Variant report

Variant	nsv824151
Chromosome Location	chr7:66494072-66508524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66508015..66509853-chr7:66521858..66523452,2	K562	blood:
2	chr7:66506194..66508281-chr7:66765871..66767933,2	MCF-7	breast:
3	chr7:66486194..66489134-chr7:66492643..66494345,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106610	chromatin interactions
ENSG00000067601	chromatin interactions

Extended variants
information (count: 565 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568156640	chr7:66494087-66494088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377688550	chr7:66494130-66494131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187352044	chr7:66494176-66494177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547599890	chr7:66494186-66494187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62466623	chr7:66494187-66494188	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113552508	chr7:66494206-66494207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539659328	chr7:66494209-66494210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149137524	chr7:66494261-66494262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190662400	chr7:66494263-66494264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536117332	chr7:66494268-66494269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200461165	chr7:66494280-66494281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556088267	chr7:66494283-66494284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75692021	chr7:66494305-66494306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572120727	chr7:66494310-66494311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111986251	chr7:66494331-66494332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368977681	chr7:66494370-66494371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111867563	chr7:66494373-66494374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367759948	chr7:66494390-66494391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371248285	chr7:66494392-66494393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201404433	chr7:66494393-66494394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183169083	chr7:66494394-66494395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs376157509	chr7:66494396-66494397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369405186	chr7:66494397-66494398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372042534	chr7:66494398-66494399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377125147	chr7:66494400-66494401	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28729977	chr7:66494402-66494403	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59614347	chr7:66494404-66494405	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199966184	chr7:66494406-66494407	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369527991	chr7:66494411-66494412	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187817911	chr7:66494419-66494420	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55802244	chr7:66494420-66494421	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374527210	chr7:66494421-66494422	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577633567	chr7:66494467-66494468	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543253835	chr7:66494471-66494472	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370592068	chr7:66494484-66494485	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563455737	chr7:66494502-66494503	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13438213	chr7:66494592-66494593	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374682145	chr7:66494632-66494633	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548913352	chr7:66494754-66494755	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559197440	chr7:66494768-66494769	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527712060	chr7:66494792-66494793	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193290400	chr7:66494808-66494809	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs56907687	chr7:66494832-66494833	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533419243	chr7:66494844-66494845	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184172913	chr7:66494897-66494898	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372353680	chr7:66494899-66494900	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530995301	chr7:66494902-66494903	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150791543	chr7:66494944-66494945	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139066108	chr7:66494967-66494968	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556124617	chr7:66494986-66494987	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66462400-66496000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:66462400-66500200	Weak transcription	Psoas Muscle	Psoas
3	chr7:66462400-66508000	Weak transcription	Stomach Mucosa	stomach
4	chr7:66462600-66497200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:66462800-66494600	Weak transcription	Esophagus	oesophagus
6	chr7:66463000-66507800	Weak transcription	Fetal Brain Male	brain
7	chr7:66463200-66510000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:66470400-66495200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:66470600-66494800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr7:66476800-66496800	Weak transcription	NHLF	lung
11	chr7:66477000-66495000	Weak transcription	Right Ventricle	heart
12	chr7:66477000-66499000	Weak transcription	Colonic Mucosa	Colon
13	chr7:66478800-66494600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:66480400-66494800	Weak transcription	Fetal Kidney	kidney
15	chr7:66480800-66494800	Weak transcription	Pancreas	Pancrea
16	chr7:66483400-66494600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:66483400-66495000	Weak transcription	Brain Germinal Matrix	brain
18	chr7:66483400-66502000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:66483400-66551200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:66483600-66534400	Weak transcription	Aorta	Aorta
21	chr7:66483800-66494800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:66484400-66494600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:66484400-66494600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:66484400-66494600	Weak transcription	Spleen	Spleen
25	chr7:66485000-66494400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:66485000-66494600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:66485600-66494200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:66485800-66501000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:66486400-66494600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:66486400-66531600	Weak transcription	Ovary	ovary
31	chr7:66486600-66494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:66486600-66494600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:66486600-66494800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:66486600-66494800	Weak transcription	Left Ventricle	heart
35	chr7:66486600-66507600	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:66487000-66515800	Weak transcription	Fetal Brain Female	brain
37	chr7:66487000-66576600	Weak transcription	Gastric	stomach
38	chr7:66487800-66494600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:66487800-66494600	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:66487800-66494600	Weak transcription	Brain Substantia Nigra	brain
41	chr7:66487800-66494600	Weak transcription	Lung	lung
42	chr7:66487800-66494600	Weak transcription	K562	blood
43	chr7:66487800-66508600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:66488000-66494400	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:66488000-66494600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:66488000-66494600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:66488000-66494600	Weak transcription	Primary B cells from cord blood	blood
48	chr7:66488000-66494600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:66488000-66494600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr7:66488000-66494800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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