Variant report

Variant	nsv887828
Chromosome Location	chr7:19874391-19959826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:19899734..19901908-chr7:19902300..19904189,2	K562	blood:
2	chr3:63777404..63778151-chr7:19886673..19887328,2	MCF-7	breast:
3	chr7:19873630..19875873-chr7:19878314..19880296,2	K562	blood:
4	chr7:19899612..19901422-chr7:19904101..19906352,2	MCF-7	breast:
5	chr7:19953806..19956698-chr7:19965814..19968012,2	K562	blood:
6	chr7:19880470..19882183-chr7:19884471..19887080,2	K562	blood:
7	chr7:19880470..19882183-chr7:19884471..19887080,2	K562	blood:
8	chr7:19900301..19903128-chr7:19903366..19905836,3	MCF-7	breast:
9	chr7:19899734..19901908-chr7:19902300..19904189,2	K562	blood:
10	chr7:19873630..19875873-chr7:19878314..19880296,2	K562	blood:
11	chr7:19900301..19903128-chr7:19903366..19905836,3	MCF-7	breast:
12	chr7:19899612..19901422-chr7:19904101..19906352,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MACC1-1	chr7:19938142-19938370	NONHSAT119395
2	lnc-MACC1-1	chr7:19958615-19958883	ENSG00000243004.1
3	lnc-MACC1-1	chr7:19959489-19959600	ENSG00000243004.1
4	lnc-MACC1-1	chr7:19958602-19958883	NONHSAT119395
5	lnc-MACC1-1	chr7:19958604-19958883	ENSG00000243004.1
6	lnc-MACC1-1	chr7:19958823-19958883	ENSG00000243004.1
7	lnc-MACC1-1	chr7:19958604-19958883	NR_110114
8	lnc-MACC1-1	chr7:19959489-19960253	NONHSAT119395

No data

Extended variants
information (count: 1542 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1542 , 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	rs17453222	chr7:19874391-19874392	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145543119	chr7:19874422-19874423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373350335	chr7:19874458-19874459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375625374	chr7:19874469-19874470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556810400	chr7:19874484-19874485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563169656	chr7:19874486-19874487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373205083	chr7:19874487-19874488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533683499	chr7:19874488-19874489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75889119	chr7:19874506-19874507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148956453	chr7:19874516-19874517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527786825	chr7:19874542-19874543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548558580	chr7:19874550-19874551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549499177	chr7:19874580-19874581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145742184	chr7:19874649-19874650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34499822	chr7:19874658-19874659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71880316	chr7:19874663-19874664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs398003894	chr7:19874674-19874675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146575098	chr7:19874698-19874699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185325671	chr7:19874764-19874765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571500943	chr7:19874768-19874769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141253725	chr7:19874785-19874786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553346080	chr7:19874790-19874791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571749524	chr7:19874826-19874827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535853507	chr7:19874839-19874840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190875270	chr7:19874899-19874900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568795365	chr7:19874942-19874943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183539103	chr7:19875010-19875011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs67286757	chr7:19875030-19875031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs578174074	chr7:19875040-19875041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562974995	chr7:19875061-19875062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188647432	chr7:19875065-19875066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545762874	chr7:19875087-19875088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144965583	chr7:19875093-19875094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527647515	chr7:19875125-19875126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542797972	chr7:19880604-19880605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs528219998	chr7:19880636-19880637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs575981993	chr7:19880659-19880660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs6953958	chr7:19880689-19880690	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs151271450	chr7:19880702-19880703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs571190360	chr7:19880714-19880715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564873451	chr7:19880776-19880777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs532299841	chr7:19880800-19880801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs547365301	chr7:19880812-19880813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs111474424	chr7:19880827-19880828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs565579246	chr7:19880875-19880876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs140463661	chr7:19880905-19880906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs34232887	chr7:19880918-19880919	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558798745	chr7:19880961-19880962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs375454046	chr7:19881034-19881035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73263272	chr7:19881045-19881046	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	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
Pleomorphic liposarcoma	18784837	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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19873800-19874400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:19873800-19874800	Enhancers	NHEK	skin
3	chr7:19874000-19874400	Flanking Active TSS	A549	lung
4	chr7:19874200-19875000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:19874400-19874600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:19874400-19875200	Enhancers	A549	lung
7	chr7:19874800-19875200	Enhancers	HMEC	breast
8	chr7:19880600-19881200	ZNF genes & repeats	Small Intestine	intestine
9	chr7:19881000-19881200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:19887600-19888000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:19889800-19890000	Enhancers	Pancreas	Pancrea
12	chr7:19890000-19891200	Weak transcription	Pancreas	Pancrea
13	chr7:19890800-19891000	Enhancers	A549	lung
14	chr7:19891000-19891400	Flanking Active TSS	A549	lung
15	chr7:19891200-19891400	ZNF genes & repeats	Pancreas	Pancrea
16	chr7:19891400-19891600	Weak transcription	Pancreas	Pancrea
17	chr7:19891600-19892000	Enhancers	Pancreas	Pancrea
18	chr7:19896000-19896400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:19904000-19904600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:19914000-19914200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:19915400-19916000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:19916600-19917000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:19916600-19917000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr7:19929000-19929600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:19938200-19938400	Enhancers	Colon Smooth Muscle	Colon
26	chr7:19938200-19938600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr7:19938400-19939200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr7:19938600-19939600	Enhancers	A549	lung
29	chr7:19939000-19939200	Enhancers	Colon Smooth Muscle	Colon
30	chr7:19939000-19939400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:19939000-19939800	Enhancers	NHDF-Ad	bronchial
32	chr7:19939000-19940000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:19939000-19940000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:19939000-19940000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:19939200-19939400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:19939200-19939600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr7:19939400-19955400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:19939600-19940000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:19939600-19940000	Flanking Active TSS	A549	lung
40	chr7:19945200-19947000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr7:19945400-19946400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:19945400-19947800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr7:19945600-19946200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:19946800-19947200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:19951000-19952200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr7:19951200-19959800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:19952000-19960000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:19952200-19954600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:19952200-19955000	Weak transcription	NHEK	skin
50	chr7:19954600-19956400	Enhancers	Pancreatic Islets	Pancreatic Islet

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