-45161600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr21:45155200-45163600	Weak transcription	Fetal Lung	lung
42	chr21:45155200-45169200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr21:45155400-45161600	Weak transcription	Osteobl	bone
44	chr21:45155400-45163400	Weak transcription	HSMMtube	muscle
45	chr21:45155400-45163600	Weak transcription	Stomach Mucosa	stomach
46	chr21:45155400-45164200	Weak transcription	HSMM	muscle
47	chr21:45155400-45164200	Weak transcription	NH-A	brain
48	chr21:45155800-45161600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr21:45156000-45162000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr21:45156000-45163600	Weak transcription	Fetal Thymus	thymus

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