Variant report

Variant	esv1802655
Chromosome Location	chr7:66576034-66634666
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	ARID3A	chr7:66595946-66596068	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:66586943-66586983	K562	blood:	n/a	n/a
3	ARID3A	chr7:66594120-66594496	K562	blood:	n/a	n/a
4	ARID3A	chr7:66631997-66632120	K562	blood:	n/a	n/a
5	ARID3A	chr7:66594175-66594562	HepG2	liver:	n/a	n/a
6	ATF1	chr7:66594100-66594458	K562	blood:	n/a	n/a
7	ATF2	chr7:66594022-66594509	GM12878	blood:	n/a	n/a
8	ATF2	chr7:66594084-66594536	GM12878	blood:	n/a	n/a
9	ATF3	chr7:66594108-66594487	K562	blood:	n/a	n/a
10	BATF	chr7:66594062-66594698	GM12878	blood:	n/a	n/a
11	BATF	chr7:66600094-66600339	GM12878	blood:	n/a	chr7:66600114-66600125
12	BATF	chr7:66593488-66593762	GM12878	blood:	n/a	n/a
13	BATF	chr7:66594161-66594602	GM12878	blood:	n/a	n/a
14	BATF	chr7:66599956-66600326	GM12878	blood:	n/a	chr7:66600114-66600125
15	BCL11A	chr7:66593932-66594470	GM12878	blood:	n/a	n/a
16	BCL11A	chr7:66593952-66594605	GM12878	blood:	n/a	n/a
17	BCL3	chr7:66594039-66594656	A549	lung:	n/a	n/a
18	BCL3	chr7:66594042-66594450	GM12878	blood:	n/a	n/a
19	BCL3	chr7:66594144-66594482	GM12878	blood:	n/a	n/a
20	BCL3	chr7:66594026-66594572	A549	lung:	n/a	n/a
21	BCLAF1	chr7:66594049-66594540	GM12878	blood:	n/a	n/a
22	BCLAF1	chr7:66599905-66600251	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:66593562-66593577	K562	blood:	n/a	n/a
24	BHLHE40	chr7:66594125-66594330	K562	blood:	n/a	n/a
25	BHLHE40	chr7:66594132-66594446	GM12878	blood:	n/a	n/a
26	BHLHE40	chr7:66594178-66594448	HepG2	liver:	n/a	n/a
27	BRCA1	chr7:66585811-66585829	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr7:66594273-66594414	Hela-S3	cervix:	n/a	n/a
29	CBX3	chr7:66593945-66594642	K562	blood:	n/a	n/a
30	CBX3	chr7:66604858-66605231	K562	blood:	n/a	n/a
31	CEBPB	chr7:66595997-66596053	K562	blood:	n/a	n/a
32	CEBPB	chr7:66610611-66610982	K562	blood:	n/a	chr7:66610796-66610807
33	CEBPB	chr7:66612438-66612571	HepG2	liver:	n/a	chr7:66612497-66612508
34	CEBPB	chr7:66594186-66594483	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr7:66626717-66627119	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr7:66612428-66612513	K562	blood:	n/a	chr7:66612497-66612508
37	CEBPB	chr7:66610657-66610871	K562	blood:	n/a	chr7:66610796-66610807
38	CEBPB	chr7:66595968-66596051	IMR90	lung:	n/a	n/a
39	CEBPB	chr7:66595832-66596233	HepG2	liver:	n/a	n/a
40	CEBPB	chr7:66610695-66610893	HepG2	liver:	n/a	chr7:66610796-66610807
41	CEBPB	chr7:66610709-66610885	Hela-S3	cervix:	n/a	chr7:66610796-66610807
42	CEBPB	chr7:66593792-66594777	GM12878	blood:	n/a	n/a
43	CEBPB	chr7:66600945-66601053	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr7:66610673-66610873	H1-hESC	embryonic stem cell:	n/a	chr7:66610796-66610807
45	CEBPB	chr7:66610663-66610935	HepG2	liver:	n/a	chr7:66610796-66610807
46	CEBPD	chr7:66614605-66615013	K562	blood:	n/a	n/a
47	CEBPD	chr7:66593980-66594547	K562	blood:	n/a	n/a
48	CHD2	chr7:66594131-66594497	GM12878	blood:	n/a	n/a
49	CHD2	chr7:66594242-66594487	Hela-S3	cervix:	n/a	n/a
50	CREB1	chr7:66599872-66600308	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66599000..66600532-chr7:66603146..66604759,2	K562	blood:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4650-3p	chr7:66579319-66579339	MIMAT0019714
hsa-miR-4650-5p	chr7:66579352-66579370	MIMAT0019713

Variant related genes	Relation type
ENSG00000265024	TF binding region
MIR4650-1	TF binding region
ENSG00000265024	chromatin interactions

Extended variants
information (count: 2427 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2427 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6973163	chr7:66576034-66576035	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs13242900	chr7:66576063-66576064	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs13243765	chr7:66576072-66576073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs13230562	chr7:66576073-66576074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs556385517	chr7:66576129-66576130	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182163974	chr7:66576204-66576205	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545268727	chr7:66576208-66576209	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs13243892	chr7:66576213-66576214	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs530293372	chr7:66576222-66576223	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs71523754	chr7:66576253-66576254	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs71523753	chr7:66576272-66576273	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs548020105	chr7:66576276-66576277	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs186802755	chr7:66576283-66576284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs13245776	chr7:66576284-66576285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs13245777	chr7:66576286-66576287	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs566372575	chr7:66576358-66576359	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs113551363	chr7:66576359-66576360	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs13245888	chr7:66576372-66576373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs13245889	chr7:66576380-66576381	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs192797012	chr7:66576407-66576408	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs568565891	chr7:66576432-66576433	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs13236722	chr7:66576436-66576437	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs537660424	chr7:66576467-66576468	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs13246021	chr7:66576468-66576469	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs13233789	chr7:66576476-66576477	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62468381	chr7:66576477-66576478	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs13246031	chr7:66576494-66576495	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs184749914	chr7:66576510-66576511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs554021269	chr7:66576513-66576514	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs189961446	chr7:66576520-66576521	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs149636444	chr7:66576531-66576532	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565379501	chr7:66576548-66576549	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs13233879	chr7:66576550-66576551	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560557898	chr7:66576584-66576585	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs192876854	chr7:66576655-66576656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561294119	chr7:66576667-66576668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530292270	chr7:66576734-66576735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529541208	chr7:66576813-66576814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373153572	chr7:66576899-66576900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571560651	chr7:66576900-66576901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560828662	chr7:66576953-66576954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532025101	chr7:66576963-66576964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551716705	chr7:66576979-66576980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568628518	chr7:66576980-66576981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529730516	chr7:66577045-66577046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544818557	chr7:66577088-66577089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538839042	chr7:66577099-66577100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143537230	chr7:66577118-66577119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184396535	chr7:66577156-66577157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115037613	chr7:66577170-66577171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66487000-66576600	Weak transcription	Gastric	stomach
2	chr7:66495200-66597200	Weak transcription	Right Ventricle	heart
3	chr7:66508800-66590400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:66526400-66585600	Weak transcription	Brain Angular Gyrus	brain
5	chr7:66532400-66587600	Weak transcription	Fetal Kidney	kidney
6	chr7:66532600-66582800	Weak transcription	HSMMtube	muscle
7	chr7:66533800-66623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:66535600-66593600	Weak transcription	Hela-S3	cervix
9	chr7:66538400-66593600	Weak transcription	Fetal Thymus	thymus
10	chr7:66538400-66594200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:66538400-66595800	Weak transcription	Brain Substantia Nigra	brain
12	chr7:66540400-66582800	Weak transcription	Placenta	Placenta
13	chr7:66540800-66594000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:66543400-66600000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:66544600-66592600	Weak transcription	HepG2	liver
16	chr7:66545600-66616600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:66547000-66577400	Weak transcription	A549	lung
18	chr7:66547000-66594200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:66547600-66594000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:66547600-66594000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:66547800-66593400	Weak transcription	Pancreas	Pancrea
22	chr7:66547800-66602800	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:66549800-66585000	Weak transcription	Esophagus	oesophagus
24	chr7:66550000-66582800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:66550000-66586200	Weak transcription	Left Ventricle	heart
26	chr7:66550000-66587800	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:66550000-66593400	Weak transcription	Spleen	Spleen
28	chr7:66550000-66624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:66550200-66583600	Weak transcription	Adipose Nuclei	Adipose
30	chr7:66550200-66584000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr7:66550200-66593200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:66554600-66595000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:66555800-66587400	Weak transcription	Primary B cells from cord blood	blood
34	chr7:66560400-66593600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:66560800-66589200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:66561600-66579000	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:66562800-66593600	Weak transcription	NHEK	skin
38	chr7:66563000-66585600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:66564400-66576600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:66564800-66582000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:66564800-66582800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:66564800-66594400	Weak transcription	NH-A	brain
43	chr7:66565200-66589800	Weak transcription	Aorta	Aorta
44	chr7:66566200-66583000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:66566400-66585400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:66566400-66585400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:66566400-66587400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:66566400-66587600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:66566400-66593400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr7:66566400-66605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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