Variant report

Variant	esv3506715
Chromosome Location	chr7:65588967-65592965
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	chr7:65590412-65591463	HepG2	liver:	n/a	n/a
2	ATF1	chr7:65591132-65591202	K562	blood:	n/a	n/a
3	CEBPB	chr7:65590077-65590364	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr7:65591009-65591242	IMR90	lung:	n/a	n/a
5	CEBPB	chr7:65591107-65591439	HepG2	liver:	n/a	n/a
6	CREB1	chr7:65591116-65591528	HepG2	liver:	n/a	n/a
7	CREB1	chr7:65591108-65591494	HepG2	liver:	n/a	n/a
8	CTCF	chr7:65592222-65592296	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr7:65592580-65592730	BE2_C	brain:	n/a	n/a
10	EP300	chr7:65591335-65591337	HepG2	liver:	n/a	n/a
11	EP300	chr7:65589624-65591467	SK-N-SH_RA	brain:	n/a	n/a
12	EP300	chr7:65589055-65593016	SK-N-SH	brain:	n/a	n/a
13	EP300	chr7:65590995-65591417	HepG2	liver:	n/a	n/a
14	EP300	chr7:65589901-65591506	SK-N-SH_RA	brain:	n/a	n/a
15	FOXA1	chr7:65590392-65590645	T-47D	breast:	n/a	chr7:65590518-65590533
16	FOXA1	chr7:65590979-65591417	HepG2	liver:	n/a	n/a
17	FOXA1	chr7:65590251-65590793	HepG2	liver:	n/a	chr7:65590518-65590533
18	FOXA1	chr7:65590264-65590732	HepG2	liver:	n/a	chr7:65590518-65590533
19	FOXA1	chr7:65591032-65591403	HepG2	liver:	n/a	n/a
20	FOXA1	chr7:65590974-65591393	HepG2	liver:	n/a	n/a
21	FOXA2	chr7:65590411-65590617	HepG2	liver:	n/a	n/a
22	FOXA2	chr7:65591116-65591330	HepG2	liver:	n/a	n/a
23	GATA2	chr7:65589604-65589778	SH-SY5Y	brain:	n/a	chr7:65589669-65589680
24	GATA2	chr7:65589995-65591421	SH-SY5Y	brain:	n/a	chr7:65590897-65590910
25	GATA3	chr7:65590226-65590903	MCF-7	breast:	n/a	n/a
26	GATA3	chr7:65590051-65590723	MCF-7	breast:	n/a	n/a
27	GATA3	chr7:65590051-65590962	SK-N-SH	brain:	n/a	chr7:65590897-65590910
28	GATA3	chr7:65592436-65592556	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr7:65590040-65590963	SK-N-SH	brain:	n/a	chr7:65590897-65590910
30	GATA3	chr7:65589751-65591451	SH-SY5Y	brain:	n/a	chr7:65590897-65590910
31	GATA3	chr7:65591677-65592081	SH-SY5Y	brain:	n/a	n/a
32	JUN	chr7:65591127-65591394	HepG2	liver:	n/a	chr7:65591167-65591180
33	JUND	chr7:65591056-65591402	HepG2	liver:	n/a	n/a
34	JUND	chr7:65591066-65591387	HepG2	liver:	n/a	n/a
35	JUND	chr7:65591151-65591173	K562	blood:	n/a	n/a
36	MAFF	chr7:65592448-65592475	K562	blood:	n/a	n/a
37	MAFK	chr7:65591153-65591254	HepG2	liver:	n/a	chr7:65591162-65591173 chr7:65591161-65591177 chr7:65591161-65591176 chr7:65591160-65591174 chr7:65591161-65591172 chr7:65591161-65591172
38	MAFK	chr7:65591077-65591329	HepG2	liver:	n/a	chr7:65591162-65591173 chr7:65591161-65591177 chr7:65591161-65591176 chr7:65591160-65591174 chr7:65591161-65591172 chr7:65591161-65591172
39	MXI1	chr7:65591086-65591393	HepG2	liver:	n/a	n/a
40	MYC	chr7:65591095-65591101	K562	blood:	n/a	n/a
41	MYC	chr7:65592259-65592268	MCF-7	breast:	n/a	n/a
42	NR2F2	chr7:65591099-65591536	HepG2	liver:	n/a	n/a
43	NR2F2	chr7:65591160-65591523	HepG2	liver:	n/a	n/a
44	PBX3	chr7:65590058-65590927	SK-N-SH	brain:	n/a	n/a
45	PBX3	chr7:65590097-65590565	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr7:65592157-65592300	MCF-7	breast:	n/a	n/a
47	POLR2A	chr7:65592293-65592315	GM12878	blood:	n/a	n/a
48	POLR2A	chr7:65590578-65591359	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr7:65592866-65593022	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:65592142-65592154	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:65578700..65580373-chr7:65590797..65592694,2	MCF-7	breast:
2	chr7:65540851..65542511-chr7:65587706..65590251,2	MCF-7	breast:
3	chr7:65590686..65593391-chr7:66020104..66022935,2	K562	blood:
4	chr7:65578872..65580434-chr7:65588749..65590693,2	K562	blood:
5	chr7:65578668..65580540-chr7:65591809..65593353,2	K562	blood:
6	chr7:65578290..65580689-chr7:65586930..65590249,4	K562	blood:
7	chr7:65586822..65589395-chr7:65593306..65595408,2	MCF-7	breast:

Variant related genes	Relation type
CRCP	TF binding region
ENSG00000126522	chromatin interactions
ENSG00000241258	chromatin interactions
ENSG00000177418	chromatin interactions
ENSG00000232491	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10272021	chr7:65588989-65588990	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs57502731	chr7:65589061-65589062	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs367681901	chr7:65589069-65589070	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs552741719	chr7:65589096-65589097	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs572786331	chr7:65589119-65589120	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs186325495	chr7:65589120-65589121	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs558800742	chr7:65589197-65589198	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs190772870	chr7:65589216-65589217	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs558898646	chr7:65589233-65589234	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs572380312	chr7:65589281-65589282	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs561056418	chr7:65589291-65589292	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs574791644	chr7:65589301-65589302	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs540717203	chr7:65589302-65589303	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs79594105	chr7:65589320-65589321	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs532516889	chr7:65589322-65589323	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs541104067	chr7:65589346-65589347	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs181737674	chr7:65589355-65589356	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs376941056	chr7:65589369-65589370	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs551410673	chr7:65589386-65589387	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs565143115	chr7:65589391-65589392	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs556842086	chr7:65589481-65589482	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs530736408	chr7:65589482-65589483	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs550750158	chr7:65589492-65589493	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs143019767	chr7:65589499-65589500	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs536006295	chr7:65589501-65589502	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs186525430	chr7:65589525-65589526	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs191380459	chr7:65589564-65589565	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs117134902	chr7:65589598-65589599	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs148231235	chr7:65589614-65589615	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs542422278	chr7:65589636-65589637	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs200923276	chr7:65589705-65589706	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs372146529	chr7:65589706-65589707	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs376797524	chr7:65589707-65589708	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs369639382	chr7:65589708-65589709	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs113799206	chr7:65589715-65589716	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs182802712	chr7:65589750-65589751	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs113851947	chr7:65589756-65589757	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs554789042	chr7:65589774-65589775	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs372707895	chr7:65589795-65589796	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs186660669	chr7:65589797-65589798	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs534696129	chr7:65589808-65589809	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs146365751	chr7:65589858-65589859	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs189597437	chr7:65589862-65589863	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs183286058	chr7:65589888-65589889	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs13242721	chr7:65589939-65589940	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs143080521	chr7:65589943-65589944	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs544511767	chr7:65589952-65589953	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs527319332	chr7:65589953-65589954	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs547489736	chr7:65589997-65589998	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs150686045	chr7:65590073-65590074	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65580600-65591000	Weak transcription	Ovary	ovary
2	chr7:65580600-65600600	Weak transcription	Aorta	Aorta
3	chr7:65580800-65606800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:65581000-65589600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:65581000-65595600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:65581000-65595600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:65581000-65595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:65581000-65597000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:65581000-65617200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:65581200-65590200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:65581200-65590600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:65581200-65596000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:65581400-65589600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:65581400-65590400	Weak transcription	Osteobl	bone
15	chr7:65581400-65595400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:65581400-65595800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:65581400-65596400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:65581600-65589400	Weak transcription	HSMMtube	muscle
19	chr7:65581600-65604800	Weak transcription	Colonic Mucosa	Colon
20	chr7:65581800-65589400	Weak transcription	HSMM	muscle
21	chr7:65581800-65589600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:65581800-65590200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:65581800-65595200	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:65581800-65595600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:65581800-65595800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:65582000-65595200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:65582000-65595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:65582400-65589600	Weak transcription	NHDF-Ad	bronchial
29	chr7:65582400-65608200	Weak transcription	Fetal Brain Male	brain
30	chr7:65582600-65595000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr7:65582600-65596400	Weak transcription	NH-A	brain
32	chr7:65583000-65589600	Weak transcription	Small Intestine	intestine
33	chr7:65583000-65594400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:65583000-65596000	Weak transcription	Thymus	Thymus
35	chr7:65583200-65592400	Weak transcription	Right Ventricle	heart
36	chr7:65583400-65592200	Weak transcription	Lung	lung
37	chr7:65583600-65593600	Weak transcription	Primary B cells from cord blood	blood
38	chr7:65583800-65589600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr7:65584400-65589600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:65584400-65589800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:65584400-65590800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:65584400-65594400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:65584400-65596000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:65584600-65589000	Weak transcription	Placenta	Placenta
45	chr7:65584600-65589400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:65584600-65589400	Weak transcription	Fetal Heart	heart
47	chr7:65584600-65589600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:65584600-65589600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:65584600-65589600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:65584600-65589600	Weak transcription	Fetal Brain Female	brain

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