Variant report

Variant	nsv365792
Chromosome Location	chr7:55990238-55995589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:55979940..55982331-chr7:55990429..55992641,2	K562	blood:
2	chr7:55985004..55987429-chr7:55990598..55992997,2	MCF-7	breast:
3	chr7:55973351..55975048-chr7:55990434..55993161,2	K562	blood:

Variant related genes	Relation type
ENSG00000178665	chromatin interactions

Extended variants
information (count: 213 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71015126	chr7:55990247-55990248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559934233	chr7:55990264-55990265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533342145	chr7:55990361-55990362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35373436	chr7:55990384-55990385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116931956	chr7:55990390-55990391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191281167	chr7:55990430-55990431	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184949854	chr7:55990438-55990439	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550051866	chr7:55990442-55990443	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145615535	chr7:55990482-55990483	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189679929	chr7:55990490-55990491	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547083944	chr7:55990570-55990571	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372718287	chr7:55990586-55990587	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148941632	chr7:55990619-55990620	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181724989	chr7:55990620-55990621	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542068415	chr7:55990634-55990635	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557295345	chr7:55990646-55990647	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs80297352	chr7:55990661-55990662	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530909808	chr7:55990693-55990694	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs117728754	chr7:55990694-55990695	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs367635499	chr7:55990711-55990712	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574152671	chr7:55990758-55990759	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371346466	chr7:55990796-55990797	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200331243	chr7:55990841-55990842	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368631846	chr7:55990900-55990901	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147455939	chr7:55990944-55990945	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373401601	chr7:55990945-55990946	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs199895993	chr7:55990958-55990959	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112626706	chr7:55990961-55990962	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201867289	chr7:55991006-55991007	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369544895	chr7:55991014-55991015	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143632040	chr7:55991020-55991021	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79482755	chr7:55991024-55991025	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548284079	chr7:55991033-55991034	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371810729	chr7:55991123-55991124	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530943160	chr7:55991132-55991133	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2135116	chr7:55991144-55991145	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs35103810	chr7:55991156-55991157	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112278524	chr7:55991203-55991204	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529053201	chr7:55991207-55991208	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547222511	chr7:55991222-55991223	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369624910	chr7:55991252-55991253	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374353079	chr7:55991263-55991264	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs377747679	chr7:55991267-55991268	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368757897	chr7:55991274-55991275	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs386713570	chr7:55991292-55991293	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113334002	chr7:55991293-55991294	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs140020626	chr7:55991318-55991319	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376204033	chr7:55991328-55991329	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371098692	chr7:55991333-55991334	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs142861112	chr7:55991371-55991372	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Esophageal squamous carcinoma	21637470	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Breast cancer	17142309	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55955400-56004200	Weak transcription	Gastric	stomach
2	chr7:55956200-55990800	Weak transcription	Thymus	Thymus
3	chr7:55956200-56002200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:55956400-55990600	Weak transcription	Brain Anterior Caudate	brain
5	chr7:55956400-55995800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:55956400-55998800	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:55956600-55990800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:55962000-55992800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:55967600-55995800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:55968600-55995000	Weak transcription	HSMM	muscle
11	chr7:55969800-55998200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:55971600-55993400	Weak transcription	Primary B cells from cord blood	blood
13	chr7:55971800-55992800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:55973600-55990800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:55974200-55994800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:55974400-55995600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:55974800-55993200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:55975000-56002000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:55975400-55995000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:55975600-55992800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:55975600-55992800	Weak transcription	Fetal Intestine Small	intestine
22	chr7:55975800-56006800	Weak transcription	Fetal Kidney	kidney
23	chr7:55976800-55994400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:55977200-55992400	Weak transcription	Small Intestine	intestine
25	chr7:55977200-55994400	Weak transcription	Hela-S3	cervix
26	chr7:55977800-55997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:55978600-55995400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:55978800-55999400	Weak transcription	Placenta	Placenta
29	chr7:55979000-55994200	Weak transcription	NH-A	brain
30	chr7:55979400-55990600	Weak transcription	Fetal Heart	heart
31	chr7:55980000-55999000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:55980000-56001400	Weak transcription	Spleen	Spleen
33	chr7:55980200-55990800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:55980200-55991800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:55980400-56004000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:55980600-55990600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:55980600-55990800	Weak transcription	Brain Substantia Nigra	brain
38	chr7:55980600-55999400	Weak transcription	Psoas Muscle	Psoas
39	chr7:55980600-56001200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:55980600-56004200	Weak transcription	Right Ventricle	heart
41	chr7:55980800-55990600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:55980800-55991200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:55980800-55995400	Weak transcription	A549	lung
44	chr7:55980800-55999400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:55981000-55993600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:55981200-55990600	Weak transcription	Aorta	Aorta
47	chr7:55981400-55990600	Weak transcription	Brain Angular Gyrus	brain
48	chr7:55981400-55990800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:55981400-55992600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:55981600-55995600	Weak transcription	Primary B cells from peripheral blood	blood

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