Variant report

Variant	nsv521070
Chromosome Location	chr7:50681256-50685602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:25161558..25162216-chr7:50680800..50681655,2	HCT-116	colon:
2	chr7:50685540..50687929-chr7:50689189..50691157,2	MCF-7	breast:
3	chr7:50681994..50683696-chr7:50848659..50850969,2	MCF-7	breast:
4	chr7:50677711..50679445-chr7:50681048..50682933,2	K562	blood:
5	chr7:50682338..50683151-chr7:50746616..50747511,5	MCF-7	breast:
6	chr7:50685467..50688142-chr7:50689785..50691543,2	K562	blood:
7	chr7:50680803..50682728-chr7:50861117..50864019,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	chromatin interactions
ENSG00000109618	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2715129	chr7:50681256-50681257	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540465605	chr7:50681310-50681311	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs180935977	chr7:50681314-50681315	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs114037421	chr7:50681319-50681320	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs76573181	chr7:50681348-50681349	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs3735271	chr7:50681401-50681402	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185961429	chr7:50681429-50681430	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs35744384	chr7:50681436-50681437	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs150432112	chr7:50681472-50681473	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544999927	chr7:50681488-50681489	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs564782801	chr7:50681505-50681506	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527429145	chr7:50681524-50681525	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs547266672	chr7:50681538-50681539	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561100934	chr7:50681539-50681540	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs138241744	chr7:50681550-50681551	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs192012853	chr7:50681555-50681556	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs569974961	chr7:50681565-50681566	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs537803753	chr7:50681576-50681577	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551797264	chr7:50681623-50681624	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs571638009	chr7:50681646-50681647	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs370423795	chr7:50681729-50681730	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546982089	chr7:50681784-50681785	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534334254	chr7:50681839-50681840	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568402273	chr7:50681850-50681851	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535865447	chr7:50681874-50681875	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183894820	chr7:50681937-50681938	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557603675	chr7:50681939-50681940	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149588031	chr7:50681942-50681943	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs740333	chr7:50681985-50681986	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566778395	chr7:50681986-50681987	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs556402120	chr7:50681987-50681988	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576333389	chr7:50682007-50682008	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112033777	chr7:50682096-50682097	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544676507	chr7:50682119-50682120	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143252738	chr7:50682126-50682127	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs740332	chr7:50682133-50682134	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188383837	chr7:50682134-50682135	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560981314	chr7:50682136-50682137	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529873849	chr7:50682142-50682143	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550003907	chr7:50682168-50682169	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369122199	chr7:50682289-50682290	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144161707	chr7:50682304-50682305	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532475343	chr7:50682305-50682306	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190818833	chr7:50682364-50682365	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571640326	chr7:50682407-50682408	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377054488	chr7:50682409-50682410	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs370063037	chr7:50682422-50682423	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs202131757	chr7:50682436-50682437	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs79659586	chr7:50682438-50682439	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567433158	chr7:50682439-50682440	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:127)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	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
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
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50652400-50687400	Weak transcription	Right Atrium	heart
2	chr7:50658200-50682000	Weak transcription	Colonic Mucosa	Colon
3	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:50658800-50686800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
6	chr7:50659200-50683600	Weak transcription	Small Intestine	intestine
7	chr7:50659800-50687800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:50660600-50688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:50665000-50688000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:50667000-50686200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:50667200-50682000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:50667600-50681600	Weak transcription	HepG2	liver
14	chr7:50668000-50689000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:50671200-50687400	Weak transcription	Fetal Brain Male	brain
16	chr7:50671600-50696800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:50672600-50681800	Weak transcription	Fetal Heart	heart
18	chr7:50673200-50681800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:50674000-50681400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:50674200-50694000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
22	chr7:50674400-50681600	Weak transcription	NHLF	lung
23	chr7:50674400-50699000	Weak transcription	Brain Germinal Matrix	brain
24	chr7:50676200-50681400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:50676800-50681400	Strong transcription	Liver	Liver
26	chr7:50676800-50686200	Strong transcription	Hela-S3	cervix
27	chr7:50676800-50688200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:50677000-50685800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:50677000-50686800	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:50677000-50687800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:50677000-50696000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:50677200-50682600	Strong transcription	Left Ventricle	heart
33	chr7:50677200-50683200	Strong transcription	K562	blood
34	chr7:50677200-50685400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:50677200-50685800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:50677200-50686200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:50677200-50686200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:50677200-50687200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:50677600-50688000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:50677800-50682600	Strong transcription	Fetal Lung	lung
41	chr7:50677800-50683200	Strong transcription	Aorta	Aorta
42	chr7:50677800-50683200	Strong transcription	Right Ventricle	heart
43	chr7:50677800-50683200	Strong transcription	Spleen	Spleen
44	chr7:50677800-50684200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:50677800-50686400	Strong transcription	Lung	lung
46	chr7:50678000-50682000	Strong transcription	Pancreas	Pancrea
47	chr7:50678000-50682400	Strong transcription	Gastric	stomach
48	chr7:50678000-50683200	Strong transcription	Adipose Nuclei	Adipose
49	chr7:50678000-50684800	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr7:50678400-50682400	Weak transcription	Thymus	Thymus

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