Variant report

Variant	esv3390814
Chromosome Location	chr7:19915761-19956597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:19953806..19956698-chr7:19965814..19968012,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MACC1-1	chr7:19938142-19938370	NONHSAT119395

Extended variants
information (count: 1161 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147750961	chr7:19915770-19915771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535550613	chr7:19915779-19915780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140986931	chr7:19915796-19915797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568942887	chr7:19915821-19915822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554387559	chr7:19915873-19915874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34092128	chr7:19915892-19915893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111717670	chr7:19915908-19915909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181438446	chr7:19915926-19915927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572756839	chr7:19915941-19915942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34699516	chr7:19915949-19915950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186064062	chr7:19915963-19915964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189952442	chr7:19915979-19915980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1159874	chr7:19916619-19916620	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558109139	chr7:19916637-19916638	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs145504482	chr7:19916650-19916651	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs564644527	chr7:19916675-19916676	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs140250797	chr7:19916681-19916682	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs540555714	chr7:19916687-19916688	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs562446254	chr7:19916693-19916694	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368268959	chr7:19916736-19916737	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73089251	chr7:19916745-19916746	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs150357379	chr7:19916766-19916767	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs372352155	chr7:19916775-19916776	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs2390198	chr7:19916778-19916779	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562554220	chr7:19916798-19916799	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs533221700	chr7:19916807-19916808	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs145213891	chr7:19916846-19916847	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs369510157	chr7:19916854-19916855	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs191117905	chr7:19916880-19916881	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs183472312	chr7:19916922-19916923	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs2390199	chr7:19916939-19916940	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567506668	chr7:19916958-19916959	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs188410252	chr7:19916961-19916962	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs556089575	chr7:19916967-19916968	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs528104184	chr7:19916968-19916969	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs111828471	chr7:19916984-19916985	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs58299397	chr7:19916990-19916991	Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs561076290	chr7:19929000-19929001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs561826354	chr7:19929014-19929015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs137988587	chr7:19929029-19929030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs550785852	chr7:19929082-19929083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs562706905	chr7:19929083-19929084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs567650258	chr7:19929095-19929096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs551609233	chr7:19929104-19929105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs184819835	chr7:19929106-19929107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs534238370	chr7:19929125-19929126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs549092017	chr7:19929133-19929134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs567775002	chr7:19929136-19929137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs536684164	chr7:19929142-19929143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs112747511	chr7:19929145-19929146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19915400-19916000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:19916600-19917000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:19916600-19917000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr7:19929000-19929600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:19938200-19938400	Enhancers	Colon Smooth Muscle	Colon
6	chr7:19938200-19938600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr7:19938400-19939200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:19938600-19939600	Enhancers	A549	lung
9	chr7:19939000-19939200	Enhancers	Colon Smooth Muscle	Colon
10	chr7:19939000-19939400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:19939000-19939800	Enhancers	NHDF-Ad	bronchial
12	chr7:19939000-19940000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:19939000-19940000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:19939000-19940000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:19939200-19939400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:19939200-19939600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr7:19939400-19955400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:19939600-19940000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:19939600-19940000	Flanking Active TSS	A549	lung
20	chr7:19945200-19947000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr7:19945400-19946400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:19945400-19947800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr7:19945600-19946200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:19946800-19947200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:19951000-19952200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr7:19951200-19959800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:19952000-19960000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:19952200-19954600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:19952200-19955000	Weak transcription	NHEK	skin
30	chr7:19954600-19956400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr7:19954800-19956400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:19954800-19973000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:19955000-19956200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:19955000-19956600	Enhancers	NHEK	skin
35	chr7:19955000-19957000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:19955200-19956000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:19955200-19956000	Enhancers	HMEC	breast
38	chr7:19955200-19956000	Enhancers	HSMM	muscle
39	chr7:19955200-19956200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr7:19955200-19956200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:19955200-19956200	Enhancers	A549	lung
42	chr7:19955200-19956600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:19955200-19958600	Enhancers	HUVEC	blood vessel
44	chr7:19955400-19956000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:19955400-19956200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:19955400-19956400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:19955400-19956400	Enhancers	NHDF-Ad	bronchial
48	chr7:19955600-19956200	Enhancers	NH-A	brain
49	chr7:19955800-19957000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:19956000-19958800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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