Variant report

Variant	nsv526627
Chromosome Location	chr7:38497295-38503023
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	ATF1	chr7:38500375-38500379	K562	blood:	n/a	n/a
2	CTCF	chr7:38501648-38501673	GM20000	blood:	n/a	n/a
3	GATA3	chr7:38498331-38498443	SH-SY5Y	brain:	n/a	n/a
4	IRF1	chr7:38502965-38503544	K562	blood:	n/a	chr7:38503282-38503292 chr7:38503356-38503370 chr7:38503352-38503365 chr7:38503124-38503135 chr7:38503351-38503371 chr7:38503124-38503137 chr7:38503349-38503366 chr7:38503123-38503143 chr7:38503124-38503138 chr7:38503125-38503135 chr7:38503355-38503369 chr7:38503352-38503365 chr7:38503352-38503365 chr7:38503356-38503370 chr7:38503352-38503365 chr7:38503119-38503136 chr7:38503352-38503366 chr7:38503125-38503139
5	MXI1	chr7:38497715-38497757	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:38502118-38502196	MCF10A-Er-Src	breast:	n/a	n/a
7	RFX5	chr7:38501768-38501770	K562	blood:	n/a	n/a
8	STAT3	chr7:38499852-38500012	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
AMPH	TF binding region

Extended variants
information (count: 232 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:232 , 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	rs6943730	chr7:38497295-38497296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149552981	chr7:38497326-38497327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535342171	chr7:38497367-38497368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555560505	chr7:38497392-38497393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6944037	chr7:38497394-38497395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557262009	chr7:38497570-38497571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10266944	chr7:38497603-38497604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143247725	chr7:38497624-38497625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78053839	chr7:38497628-38497629	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs546251806	chr7:38497635-38497636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562847352	chr7:38497639-38497640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576828341	chr7:38497659-38497660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143300224	chr7:38497669-38497670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6944528	chr7:38497730-38497731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192033153	chr7:38497734-38497735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183476567	chr7:38497770-38497771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547968814	chr7:38497816-38497817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564068945	chr7:38497879-38497880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368764309	chr7:38497880-38497881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534790775	chr7:38497943-38497944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532848985	chr7:38497968-38497969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188416338	chr7:38497969-38497970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569282863	chr7:38497997-38497998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535377476	chr7:38498002-38498003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193195823	chr7:38498019-38498020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565961477	chr7:38498024-38498025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34962954	chr7:38498062-38498063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372748778	chr7:38498093-38498094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534555283	chr7:38498108-38498109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557917848	chr7:38498113-38498114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183981749	chr7:38498114-38498115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539911284	chr7:38498159-38498160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6978850	chr7:38498230-38498231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs576461729	chr7:38498362-38498363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542515046	chr7:38498372-38498373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377505699	chr7:38498396-38498397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147546478	chr7:38498404-38498405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116056785	chr7:38498410-38498411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77806162	chr7:38498463-38498464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73692389	chr7:38498484-38498485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564681986	chr7:38498515-38498516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187118106	chr7:38498559-38498560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573238586	chr7:38498580-38498581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73120213	chr7:38498602-38498603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs543080808	chr7:38498627-38498628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562947592	chr7:38498661-38498662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528903219	chr7:38498711-38498712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548952964	chr7:38498719-38498720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78975645	chr7:38498720-38498721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371857364	chr7:38498725-38498726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38471800-38498200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:38476000-38501600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:38492800-38503000	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:38493200-38499800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:38493400-38499800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:38493600-38502200	Weak transcription	Fetal Stomach	stomach
7	chr7:38496400-38502600	Weak transcription	Aorta	Aorta
8	chr7:38499400-38506800	Weak transcription	Left Ventricle	heart
9	chr7:38499800-38500200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:38499800-38500400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:38499800-38501800	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:38499800-38523600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:38500200-38503200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:38500400-38502600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:38500800-38501000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:38501000-38502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:38501000-38522400	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:38501600-38501800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr7:38501600-38501800	Enhancers	Brain Angular Gyrus	brain
20	chr7:38501600-38502000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:38501600-38503800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:38501800-38502000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:38501800-38502600	Weak transcription	Brain Angular Gyrus	brain
24	chr7:38501800-38502800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:38501800-38522600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:38502000-38503200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:38502000-38512200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:38502200-38502600	Strong transcription	Fetal Stomach	stomach
29	chr7:38502400-38502600	Enhancers	GM12878-XiMat	blood
30	chr7:38502600-38502800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:38502600-38502800	Enhancers	Primary B cells from peripheral blood	blood
32	chr7:38502600-38502800	ZNF genes & repeats	Aorta	Aorta
33	chr7:38502600-38503000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr7:38502600-38503000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr7:38502600-38503000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr7:38502600-38503200	Flanking Active TSS	GM12878-XiMat	blood
37	chr7:38502600-38503600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:38502600-38503600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr7:38502600-38503800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:38502600-38503800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr7:38502600-38503800	Enhancers	Dnd41	blood
42	chr7:38502600-38504000	Enhancers	Brain Angular Gyrus	brain
43	chr7:38502600-38549400	Weak transcription	Fetal Stomach	stomach
44	chr7:38502800-38503000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:38502800-38503000	Enhancers	Small Intestine	intestine
46	chr7:38502800-38503200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr7:38502800-38503600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:38502800-38503600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr7:38502800-38503600	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr7:38502800-38503800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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