Variant report

Variant	nsv516004
Chromosome Location	chr21:45988426-45989211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr21:45989043-45989370	K562	blood:	n/a	n/a
2	BHLHE40	chr21:45988860-45989389	K562	blood:	n/a	chr21:45988914-45988930
3	CBX3	chr21:45989101-45989409	K562	blood:	n/a	n/a
4	CBX3	chr21:45989069-45989379	K562	blood:	n/a	n/a
5	CREB1	chr21:45989022-45989466	K562	blood:	n/a	n/a
6	CTCF	chr21:45988725-45988832	MCF-7	breast:	n/a	n/a
7	CTCF	chr21:45988758-45988778	MCF-7	breast:	n/a	n/a
8	E2F6	chr21:45988776-45989340	K562	blood:	n/a	n/a
9	E2F6	chr21:45988390-45988519	K562	blood:	n/a	n/a
10	E2F6	chr21:45988802-45989066	K562	blood:	n/a	n/a
11	E2F6	chr21:45989068-45989270	K562	blood:	n/a	n/a
12	EP300	chr21:45989208-45989329	K562	blood:	n/a	n/a
13	GABPA	chr21:45988798-45989418	K562	blood:	n/a	chr21:45988904-45988913
14	GABPA	chr21:45989003-45989451	K562	blood:	n/a	n/a
15	HMGN3	chr21:45989193-45989382	K562	blood:	n/a	n/a
16	MAX	chr21:45988722-45989381	K562	blood:	n/a	chr21:45988997-45989006 chr21:45988916-45988923 chr21:45988998-45989005 chr21:45988801-45988810 chr21:45988799-45988808 chr21:45988915-45988924 chr21:45988802-45988809
17	MAX	chr21:45988792-45989371	K562	blood:	n/a	chr21:45988997-45989006 chr21:45988916-45988923 chr21:45988998-45989005 chr21:45988801-45988810 chr21:45988799-45988808 chr21:45988915-45988924 chr21:45988802-45988809
18	MAX	chr21:45988799-45989040	K562	blood:	n/a	chr21:45988997-45989006 chr21:45988916-45988923 chr21:45988998-45989005 chr21:45988801-45988810 chr21:45988799-45988808 chr21:45988915-45988924 chr21:45988802-45988809
19	MAX	chr21:45989059-45989305	K562	blood:	n/a	n/a
20	MAX	chr21:45988802-45989060	NB4	blood:	n/a	chr21:45988997-45989006 chr21:45988916-45988923 chr21:45988998-45989005 chr21:45988915-45988924 chr21:45988802-45988809
21	MYC	chr21:45988902-45989377	K562	blood:	n/a	chr21:45988997-45989006 chr21:45988916-45988923 chr21:45988998-45989005 chr21:45988915-45988924
22	MYC	chr21:45989095-45989304	K562	blood:	n/a	n/a
23	POLR2A	chr21:45988990-45988996	MCF-7	breast:	n/a	n/a
24	POLR2A	chr21:45988978-45988988	MCF-7	breast:	n/a	n/a
25	POLR2A	chr21:45989027-45989029	MCF-7	breast:	n/a	n/a
26	POLR2A	chr21:45989000-45989026	MCF-7	breast:	n/a	n/a
27	RCOR1	chr21:45989115-45989265	K562	blood:	n/a	n/a
28	USF1	chr21:45989008-45989331	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45987563..45989403-chr21:45990992..45992920,2	MCF-7	breast:
2	chr21:45971316..45974046-chr21:45988116..45989981,2	MCF-7	breast:
3	chr21:45979063..45980801-chr21:45987415..45990235,2	MCF-7	breast:
4	chr21:45987378..45989214-chr21:45998869..46000795,2	MCF-7	breast:

Variant related genes	Relation type
KRTAP10-4	TF binding region
ENSG00000205445	chromatin interactions
ENSG00000241123	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12627324	chr21:45988426-45988427	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs587594164	chr21:45988525-45988526	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs138833721	chr21:45988536-45988537	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs587663846	chr21:45988552-45988553	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs461436	chr21:45988559-45988560	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184239397	chr21:45988580-45988581	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs141362755	chr21:45988611-45988612	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs587685561	chr21:45988649-45988650	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs9982654	chr21:45988669-45988670	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs587624927	chr21:45988691-45988692	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs456780	chr21:45988710-45988711	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142037012	chr21:45988735-45988736	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs145719403	chr21:45988778-45988779	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs375292859	chr21:45988820-45988821	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs369889759	chr21:45988856-45988857	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs9982855	chr21:45988863-45988864	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs587733848	chr21:45988888-45988889	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs9983521	chr21:45988906-45988907	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs587630976	chr21:45988907-45988908	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs587714805	chr21:45988908-45988909	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs138401446	chr21:45988919-45988920	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs201882096	chr21:45988994-45988995	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs149604892	chr21:45988997-45988998	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs587710166	chr21:45989002-45989003	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs587607841	chr21:45989008-45989009	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs17004672	chr21:45989026-45989027	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs465079	chr21:45989035-45989036	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs587632171	chr21:45989081-45989082	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs587657620	chr21:45989095-45989096	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs457647	chr21:45989115-45989116	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs587616789	chr21:45989120-45989121	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs587721656	chr21:45989127-45989128	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs12627518	chr21:45989128-45989129	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs587645977	chr21:45989146-45989147	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs117381890	chr21:45989149-45989150	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs457692	chr21:45989158-45989159	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs587636345	chr21:45989159-45989160	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs587714024	chr21:45989170-45989171	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs144347950	chr21:45989183-45989184	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs457697	chr21:45989191-45989192	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373126212	chr21:45989197-45989198	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs587708366	chr21:45989207-45989208	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs457698	chr21:45989211-45989212	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

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
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
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45978400-45994400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:45987000-45989600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:45987800-45989400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:45988200-45989400	Enhancers	Fetal Muscle Leg	muscle
5	chr21:45988200-45989800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr21:45988400-45988800	Weak transcription	Gastric	stomach
7	chr21:45988800-45989000	ZNF genes & repeats	Gastric	stomach
8	chr21:45989000-45994200	Weak transcription	Gastric	stomach

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