Variant report

Variant	nsv522123
Chromosome Location	chr2:10696583-10705639
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:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:10704742..10707402-chr2:10805825..10808809,2	K562	blood:
2	chr2:10703297..10704818-chr2:10710965..10713487,2	K562	blood:
3	chr2:10586592..10589799-chr2:10701839..10704499,3	K562	blood:
4	chr2:10586794..10589703-chr2:10696395..10698624,4	K562	blood:
5	chr2:10690817..10693702-chr2:10693915..10697831,3	K562	blood:
6	chr2:10660893..10663493-chr2:10697519..10700150,2	K562	blood:
7	chr2:10692099..10694408-chr2:10696409..10700147,3	MCF-7	breast:
8	chr2:10688125..10690392-chr2:10697109..10699588,2	K562	blood:
9	chr2:10691848..10694045-chr2:10699355..10701357,2	K562	blood:
10	chr2:10673867..10676091-chr2:10699484..10701243,2	K562	blood:
11	chr2:10697686..10698232-chr2:10799865..10800609,2	MCF-7	breast:
12	chr2:10587804..10589799-chr2:10701094..10703339,3	K562	blood:
13	chr2:10699769..10703142-chr2:10704473..10707229,3	K562	blood:
14	chr2:10699769..10703142-chr2:10704473..10707229,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPCAL1-2	chr2:10705039-10705534	NONHSAT069120
2	lnc-HPCAL1-2	chr2:10702418-10702867	NONHSAT069120
3	lnc-HPCAL1-2	chr2:10704445-10704973	NONHSAT069120

No data

Variant related genes	Relation type
ENSG00000206633	chromatin interactions
ENSG00000257135	chromatin interactions
ENSG00000115758	chromatin interactions

Extended variants
information (count: 393 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1534398	chr2:10696583-10696584	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140025210	chr2:10696592-10696593	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs1534399	chr2:10696597-10696598	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs12617012	chr2:10696615-10696616	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs185992339	chr2:10696657-10696658	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs75498026	chr2:10696665-10696666	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs544523481	chr2:10696678-10696679	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs181258792	chr2:10696720-10696721	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs2357649	chr2:10696788-10696789	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs1534400	chr2:10696833-10696834	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566869369	chr2:10696846-10696847	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs76187612	chr2:10696850-10696851	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs143669170	chr2:10696863-10696864	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs191018593	chr2:10696872-10696873	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs2357650	chr2:10696877-10696878	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550078357	chr2:10696887-10696888	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs182363442	chr2:10696888-10696889	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs146337769	chr2:10696891-10696892	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs139680885	chr2:10696928-10696929	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs553213320	chr2:10696948-10696949	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs186305505	chr2:10696957-10696958	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs533919403	chr2:10696958-10696959	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs573188095	chr2:10696960-10696961	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs558347184	chr2:10696963-10696964	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs190777333	chr2:10696969-10696970	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs147919165	chr2:10696988-10696989	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs538184058	chr2:10696989-10696990	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs144028879	chr2:10696990-10696991	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs542070593	chr2:10696998-10696999	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs565133467	chr2:10697003-10697004	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs377311032	chr2:10697004-10697005	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs70953309	chr2:10697013-10697014	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs62128597	chr2:10697014-10697015	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs62128598	chr2:10697017-10697018	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs376603978	chr2:10697031-10697032	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs531076579	chr2:10697035-10697036	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs544386944	chr2:10697138-10697139	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs142939284	chr2:10697152-10697153	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs151115758	chr2:10697170-10697171	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs542136236	chr2:10697183-10697184	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs544341040	chr2:10697190-10697191	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs560506203	chr2:10697196-10697197	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs527667032	chr2:10697197-10697198	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs6432103	chr2:10697233-10697234	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564391452	chr2:10697246-10697247	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs531943987	chr2:10697250-10697251	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs549913134	chr2:10697357-10697358	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs78292058	chr2:10697380-10697381	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs529071187	chr2:10697383-10697384	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs536372661	chr2:10697407-10697408	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10688200-10708800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:10689200-10710600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:10689800-10701800	Weak transcription	Pancreas	Pancrea
4	chr2:10690800-10698800	Weak transcription	Fetal Brain Female	brain
5	chr2:10691200-10701400	Weak transcription	Right Atrium	heart
6	chr2:10691800-10700800	Weak transcription	Spleen	Spleen
7	chr2:10692200-10709600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:10692600-10705400	Weak transcription	Fetal Thymus	thymus
9	chr2:10693000-10708800	Weak transcription	NHEK	skin
10	chr2:10693200-10700200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:10693200-10700200	Weak transcription	Brain Germinal Matrix	brain
12	chr2:10694200-10700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:10694200-10710000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:10695200-10696600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr2:10695200-10696600	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:10695200-10696800	Enhancers	Fetal Muscle Leg	muscle
17	chr2:10695400-10704600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:10696000-10701200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:10696000-10701200	Weak transcription	Right Ventricle	heart
20	chr2:10696000-10704400	Weak transcription	Lung	lung
21	chr2:10696000-10709200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:10696000-10710200	Weak transcription	Left Ventricle	heart
23	chr2:10696200-10698000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:10696400-10700200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:10696400-10701400	Weak transcription	Adipose Nuclei	Adipose
26	chr2:10696600-10697000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr2:10696600-10701200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:10696600-10710000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:10696800-10698200	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:10697000-10700400	Weak transcription	Fetal Intestine Small	intestine
31	chr2:10697200-10700000	Weak transcription	Primary T cells from cord blood	blood
32	chr2:10697600-10701800	Weak transcription	NHLF	lung
33	chr2:10697600-10704600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:10697600-10705000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:10697600-10708800	Weak transcription	Thymus	Thymus
36	chr2:10697800-10698800	Enhancers	Fetal Muscle Trunk	muscle
37	chr2:10697800-10700000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:10697800-10700600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:10697800-10701200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:10697800-10705600	Weak transcription	Brain Anterior Caudate	brain
41	chr2:10698000-10698600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:10698000-10698800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:10698000-10700200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:10698000-10709000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:10698200-10698400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:10698200-10698600	Enhancers	Fetal Muscle Leg	muscle
47	chr2:10698200-10699000	Enhancers	Gastric	stomach
48	chr2:10698200-10701400	Weak transcription	Ovary	ovary
49	chr2:10698200-10706000	Weak transcription	Brain Angular Gyrus	brain
50	chr2:10698200-10706000	Weak transcription	NH-A	brain

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