Variant report

Variant	esv1815666
Chromosome Location	chr7:38485901-38499850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:38489919..38492334-chr7:38492644..38495218,2	K562	blood:
2	chr7:38491211..38492331-chr7:38671592..38672516,5	MCF-7	breast:
3	chr7:38491273..38492093-chr7:38671152..38672318,4	MCF-7	breast:
4	chr7:38489919..38492334-chr7:38492644..38495218,2	K562	blood:
5	chr7:38494078..38495935-chr7:38691855..38693892,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078053	chromatin interactions

Extended variants
information (count: 559 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187298344	chr7:38485916-38485917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61552847	chr7:38485917-38485918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190958047	chr7:38485918-38485919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529007493	chr7:38485924-38485925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182784795	chr7:38485953-38485954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs57878896	chr7:38485980-38485981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534275986	chr7:38485991-38485992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377269577	chr7:38486047-38486048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56706599	chr7:38486067-38486068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs147338397	chr7:38486072-38486073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199970625	chr7:38486075-38486076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35450573	chr7:38486084-38486085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536933262	chr7:38486111-38486112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58483691	chr7:38486129-38486130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs60677625	chr7:38486169-38486170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79158076	chr7:38486192-38486193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139269696	chr7:38486215-38486216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555854961	chr7:38486234-38486235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564065313	chr7:38486247-38486248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185884841	chr7:38486329-38486330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10258436	chr7:38486330-38486331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs541483814	chr7:38486332-38486333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564312575	chr7:38486357-38486358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532940141	chr7:38486392-38486393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533714271	chr7:38486418-38486419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551120400	chr7:38486464-38486465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2276534	chr7:38486540-38486541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189950209	chr7:38486559-38486560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34576492	chr7:38486565-38486566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2276535	chr7:38486569-38486570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs35968358	chr7:38486617-38486618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6462842	chr7:38486625-38486626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2110654	chr7:38486626-38486627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201294100	chr7:38486628-38486629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548932279	chr7:38486629-38486630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374561514	chr7:38486633-38486634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2276536	chr7:38486641-38486642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571891346	chr7:38486705-38486706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113699729	chr7:38486722-38486723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6462843	chr7:38486723-38486724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2276537	chr7:38486738-38486739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs2276538	chr7:38486783-38486784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553201694	chr7:38486789-38486790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377089149	chr7:38486794-38486795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13238960	chr7:38486841-38486842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183250542	chr7:38486862-38486863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188170665	chr7:38486888-38486889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2276539	chr7:38486909-38486910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577925621	chr7:38486914-38486915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376699101	chr7:38486962-38486963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38431600-38489000	Weak transcription	Brain Angular Gyrus	brain
2	chr7:38467800-38495600	Weak transcription	Aorta	Aorta
3	chr7:38468400-38492000	Weak transcription	Fetal Heart	heart
4	chr7:38469200-38491600	Weak transcription	Fetal Stomach	stomach
5	chr7:38471200-38492200	Weak transcription	Fetal Lung	lung
6	chr7:38471800-38498200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:38475600-38488600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:38476000-38501600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:38480000-38488800	Weak transcription	Gastric	stomach
10	chr7:38487200-38488200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:38487600-38489800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:38488000-38489200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:38488600-38489000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:38488600-38489800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:38488800-38489000	Enhancers	Gastric	stomach
16	chr7:38488800-38489200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:38489000-38489800	Enhancers	Brain Angular Gyrus	brain
18	chr7:38489000-38491600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:38489200-38489600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:38489600-38489800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:38489600-38489800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:38489800-38491600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:38489800-38491600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:38489800-38492800	Weak transcription	Brain Angular Gyrus	brain
25	chr7:38490800-38492600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr7:38491600-38493000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:38491600-38493200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:38491600-38493400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:38491600-38493600	Enhancers	Fetal Stomach	stomach
30	chr7:38491800-38492800	Enhancers	Rectal Smooth Muscle	rectum
31	chr7:38491800-38493200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:38491800-38493200	Enhancers	NHDF-Ad	bronchial
33	chr7:38492000-38493200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr7:38492000-38493200	Enhancers	Fetal Heart	heart
35	chr7:38492200-38492600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:38492200-38492600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr7:38492200-38492600	Enhancers	HSMMtube	muscle
38	chr7:38492200-38492800	Enhancers	Brain Hippocampus Middle	brain
39	chr7:38492200-38493200	Enhancers	Fetal Muscle Leg	muscle
40	chr7:38492200-38493200	Enhancers	NHLF	lung
41	chr7:38492200-38493400	Enhancers	Fetal Kidney	kidney
42	chr7:38492200-38493400	Enhancers	Fetal Lung	lung
43	chr7:38492400-38492800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:38492400-38492800	Enhancers	Brain Cingulate Gyrus	brain
45	chr7:38492400-38492800	Enhancers	Colon Smooth Muscle	Colon
46	chr7:38492800-38493200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:38492800-38493400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:38492800-38503000	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:38493200-38499800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:38493400-38499800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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