Variant report

Variant	nsv981425
Chromosome Location	chr7:5020769-5030325
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	BATF	chr7:5022375-5022646	GM12878	blood:	n/a	n/a
2	CEBPD	chr7:5022401-5022797	K562	blood:	n/a	n/a
3	CTCF	chr7:5022336-5022441	Spleen_OC	spleen:	n/a	chr7:5022369-5022377
4	ELF1	chr7:5020905-5021331	GM12878	blood:	n/a	chr7:5021136-5021149
5	ELF1	chr7:5020974-5021273	K562	blood:	n/a	chr7:5021136-5021149
6	GATA2	chr7:5022352-5022766	K562	blood:	n/a	n/a
7	IRF4	chr7:5022236-5022650	GM12878	blood:	n/a	n/a
8	MAX	chr7:5020731-5020947	K562	blood:	n/a	chr7:5020867-5020878 chr7:5020864-5020879 chr7:5020869-5020878
9	POLR2A	chr7:5026207-5026533	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:5029663-5029802	ProgFib	skin:	n/a	n/a
11	POLR2A	chr7:5029820-5030006	ProgFib	skin:	n/a	n/a
12	POLR2A	chr7:5027445-5027481	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:5027769-5028094	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:5026924-5027132	K562	blood:	n/a	n/a
15	POLR2A	chr7:5022267-5022717	GM12891	blood:	n/a	n/a
16	POLR2A	chr7:5027471-5027763	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:5023485-5023534	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:5027528-5027545	HepG2	liver:	n/a	n/a
19	POLR2A	chr7:5023435-5023475	HepG2	liver:	n/a	n/a
20	POLR2A	chr7:5022223-5022367	K562	blood:	n/a	n/a
21	POLR2A	chr7:5026470-5026479	HepG2	liver:	n/a	n/a
22	POLR2A	chr7:5022297-5022720	GM12891	blood:	n/a	n/a
23	POLR2A	chr7:5026969-5027147	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:5025061-5025072	K562	blood:	n/a	n/a
25	POLR2A	chr7:5029585-5029625	ProgFib	skin:	n/a	n/a
26	POLR2A	chr7:5022224-5022584	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:5022017-5022026	K562	blood:	n/a	n/a
28	POLR2A	chr7:5026573-5026667	K562	blood:	n/a	n/a
29	POLR2A	chr7:5021554-5021692	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr7:5021805-5022016	K562	blood:	n/a	n/a
31	POLR2A	chr7:5027314-5027371	HepG2	liver:	n/a	n/a
32	POLR2A	chr7:5029250-5029331	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr7:5027567-5027579	HepG2	liver:	n/a	n/a
34	POLR2A	chr7:5022237-5022731	GM12878	blood:	n/a	n/a
35	POLR2A	chr7:5022197-5022680	GM12891	blood:	n/a	n/a
36	POLR2A	chr7:5022471-5022550	K562	blood:	n/a	n/a
37	POLR2A	chr7:5025152-5025290	MCF-7	breast:	n/a	n/a
38	POLR2A	chr7:5029522-5029984	HepG2	liver:	n/a	n/a
39	POLR2A	chr7:5026513-5027052	HepG2	liver:	n/a	n/a
40	POLR2A	chr7:5029631-5029636	ProgFib	skin:	n/a	n/a
41	POLR2A	chr7:5027814-5028057	GM12878	blood:	n/a	n/a
42	POU2F2	chr7:5021646-5021956	GM12878	blood:	n/a	n/a
43	POU2F2	chr7:5021717-5022010	GM12891	blood:	n/a	n/a
44	SP1	chr7:5022346-5022649	GM12878	blood:	n/a	chr7:5022500-5022510
45	SPI1	chr7:5021918-5022875	GM12878	blood:	n/a	chr7:5022431-5022444 chr7:5022432-5022445 chr7:5022434-5022443
46	SPI1	chr7:5022279-5022506	GM12878	blood:	n/a	chr7:5022431-5022444 chr7:5022432-5022445 chr7:5022434-5022443
47	SPI1	chr7:5022166-5022628	GM12891	blood:	n/a	chr7:5022431-5022444 chr7:5022432-5022445 chr7:5022434-5022443
48	SPI1	chr7:5022082-5022673	GM12891	blood:	n/a	chr7:5022431-5022444 chr7:5022432-5022445 chr7:5022434-5022443
49	SPI1	chr7:5022289-5022610	K562	blood:	n/a	chr7:5022431-5022444 chr7:5022432-5022445 chr7:5022434-5022443
50	SPI1	chr7:5022218-5022587	K562	blood:	n/a	chr7:5022431-5022444 chr7:5022432-5022445 chr7:5022434-5022443

No.	Distal block	Cell Line	Cell type
1	chr7:5012537..5014887-chr7:5022005..5024140,2	K562	blood:
2	chr7:5013631..5016563-chr7:5022027..5023765,2	K562	blood:
3	chr7:5018855..5021498-chr7:5040650..5043052,2	K562	blood:

Variant related genes	Relation type
RNF216P1	TF binding region
RBAK-RBAKDN	TF binding region
ENSG00000196204	chromatin interactions

Extended variants
information (count: 520 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117065919	chr7:5020772-5020773	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs376014938	chr7:5020795-5020796	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs575537905	chr7:5020805-5020806	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs186299510	chr7:5020808-5020809	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs555360900	chr7:5020823-5020824	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs146699070	chr7:5020824-5020825	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs541153838	chr7:5020857-5020858	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs367747728	chr7:5020859-5020860	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs552461071	chr7:5020903-5020904	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs191142306	chr7:5020906-5020907	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs371486330	chr7:5020910-5020911	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs74302762	chr7:5020934-5020935	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs573730834	chr7:5020935-5020936	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs112012890	chr7:5020942-5020943	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs150971124	chr7:5020953-5020954	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs149152603	chr7:5020954-5020955	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs567681911	chr7:5020964-5020965	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs567906984	chr7:5020966-5020967	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs528563414	chr7:5020982-5020983	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs536397286	chr7:5020983-5020984	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs548349050	chr7:5020996-5020997	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs571505979	chr7:5021031-5021032	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs544213093	chr7:5021033-5021034	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs566870367	chr7:5021074-5021075	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs538804080	chr7:5021087-5021088	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs9639888	chr7:5021101-5021102	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569419294	chr7:5021125-5021126	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs536978724	chr7:5021131-5021132	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs111397345	chr7:5021149-5021150	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs534702868	chr7:5021183-5021184	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs553056840	chr7:5021210-5021211	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs373764465	chr7:5021222-5021223	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs367692679	chr7:5021223-5021224	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs71004608	chr7:5021242-5021243	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs73330912	chr7:5021247-5021248	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs372259442	chr7:5021251-5021252	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs558888121	chr7:5021259-5021260	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs545190027	chr7:5021295-5021296	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs577644118	chr7:5021317-5021318	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs538528811	chr7:5021327-5021328	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs114582636	chr7:5021333-5021334	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182569226	chr7:5021334-5021335	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542944420	chr7:5021363-5021364	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138859863	chr7:5021375-5021376	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575038671	chr7:5021387-5021388	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541954520	chr7:5021391-5021392	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528535068	chr7:5021460-5021461	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546594753	chr7:5021470-5021471	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565001770	chr7:5021528-5021529	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142059677	chr7:5021553-5021554	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5014600-5023800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:5014600-5024400	Weak transcription	Small Intestine	intestine
3	chr7:5014600-5036200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:5014600-5041000	Weak transcription	Stomach Mucosa	stomach
5	chr7:5014800-5024400	Weak transcription	Colonic Mucosa	Colon
6	chr7:5014800-5026200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:5014800-5040000	Weak transcription	Right Atrium	heart
8	chr7:5014800-5041400	Weak transcription	Fetal Heart	heart
9	chr7:5015200-5024000	Weak transcription	HMEC	breast
10	chr7:5015200-5024800	Weak transcription	Right Ventricle	heart
11	chr7:5015200-5031200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:5015600-5029000	Weak transcription	Psoas Muscle	Psoas
13	chr7:5015800-5020800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:5015800-5021000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:5015800-5021200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:5015800-5021200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr7:5015800-5023200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:5015800-5039200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:5015800-5041800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:5016000-5021000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:5016000-5021000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr7:5016000-5021200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:5016000-5021400	Strong transcription	Hela-S3	cervix
24	chr7:5016000-5021400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr7:5016000-5022000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:5016000-5022400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:5016000-5038200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:5016000-5042000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:5016200-5020800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:5016200-5021000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:5016200-5021000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:5016200-5021000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
33	chr7:5016200-5021000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:5016200-5021000	Strong transcription	Osteobl	bone
35	chr7:5016200-5021400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:5016200-5021400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:5016200-5021600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:5016200-5021600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr7:5016200-5021600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:5016200-5022200	Strong transcription	Fetal Thymus	thymus
41	chr7:5016200-5023000	Strong transcription	Adipose Nuclei	Adipose
42	chr7:5016200-5038400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:5016200-5039000	Strong transcription	Liver	Liver
44	chr7:5016400-5021600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:5016400-5022200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:5016600-5021400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:5016600-5040000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:5016800-5021000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:5017000-5024600	Weak transcription	Aorta	Aorta
50	chr7:5017400-5020800	Weak transcription	Esophagus	oesophagus

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