Variant report

Variant	nsv607414
Chromosome Location	chr7:65591205-65591719
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	CEBPB	chr7:65591107-65591439	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:65591009-65591242	IMR90	lung:	n/a	n/a
4	CREB1	chr7:65591116-65591528	HepG2	liver:	n/a	n/a
5	CREB1	chr7:65591108-65591494	HepG2	liver:	n/a	n/a
6	EP300	chr7:65591335-65591337	HepG2	liver:	n/a	n/a
7	EP300	chr7:65589055-65593016	SK-N-SH	brain:	n/a	n/a
8	EP300	chr7:65589624-65591467	SK-N-SH_RA	brain:	n/a	n/a
9	EP300	chr7:65589901-65591506	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr7:65590995-65591417	HepG2	liver:	n/a	n/a
11	FOXA1	chr7:65591032-65591403	HepG2	liver:	n/a	n/a
12	FOXA1	chr7:65590974-65591393	HepG2	liver:	n/a	n/a
13	FOXA1	chr7:65590979-65591417	HepG2	liver:	n/a	n/a
14	FOXA2	chr7:65591116-65591330	HepG2	liver:	n/a	n/a
15	GATA2	chr7:65589995-65591421	SH-SY5Y	brain:	n/a	chr7:65590897-65590910
16	GATA3	chr7:65591677-65592081	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr7:65589751-65591451	SH-SY5Y	brain:	n/a	chr7:65590897-65590910
18	JUN	chr7:65591127-65591394	HepG2	liver:	n/a	chr7:65591167-65591180
19	JUND	chr7:65591066-65591387	HepG2	liver:	n/a	n/a
20	JUND	chr7:65591056-65591402	HepG2	liver:	n/a	n/a
21	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
22	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
23	MXI1	chr7:65591086-65591393	HepG2	liver:	n/a	n/a
24	NR2F2	chr7:65591160-65591523	HepG2	liver:	n/a	n/a
25	NR2F2	chr7:65591099-65591536	HepG2	liver:	n/a	n/a
26	POLR2A	chr7:65590710-65591425	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr7:65590578-65591359	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr7:65589988-65591398	PFSK-1	brain:	n/a	n/a
29	RAD21	chr7:65590622-65591451	SK-N-SH_RA	brain:	n/a	n/a
30	RAD21	chr7:65590615-65591388	SK-N-SH_RA	brain:	n/a	n/a
31	REST	chr7:65590738-65591268	SK-N-SH	brain:	n/a	n/a
32	SIN3AK20	chr7:65590679-65591383	SK-N-SH	brain:	n/a	n/a
33	SP1	chr7:65590980-65591503	HepG2	liver:	n/a	n/a
34	TCF12	chr7:65589912-65591488	SK-N-SH	brain:	n/a	chr7:65590520-65590529
35	TCF7L2	chr7:65591045-65591671	HepG2	liver:	n/a	n/a
36	YY1	chr7:65590592-65591238	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65578700..65580373-chr7:65590797..65592694,2	MCF-7	breast:
2	chr7:65590686..65593391-chr7:66020104..66022935,2	K562	blood:

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

Extended variants
information (count: 18 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs316315	chr7:65591205-65591206	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559039537	chr7:65591218-65591219	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs570743494	chr7:65591219-65591220	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs188351622	chr7:65591226-65591227	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs117400998	chr7:65591248-65591249	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs574596891	chr7:65591249-65591250	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs570950092	chr7:65591279-65591280	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs180805915	chr7:65591292-65591293	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs75872929	chr7:65591324-65591325	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs200861359	chr7:65591354-65591355	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs67015067	chr7:65591355-65591356	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs528595222	chr7:65591356-65591357	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs398066942	chr7:65591357-65591358	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs576524394	chr7:65591380-65591381	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs542209583	chr7:65591403-65591404	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs145406283	chr7:65591489-65591490	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs574626822	chr7:65591596-65591597	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs62467450	chr7:65591692-65591693	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65580600-65600600	Weak transcription	Aorta	Aorta
2	chr7:65580800-65606800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:65581000-65595600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:65581000-65595600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:65581000-65595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:65581000-65597000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:65581000-65617200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:65581200-65596000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:65581400-65595400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:65581400-65595800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:65581400-65596400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:65581600-65604800	Weak transcription	Colonic Mucosa	Colon
13	chr7:65581800-65595200	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:65581800-65595600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:65581800-65595800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:65582000-65595200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:65582000-65595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:65582400-65608200	Weak transcription	Fetal Brain Male	brain
19	chr7:65582600-65595000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr7:65582600-65596400	Weak transcription	NH-A	brain
21	chr7:65583000-65594400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:65583000-65596000	Weak transcription	Thymus	Thymus
23	chr7:65583200-65592400	Weak transcription	Right Ventricle	heart
24	chr7:65583400-65592200	Weak transcription	Lung	lung
25	chr7:65583600-65593600	Weak transcription	Primary B cells from cord blood	blood
26	chr7:65584400-65594400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:65584400-65596000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:65584600-65592200	Weak transcription	Gastric	stomach
29	chr7:65584600-65592200	Weak transcription	Left Ventricle	heart
30	chr7:65584600-65592200	Weak transcription	Right Atrium	heart
31	chr7:65584600-65592400	Weak transcription	Fetal Intestine Small	intestine
32	chr7:65584600-65593800	Weak transcription	Fetal Intestine Large	intestine
33	chr7:65584600-65594800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:65584600-65595800	Weak transcription	Spleen	Spleen
35	chr7:65584600-65596000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:65584600-65596000	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:65584600-65596000	Weak transcription	Esophagus	oesophagus
38	chr7:65584600-65596200	Weak transcription	Brain Angular Gyrus	brain
39	chr7:65584600-65596200	Weak transcription	Brain Germinal Matrix	brain
40	chr7:65584600-65597000	Weak transcription	HMEC	breast
41	chr7:65584800-65591600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:65584800-65594600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:65584800-65594800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:65584800-65595200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:65584800-65595200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:65584800-65595600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr7:65584800-65595800	Weak transcription	A549	lung
48	chr7:65584800-65596200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:65585400-65596200	Weak transcription	NHEK	skin
50	chr7:65585400-65604400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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