Variant report

Variant	nsv828330
Chromosome Location	chr2:10702518-10706354
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:3)
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	chr2:10699769..10703142-chr2:10704473..10707229,3	K562	blood:
2	chr2:10586592..10589799-chr2:10701839..10704499,3	K562	blood:
3	chr2:10601253..10603779-chr2:10706014..10708775,2	K562	blood:
4	chr2:10703297..10704818-chr2:10710965..10713487,2	K562	blood:
5	chr2:10706246..10708825-chr2:10732569..10734672,2	MCF-7	breast:
6	chr2:10704742..10707402-chr2:10805825..10808809,2	K562	blood:
7	chr2:10587804..10589799-chr2:10701094..10703339,3	K562	blood:
8	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	chr2:10702418-10702867	NONHSAT069120
2	lnc-HPCAL1-2	chr2:10705039-10705534	NONHSAT069120
3	lnc-HPCAL1-2	chr2:10704445-10704973	NONHSAT069120

No data

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

Extended variants
information (count: 144 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553115704	chr2:10702518-10702519	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs184913319	chr2:10702536-10702537	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs71392233	chr2:10702541-10702542	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs141024581	chr2:10702542-10702543	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs544544755	chr2:10702602-10702603	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs369116370	chr2:10702678-10702679	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs556469150	chr2:10702742-10702743	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs529751386	chr2:10702803-10702804	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs13003763	chr2:10702823-10702824	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs541811872	chr2:10702863-10702864	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs113223577	chr2:10702864-10702865	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs560536419	chr2:10702868-10702869	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs527824545	chr2:10702892-10702893	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs548388800	chr2:10702915-10702916	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs567076690	chr2:10702955-10702956	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs6748865	chr2:10703123-10703124	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564370291	chr2:10703139-10703140	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs531764468	chr2:10703168-10703169	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs550074196	chr2:10703171-10703172	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs188600134	chr2:10703176-10703177	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs554771741	chr2:10703203-10703204	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs547922586	chr2:10703230-10703231	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs10175555	chr2:10703233-10703234	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs150009567	chr2:10703267-10703268	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs533683740	chr2:10703281-10703282	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs13429202	chr2:10703283-10703284	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs558663020	chr2:10703289-10703290	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs570681951	chr2:10703304-10703305	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs537998158	chr2:10703360-10703361	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs556501714	chr2:10703440-10703441	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs574690197	chr2:10703454-10703455	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs6730897	chr2:10703476-10703477	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553915039	chr2:10703500-10703501	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs193166300	chr2:10703518-10703519	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs545918028	chr2:10703548-10703549	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs78263329	chr2:10703560-10703561	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs185042637	chr2:10703566-10703567	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs6713013	chr2:10703579-10703580	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs562303173	chr2:10703595-10703596	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs555011857	chr2:10703657-10703658	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs189949761	chr2:10703660-10703661	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs548053406	chr2:10703691-10703692	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs566372373	chr2:10703699-10703700	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs527251703	chr2:10703719-10703720	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs552317215	chr2:10703723-10703724	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs570516090	chr2:10703725-10703726	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs71439018	chr2:10703733-10703734	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs537937351	chr2:10703740-10703741	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs181132815	chr2:10703745-10703746	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs377141649	chr2:10703748-10703749	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:189 , 50 per page) page: 1 2 3 4

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	chr2:10692200-10709600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:10692600-10705400	Weak transcription	Fetal Thymus	thymus
5	chr2:10693000-10708800	Weak transcription	NHEK	skin
6	chr2:10694200-10710000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:10695400-10704600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:10696000-10704400	Weak transcription	Lung	lung
9	chr2:10696000-10709200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:10696000-10710200	Weak transcription	Left Ventricle	heart
11	chr2:10696600-10710000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:10697600-10704600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:10697600-10705000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:10697600-10708800	Weak transcription	Thymus	Thymus
15	chr2:10697800-10705600	Weak transcription	Brain Anterior Caudate	brain
16	chr2:10698000-10709000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:10698200-10706000	Weak transcription	Brain Angular Gyrus	brain
18	chr2:10698200-10706000	Weak transcription	NH-A	brain
19	chr2:10698200-10709000	Weak transcription	Dnd41	blood
20	chr2:10698200-10709800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:10698400-10705200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:10698600-10705000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:10698600-10736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:10698800-10704400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:10698800-10709200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:10698800-10710400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:10699000-10705800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:10699000-10706200	Weak transcription	Gastric	stomach
29	chr2:10699000-10707400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:10699000-10709000	Weak transcription	Esophagus	oesophagus
31	chr2:10699000-10709400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:10699000-10709800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:10699200-10705400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:10699200-10705800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:10699200-10708800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:10699200-10709200	Weak transcription	Liver	Liver
37	chr2:10699400-10705400	Weak transcription	HSMMtube	muscle
38	chr2:10699400-10706000	Weak transcription	Primary B cells from cord blood	blood
39	chr2:10699400-10709000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:10699400-10711000	Weak transcription	GM12878-XiMat	blood
41	chr2:10699400-10716200	Weak transcription	Fetal Brain Male	brain
42	chr2:10699600-10704600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:10699600-10704800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:10699600-10709000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:10699800-10705800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:10700400-10708800	Weak transcription	Fetal Intestine Large	intestine
47	chr2:10700600-10704400	Weak transcription	A549	lung
48	chr2:10700800-10704600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:10700800-10708800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:10700800-10709800	Weak transcription	Placenta	Placenta

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