Variant report

Variant	esv6357
Chromosome Location	chr10:42384910-42393842
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:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:42387191..42387693-chr16:34189725..34190226,2	MCF-7	breast:
2	chr10:42385048..42385927-chr20:45917973..45918793,2	MCF-7	breast:
3	chr10:42385202..42385933-chr7:149119111..149120081,2	MCF-7	breast:
4	chr10:42387171..42387692-chr16:33888891..33889406,2	MCF-7	breast:
5	chr10:42385049..42385862-chr2:89835873..89836374,2	MCF-7	breast:
6	chr1:115646794..115647295-chr10:42392648..42393148,2	MCF-7	breast:
7	chr10:42384702..42385548-chr19:46850298..46850828,2	MCF-7	breast:
8	chr10:42385424..42387506-chr16:88876940..88878642,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-12	chr10:42389851-42389943	NONHSAT012847
2	lnc-BMS1-11	chr10:42385001-42385282	NONHSAT012848
3	lnc-BMS1-12	chr10:42391195-42391205	NONHSAT012847
4	lnc-BMS1-12	chr10:42387203-42387475	NONHSAT012847

No data

Variant related genes	Relation type
ENSG00000011485	chromatin interactions
ENSG00000261842	chromatin interactions
ENSG00000198931	chromatin interactions

Extended variants
information (count: 2929 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2929 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28832412	chr10:42384914-42384915	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs9702763	chr10:42384918-42384919	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553838068	chr10:42384928-42384929	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567251131	chr10:42384934-42384935	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536394578	chr10:42384939-42384940	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs36174946	chr10:42384942-42384943	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555975960	chr10:42384946-42384947	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576045738	chr10:42384950-42384951	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs9703850	chr10:42384951-42384952	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538058452	chr10:42384954-42384955	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12416155	chr10:42384960-42384961	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs36185148	chr10:42384967-42384968	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12261796	chr10:42384973-42384974	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12411338	chr10:42384979-42384980	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557902550	chr10:42384981-42384982	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540505853	chr10:42384987-42384988	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560139973	chr10:42384990-42384991	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs3965953	chr10:42384992-42384993	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11488762	chr10:42384995-42384996	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74216867	chr10:42384999-42385000	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs28765514	chr10:42385003-42385004	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs9702218	chr10:42385009-42385010	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs77168982	chr10:42385010-42385011	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs35703592	chr10:42385016-42385017	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs4261847	chr10:42385030-42385031	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs2169993	chr10:42385031-42385032	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs562846994	chr10:42385032-42385033	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs4353775	chr10:42385036-42385037	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs531805526	chr10:42385040-42385041	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs35736942	chr10:42385041-42385042	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs28877678	chr10:42385044-42385045	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs551620439	chr10:42385046-42385047	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs9703375	chr10:42385047-42385048	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs34404070	chr10:42385061-42385062	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs565058109	chr10:42385063-42385064	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs527612656	chr10:42385067-42385068	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs34348488	chr10:42385081-42385082	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs71303665	chr10:42385085-42385086	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs547711356	chr10:42385090-42385091	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs28864978	chr10:42385091-42385092	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs567296588	chr10:42385092-42385093	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs4464412	chr10:42385093-42385094	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs71230959	chr10:42385094-42385095	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs4435588	chr10:42385097-42385098	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs4368472	chr10:42385098-42385099	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs74205438	chr10:42385099-42385100	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs199541541	chr10:42385100-42385101	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs28809587	chr10:42385104-42385105	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs12266524	chr10:42385105-42385106	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs535877944	chr10:42385111-42385112	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20858243	CNVD
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42373600-42385200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr10:42373600-42385400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:42373600-42385600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:42373600-42385600	ZNF genes & repeats	Lung	lung
5	chr10:42373600-42385800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:42373600-42385800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
7	chr10:42373600-42385800	ZNF genes & repeats	Pancreas	Pancrea
8	chr10:42373600-42385800	ZNF genes & repeats	K562	blood
9	chr10:42373600-42386000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:42373600-42386000	ZNF genes & repeats	Aorta	Aorta
11	chr10:42373600-42387800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
12	chr10:42373600-42388200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr10:42373600-42388200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr10:42373600-42388200	ZNF genes & repeats	Placenta	Placenta
15	chr10:42373600-42388200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
16	chr10:42373600-42388400	ZNF genes & repeats	Spleen	Spleen
17	chr10:42373600-42388600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
18	chr10:42373600-42389400	ZNF genes & repeats	Stomach Mucosa	stomach
19	chr10:42373600-42397200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
20	chr10:42373600-42397200	ZNF genes & repeats	GM12878-XiMat	blood
21	chr10:42373600-42397200	ZNF genes & repeats	HUVEC	blood vessel
22	chr10:42373600-42397400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
23	chr10:42373600-42399600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:42373600-42399600	ZNF genes & repeats	Fetal Kidney	kidney
25	chr10:42373600-42400800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr10:42373600-42400800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:42373600-42400800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:42373600-42400800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:42373600-42400800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
32	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
34	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
35	chr10:42373600-42400800	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr10:42373600-42400800	ZNF genes & repeats	Brain Angular Gyrus	brain
37	chr10:42373600-42400800	ZNF genes & repeats	Brain Anterior Caudate	brain
38	chr10:42373600-42400800	ZNF genes & repeats	Brain Hippocampus Middle	brain
39	chr10:42373600-42400800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
40	chr10:42373600-42400800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
41	chr10:42373600-42400800	ZNF genes & repeats	Brain Substantia Nigra	brain
42	chr10:42373600-42400800	ZNF genes & repeats	Colon Smooth Muscle	Colon
43	chr10:42373600-42400800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
44	chr10:42373600-42400800	ZNF genes & repeats	Fetal Heart	heart
45	chr10:42373600-42400800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr10:42373600-42400800	ZNF genes & repeats	Fetal Lung	lung
47	chr10:42373600-42400800	ZNF genes & repeats	Gastric	stomach
48	chr10:42373600-42400800	ZNF genes & repeats	Left Ventricle	heart
49	chr10:42373600-42400800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
50	chr10:42373600-42400800	ZNF genes & repeats	Rectal Smooth Muscle	rectum

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