Variant report

Variant	nsv887627
Chromosome Location	chr7:12178793-12227892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12197794..12199915-chr7:12250140..12252778,2	MCF-7	breast:
2	chr7:12193169..12195612-chr7:12198878..12201480,2	K562	blood:
3	chr7:12193169..12195612-chr7:12198878..12201480,2	K562	blood:
4	chr7:12197065..12199564-chr7:12248019..12250882,2	K562	blood:
5	chr20:32891034..32891612-chr7:12186432..12186932,2	HCT-116	colon:
6	chr7:12225855..12227603-chr7:12250296..12252361,2	K562	blood:

Variant related genes	Relation type
ENSG00000106460	chromatin interactions
ENSG00000101444	chromatin interactions

Extended variants
information (count: 1528 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1528 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10274501	chr7:12178793-12178794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538179889	chr7:12178823-12178824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1990599	chr7:12178832-12178833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574603671	chr7:12178835-12178836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141935609	chr7:12178837-12178838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565742462	chr7:12178849-12178850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201870775	chr7:12178876-12178877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73291081	chr7:12178878-12178879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530083663	chr7:12178891-12178892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546948961	chr7:12178903-12178904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376609438	chr7:12178914-12178915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577415234	chr7:12178916-12178917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6971781	chr7:12178933-12178934	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs111635556	chr7:12178996-12178997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576655517	chr7:12179029-12179030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150650749	chr7:12179072-12179073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562124494	chr7:12179098-12179099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73678623	chr7:12179106-12179107	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539153858	chr7:12179109-12179110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564194059	chr7:12179159-12179160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73291082	chr7:12179168-12179169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542083608	chr7:12179194-12179195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569479687	chr7:12179208-12179209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549755060	chr7:12179240-12179241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139792428	chr7:12179273-12179274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537728503	chr7:12179311-12179312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548499280	chr7:12179330-12179331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6976319	chr7:12179363-12179364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533963376	chr7:12179406-12179407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538806428	chr7:12179411-12179412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142012486	chr7:12179422-12179423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146303342	chr7:12179463-12179464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375074916	chr7:12179471-12179472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191624965	chr7:12179472-12179473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139472604	chr7:12179485-12179486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541473177	chr7:12179559-12179560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117274091	chr7:12179596-12179597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28471043	chr7:12179597-12179598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs17165651	chr7:12179627-12179628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564378610	chr7:12179630-12179631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531989852	chr7:12179632-12179633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144173659	chr7:12179633-12179634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75844035	chr7:12179657-12179658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544706587	chr7:12179678-12179679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564597488	chr7:12179687-12179688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377320328	chr7:12179699-12179700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575134873	chr7:12179719-12179720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549130947	chr7:12179747-12179748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528468260	chr7:12179748-12179749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553730528	chr7:12179752-12179753	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12178000-12180000	Enhancers	NH-A	brain
2	chr7:12178400-12179600	Enhancers	Hela-S3	cervix
3	chr7:12178600-12179600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:12186200-12186800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:12186200-12187000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:12186400-12187600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:12187200-12188600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:12187200-12188600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:12190200-12190400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:12190400-12190600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:12191400-12192600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr7:12191400-12192800	Enhancers	Fetal Intestine Large	intestine
13	chr7:12192000-12192800	Enhancers	Fetal Intestine Small	intestine
14	chr7:12193800-12194400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:12194800-12198400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:12196600-12197000	Enhancers	A549	lung
17	chr7:12197000-12197400	Weak transcription	A549	lung
18	chr7:12197400-12197800	Enhancers	A549	lung
19	chr7:12197800-12198400	Flanking Active TSS	A549	lung
20	chr7:12198200-12198600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:12198200-12198600	Enhancers	NH-A	brain
22	chr7:12198400-12198600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:12198400-12198800	Active TSS	A549	lung
24	chr7:12198600-12201000	Weak transcription	NH-A	brain
25	chr7:12198600-12201600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:12198600-12208200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:12198800-12199000	Enhancers	A549	lung
28	chr7:12199000-12201200	Weak transcription	A549	lung
29	chr7:12200400-12200800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:12200800-12201200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:12201000-12202200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:12201000-12202600	Enhancers	NH-A	brain
33	chr7:12201000-12202800	Enhancers	Hela-S3	cervix
34	chr7:12201200-12201800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:12201200-12201800	Enhancers	A549	lung
36	chr7:12201400-12202400	Enhancers	HUVEC	blood vessel
37	chr7:12201600-12202200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:12201600-12202600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:12201600-12202800	Enhancers	Osteobl	bone
40	chr7:12201800-12202200	Flanking Active TSS	A549	lung
41	chr7:12202000-12202600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:12202000-12202600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:12202200-12202600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:12202200-12202600	Active TSS	A549	lung
45	chr7:12202400-12202800	Flanking Active TSS	HUVEC	blood vessel
46	chr7:12202800-12203200	Enhancers	HUVEC	blood vessel
47	chr7:12207800-12209200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:12208200-12208600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:12208600-12209200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:12209000-12209400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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