Variant report

Variant	esv3420933
Chromosome Location	chr10:44437771-44440319
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:5)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:44431204..44432720-chr10:44436776..44439206,2	MCF-7	breast:
2	chr10:44432654..44435706-chr10:44438627..44441733,3	K562	blood:
3	chr10:44436082..44438732-chr10:44441086..44443148,2	K562	blood:
4	chr10:44436249..44437922-chr10:44454148..44455778,2	MCF-7	breast:
5	chr10:44432874..44435706-chr10:44438627..44440384,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf136-1	chr10:44439305-44439481	XLOC_008473
2	lnc-C10orf136-1	chr10:44438640-44438729	XLOC_008473
3	lnc-C10orf136-1	chr10:44439305-44439439	XLOC_008473
4	lnc-C10orf136-1	chr10:44439305-44439439	XLOC_008473
5	lnc-C10orf136-1	chr10:44439305-44439481	XLOC_008473
6	lnc-C10orf136-1	chr10:44439305-44439481	NONHSAT013008
7	lnc-C10orf136-1	chr10:44438640-44438729	XLOC_008473
8	lnc-C10orf136-1	chr10:44438640-44438729	XLOC_008473
9	lnc-C10orf136-1	chr10:44438643-44438729	XLOC_008473
10	lnc-C10orf136-1	chr10:44438643-44438729	NONHSAT013008
11	lnc-C10orf136-1	chr10:44439305-44439413	XLOC_008473
12	lnc-C10orf136-1	chr10:44438640-44438729	XLOC_008473
13	lnc-C10orf136-1	chr10:44438685-44438729	XLOC_008473
14	lnc-C10orf136-1	chr10:44439810-44439914	XLOC_008473

No data

Variant related genes	Relation type
ENSG00000233395	chromatin interactions
NME6	miRNA target sites
REEP3	miRNA target sites
NOL4	miRNA target sites

Extended variants
information (count: 82 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79001753	chr10:44437780-44437781	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs527337600	chr10:44437815-44437816	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs534700989	chr10:44437867-44437868	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs142570943	chr10:44437889-44437890	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs112452969	chr10:44437910-44437911	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs10793509	chr10:44437946-44437947	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531649502	chr10:44437954-44437955	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs145845724	chr10:44437959-44437960	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs193158488	chr10:44438094-44438095	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs567941586	chr10:44438096-44438097	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs573134625	chr10:44438149-44438150	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs529048586	chr10:44438173-44438174	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs531557173	chr10:44438225-44438226	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs185362729	chr10:44438234-44438235	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs190210057	chr10:44438263-44438264	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs539499113	chr10:44438290-44438291	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs558157442	chr10:44438291-44438292	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs550764922	chr10:44438353-44438354	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs17154678	chr10:44438371-44438372	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs377124671	chr10:44438372-44438373	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs2798996	chr10:44438425-44438426	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs115496495	chr10:44438441-44438442	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs369999385	chr10:44438467-44438468	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs182272828	chr10:44438491-44438492	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs201816171	chr10:44438496-44438497	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs186377721	chr10:44438632-44438633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs191561658	chr10:44438646-44438647	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs147802653	chr10:44438649-44438650	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs374060867	chr10:44438691-44438692	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs545545178	chr10:44438692-44438693	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs564142552	chr10:44438698-44438699	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs117396572	chr10:44438744-44438745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188337433	chr10:44438757-44438758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs77187429	chr10:44438758-44438759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs115176124	chr10:44438764-44438765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs180692959	chr10:44438786-44438787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535402009	chr10:44438793-44438794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11238782	chr10:44438863-44438864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11238783	chr10:44438866-44438867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570062468	chr10:44438959-44438960	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537439824	chr10:44438963-44438964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555661837	chr10:44438995-44438996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555511645	chr10:44439071-44439072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549739468	chr10:44439086-44439087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112026996	chr10:44439087-44439088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535290128	chr10:44439093-44439094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553545995	chr10:44439121-44439122	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs17154683	chr10:44439126-44439127	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs141084197	chr10:44439134-44439135	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557563882	chr10:44439206-44439207	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
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
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44434200-44438400	Enhancers	Fetal Brain Male	brain
2	chr10:44434200-44438800	Enhancers	Fetal Muscle Leg	muscle
3	chr10:44434400-44438200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr10:44434400-44438600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:44434400-44438600	Enhancers	NHDF-Ad	bronchial
6	chr10:44434400-44441600	Enhancers	Fetal Heart	heart
7	chr10:44434600-44439200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:44434600-44439200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr10:44434800-44438800	Enhancers	Fetal Stomach	stomach
10	chr10:44434800-44439200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:44435000-44438000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:44435000-44438800	Enhancers	Fetal Lung	lung
13	chr10:44435000-44439600	Enhancers	Fetal Thymus	thymus
14	chr10:44435200-44441200	Enhancers	Left Ventricle	heart
15	chr10:44435400-44438000	Enhancers	Fetal Brain Female	brain
16	chr10:44435400-44438400	Enhancers	NHLF	lung
17	chr10:44435400-44438600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:44435400-44441000	Enhancers	Right Atrium	heart
19	chr10:44435600-44437800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr10:44435600-44437800	Enhancers	Spleen	Spleen
21	chr10:44435600-44438000	Enhancers	Duodenum Mucosa	Duodenum
22	chr10:44435600-44438600	Enhancers	Stomach Smooth Muscle	stomach
23	chr10:44435800-44438400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr10:44435800-44438400	Enhancers	Stomach Mucosa	stomach
25	chr10:44435800-44439200	Weak transcription	Lung	lung
26	chr10:44436000-44440600	Weak transcription	Osteobl	bone
27	chr10:44436400-44437800	Enhancers	Pancreas	Pancrea
28	chr10:44436400-44438000	Weak transcription	GM12878-XiMat	blood
29	chr10:44436400-44440600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:44437200-44438400	Weak transcription	Thymus	Thymus
31	chr10:44437400-44438400	Weak transcription	Fetal Kidney	kidney
32	chr10:44437400-44438400	Weak transcription	Ovary	ovary
33	chr10:44437400-44441400	Enhancers	Primary hematopoietic stem cells	blood
34	chr10:44437600-44438000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:44437600-44438000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr10:44437600-44438600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:44437600-44438600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr10:44437600-44440200	Weak transcription	Right Ventricle	heart
39	chr10:44437600-44460800	Weak transcription	Gastric	stomach
40	chr10:44437800-44438000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr10:44437800-44438400	Enhancers	Dnd41	blood
42	chr10:44438000-44438400	Enhancers	Brain Cingulate Gyrus	brain
43	chr10:44438000-44439200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr10:44438000-44439800	Enhancers	GM12878-XiMat	blood
45	chr10:44438200-44438400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr10:44438200-44438400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:44438400-44438600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr10:44438400-44438600	Enhancers	Fetal Kidney	kidney
49	chr10:44438400-44438600	Enhancers	Ovary	ovary
50	chr10:44438400-44439600	Enhancers	Primary B cells from peripheral blood	blood

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