Variant report

Variant	esv3475659
Chromosome Location	chr7:13104634-13130602
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:11)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12730592..12732679-chr7:13123373..13125180,2	K562	blood:
2	chr7:13111805..13113325-chr7:13115222..13117599,2	K562	blood:
3	chr7:13129497..13132046-chr7:13137053..13139000,2	K562	blood:
4	chr7:13085851..13087402-chr7:13106082..13107771,2	K562	blood:
5	chr7:12724403..12726396-chr7:13103717..13106545,2	K562	blood:
6	chr7:13111805..13113325-chr7:13115222..13117599,2	K562	blood:
7	chr7:13104322..13106884-chr7:13107040..13109324,2	K562	blood:
8	chr7:13099163..13101911-chr7:13106498..13108964,2	K562	blood:
9	chr7:13104322..13106884-chr7:13107040..13109324,2	K562	blood:
10	chr7:13105294..13107639-chr7:13110167..13112332,4	K562	blood:
11	chr7:13105294..13107639-chr7:13110167..13112332,4	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-7	chr7:13107622-13107733	NONHSAT119248
2	lnc-ARL4A-7	chr7:13108158-13108539	NONHSAT119247
3	lnc-ARL4A-7	chr7:13107541-13107733	NONHSAT119247

No data

Variant related genes	Relation type
ENSG00000271253	chromatin interactions

Extended variants
information (count: 798 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:798 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116445864	chr7:13104644-13104645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571726915	chr7:13104685-13104686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537249929	chr7:13104802-13104803	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77932254	chr7:13104805-13104806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567905236	chr7:13104836-13104837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140545442	chr7:13104861-13104862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534515786	chr7:13104864-13104865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536935826	chr7:13104896-13104897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542728782	chr7:13104897-13104898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188090064	chr7:13104898-13104899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192908018	chr7:13104933-13104934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562700042	chr7:13104934-13104935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7778887	chr7:13105009-13105010	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs184515414	chr7:13105016-13105017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574989900	chr7:13105119-13105120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12533128	chr7:13105138-13105139	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs561119198	chr7:13105151-13105152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529968944	chr7:13105182-13105183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189302043	chr7:13105187-13105188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560456197	chr7:13105222-13105223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528506357	chr7:13105261-13105262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192512245	chr7:13105276-13105277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563736445	chr7:13105295-13105296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571818413	chr7:13105301-13105302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10238545	chr7:13105304-13105305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371306665	chr7:13105307-13105308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10241597	chr7:13105347-13105348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372800248	chr7:13105351-13105352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10241599	chr7:13105352-13105353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74862021	chr7:13105357-13105358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376794935	chr7:13105372-13105373	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs184606683	chr7:13105417-13105418	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148333083	chr7:13105422-13105423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189005851	chr7:13105425-13105426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553260198	chr7:13105441-13105442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566776422	chr7:13105463-13105464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs6969769	chr7:13105464-13105465	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543272432	chr7:13105472-13105473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs6949649	chr7:13105483-13105484	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575276076	chr7:13105493-13105494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138300320	chr7:13105497-13105498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10241750	chr7:13105524-13105525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577236447	chr7:13105538-13105539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs6949821	chr7:13105540-13105541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs6950122	chr7:13105545-13105546	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4719349	chr7:13105551-13105552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540014749	chr7:13105565-13105566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs367712092	chr7:13105572-13105573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181660558	chr7:13105580-13105581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs139077050	chr7:13105598-13105599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13103000-13106800	Weak transcription	HepG2	liver
2	chr7:13104400-13109400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:13106400-13106600	Enhancers	K562	blood
4	chr7:13106600-13107000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:13106600-13107000	Flanking Active TSS	K562	blood
6	chr7:13106800-13107400	Enhancers	HepG2	liver
7	chr7:13107000-13117400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:13109400-13112000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:13111200-13112200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:13111400-13111800	Enhancers	Colon Smooth Muscle	Colon
11	chr7:13111400-13112200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:13111600-13112200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:13111800-13112200	Enhancers	NHEK	skin
14	chr7:13112200-13113200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:13112200-13116600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:13112200-13116600	Weak transcription	NHEK	skin
17	chr7:13113200-13113400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:13116200-13118000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:13116600-13116800	Enhancers	HMEC	breast
20	chr7:13116600-13117000	Enhancers	HSMMtube	muscle
21	chr7:13116600-13117600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:13116600-13117600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:13116600-13117600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:13116600-13117800	Enhancers	HSMM	muscle
25	chr7:13116600-13117800	Enhancers	HUVEC	blood vessel
26	chr7:13116600-13117800	Enhancers	NHEK	skin
27	chr7:13116600-13117800	Enhancers	Osteobl	bone
28	chr7:13116600-13118000	Enhancers	NH-A	brain
29	chr7:13116600-13118400	Enhancers	A549	lung
30	chr7:13116800-13117800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:13117400-13117600	Enhancers	HMEC	breast
32	chr7:13117400-13118600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:13130200-13133200	Enhancers	Liver	Liver

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