Variant report

Variant	nsv887628
Chromosome Location	chr7:12186502-12227892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000106460	chromatin interactions
ENSG00000101444	chromatin interactions

Extended variants
information (count: 1440 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1440 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6947990	chr7:12186502-12186503	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6968030	chr7:12186537-12186538	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs10240239	chr7:12186593-12186594	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs13236057	chr7:12186602-12186603	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546361208	chr7:12186604-12186605	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190698806	chr7:12186625-12186626	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369908205	chr7:12186630-12186631	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10226723	chr7:12186650-12186651	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs182575827	chr7:12186669-12186670	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150216281	chr7:12186705-12186706	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77022080	chr7:12186741-12186742	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs75783233	chr7:12186748-12186749	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76609578	chr7:12186773-12186774	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73292959	chr7:12186782-12186783	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552346700	chr7:12186783-12186784	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568997685	chr7:12186791-12186792	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138749528	chr7:12186835-12186836	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538047406	chr7:12186836-12186837	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368722366	chr7:12186915-12186916	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373831200	chr7:12186924-12186925	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553418334	chr7:12186942-12186943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149345297	chr7:12186959-12186960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568182473	chr7:12186962-12186963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187283174	chr7:12186974-12186975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190974937	chr7:12186991-12186992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376235223	chr7:12187007-12187008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182724972	chr7:12187010-12187011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189039087	chr7:12187013-12187014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117578024	chr7:12187019-12187020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74615446	chr7:12187031-12187032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193007362	chr7:12187067-12187068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147440633	chr7:12187074-12187075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527817808	chr7:12187076-12187077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541007784	chr7:12187084-12187085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs80261411	chr7:12187085-12187086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532427965	chr7:12187128-12187129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531279067	chr7:12187209-12187210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552146915	chr7:12187248-12187249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183275684	chr7:12187258-12187259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62433259	chr7:12187280-12187281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs543159982	chr7:12187302-12187303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548419948	chr7:12187323-12187324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77934718	chr7:12187324-12187325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187247779	chr7:12187325-12187326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79921899	chr7:12187339-12187340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373291856	chr7:12187357-12187358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570391066	chr7:12187361-12187362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10230454	chr7:12187393-12187394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544092975	chr7:12187404-12187405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2111478	chr7:12187415-12187416	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12186200-12186800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:12186200-12187000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:12186400-12187600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:12187200-12188600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:12187200-12188600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:12190200-12190400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:12190400-12190600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:12191400-12192600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr7:12191400-12192800	Enhancers	Fetal Intestine Large	intestine
10	chr7:12192000-12192800	Enhancers	Fetal Intestine Small	intestine
11	chr7:12193800-12194400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:12194800-12198400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:12196600-12197000	Enhancers	A549	lung
14	chr7:12197000-12197400	Weak transcription	A549	lung
15	chr7:12197400-12197800	Enhancers	A549	lung
16	chr7:12197800-12198400	Flanking Active TSS	A549	lung
17	chr7:12198200-12198600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:12198200-12198600	Enhancers	NH-A	brain
19	chr7:12198400-12198600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:12198400-12198800	Active TSS	A549	lung
21	chr7:12198600-12201000	Weak transcription	NH-A	brain
22	chr7:12198600-12201600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:12198600-12208200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:12198800-12199000	Enhancers	A549	lung
25	chr7:12199000-12201200	Weak transcription	A549	lung
26	chr7:12200400-12200800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:12200800-12201200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:12201000-12202200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:12201000-12202600	Enhancers	NH-A	brain
30	chr7:12201000-12202800	Enhancers	Hela-S3	cervix
31	chr7:12201200-12201800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:12201200-12201800	Enhancers	A549	lung
33	chr7:12201400-12202400	Enhancers	HUVEC	blood vessel
34	chr7:12201600-12202200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:12201600-12202600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:12201600-12202800	Enhancers	Osteobl	bone
37	chr7:12201800-12202200	Flanking Active TSS	A549	lung
38	chr7:12202000-12202600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:12202000-12202600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:12202200-12202600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:12202200-12202600	Active TSS	A549	lung
42	chr7:12202400-12202800	Flanking Active TSS	HUVEC	blood vessel
43	chr7:12202800-12203200	Enhancers	HUVEC	blood vessel
44	chr7:12207800-12209200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:12208200-12208600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:12208600-12209200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:12209000-12209400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:12209000-12209800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr7:12209200-12209800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:12209200-12209800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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