Variant report

Variant	nsv961392
Chromosome Location	chr2:33791635-33796825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr2:33793689-33793952	GM12878	blood:	n/a	n/a
2	BCL3	chr2:33792470-33792851	GM12878	blood:	n/a	n/a
3	EP300	chr2:33795947-33795998	GM12878	blood:	n/a	n/a
4	IKZF1	chr2:33795844-33795994	GM12878	blood:	n/a	n/a
5	NFIC	chr2:33795682-33796316	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:33792471-33792863	GM12891	blood:	n/a	n/a
7	POLR2A	chr2:33795144-33795461	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:33792382-33792738	GM12891	blood:	n/a	n/a
9	POLR2A	chr2:33792480-33792758	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:33793493-33794151	GM12892	blood:	n/a	n/a
11	POLR2A	chr2:33793654-33793963	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:33793437-33794131	GM12892	blood:	n/a	n/a
13	POLR2A	chr2:33793528-33793992	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:33795580-33796019	GM12892	blood:	n/a	n/a
15	POLR2A	chr2:33795164-33795390	GM12892	blood:	n/a	n/a
16	POLR2A	chr2:33792479-33792811	GM12891	blood:	n/a	n/a
17	POLR2A	chr2:33792397-33792703	GM12891	blood:	n/a	n/a
18	POLR2A	chr2:33792428-33793091	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:33795135-33796315	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:33793506-33793622	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:33792601-33792602	GM12878	blood:	n/a	n/a
22	POLR2A	chr2:33791704-33793211	GM12892	blood:	n/a	n/a
23	POLR2A	chr2:33792375-33792994	GM12892	blood:	n/a	n/a
24	POLR2A	chr2:33793439-33794509	GM12891	blood:	n/a	n/a
25	POLR2A	chr2:33793638-33794051	GM12891	blood:	n/a	n/a
26	POLR2A	chr2:33792495-33792723	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:33792573-33792677	A549	lung:	n/a	n/a
28	POLR2A	chr2:33792327-33792971	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:33791454-33793212	GM12891	blood:	n/a	n/a
30	POLR2A	chr2:33795143-33795389	GM12891	blood:	n/a	n/a
31	POLR2A	chr2:33792471-33792874	GM12892	blood:	n/a	n/a
32	POLR2A	chr2:33793422-33794086	GM12892	blood:	n/a	n/a
33	POLR2A	chr2:33793497-33794038	GM12891	blood:	n/a	n/a
34	POLR2A	chr2:33791810-33794475	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:33795828-33796101	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:33791912-33792315	GM12892	blood:	n/a	n/a
37	POLR2A	chr2:33793425-33794117	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:33792499-33792614	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr2:33792653-33792706	MCF-7	breast:	n/a	n/a
40	POLR2A	chr2:33792327-33792979	GM12892	blood:	n/a	n/a
41	RUNX3	chr2:33795748-33796136	GM12878	blood:	n/a	n/a
42	RUNX3	chr2:33795610-33796278	GM12878	blood:	n/a	n/a
43	TBL1XR1	chr2:33793885-33793987	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-9	chr2:33791907-33794471	NONHSAT070019
2	lnc-RASGRP3-6	chr2:33796659-33797058	NONHSAT070021

No data

Variant related genes	Relation type
ENSG00000237133	TF binding region

Extended variants
information (count: 226 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540962142	chr2:33791637-33791638	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs543512708	chr2:33791648-33791649	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs34896434	chr2:33791654-33791655	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs76507826	chr2:33791699-33791700	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs116805409	chr2:33791705-33791706	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs548777529	chr2:33791776-33791777	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs562589850	chr2:33791833-33791834	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs17013380	chr2:33791835-33791836	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs78629221	chr2:33791840-33791841	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs75994213	chr2:33791841-33791842	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs551402160	chr2:33791855-33791856	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs371624460	chr2:33791863-33791864	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs115588443	chr2:33791897-33791898	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532546710	chr2:33791899-33791900	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs568827329	chr2:33791922-33791923	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs185213338	chr2:33791930-33791931	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs35129733	chr2:33791949-33791950	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs551533902	chr2:33791968-33791969	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs567319123	chr2:33791971-33791972	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs560125119	chr2:33791993-33791994	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs190492015	chr2:33792022-33792023	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs575336642	chr2:33792034-33792035	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs75808796	chr2:33792042-33792043	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs193247526	chr2:33792051-33792052	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs577997057	chr2:33792060-33792061	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs540549699	chr2:33792090-33792091	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs554470816	chr2:33792096-33792097	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs113966679	chr2:33792113-33792114	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs114192976	chr2:33792148-33792149	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs80177479	chr2:33792168-33792169	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs531433420	chr2:33792208-33792209	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs545157006	chr2:33792219-33792220	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs10188452	chr2:33792222-33792223	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs35390728	chr2:33792252-33792253	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs376457959	chr2:33792261-33792262	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs114037076	chr2:33792262-33792263	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs71409634	chr2:33792278-33792279	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs113922880	chr2:33792279-33792280	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs397984268	chr2:33792294-33792295	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs372415361	chr2:33792318-33792319	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs550557005	chr2:33792329-33792330	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs143602962	chr2:33792352-33792353	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs184502779	chr2:33792357-33792358	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs374430051	chr2:33792372-33792373	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs567560801	chr2:33792376-33792377	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs187987604	chr2:33792391-33792392	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs549562868	chr2:33792408-33792409	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs550075912	chr2:33792446-33792447	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs549551137	chr2:33792525-33792526	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs571314962	chr2:33792526-33792527	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33757200-33809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:33762200-33809800	Weak transcription	Aorta	Aorta
3	chr2:33766800-33809800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:33772600-33793400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:33776000-33809800	Weak transcription	Pancreas	Pancrea
6	chr2:33778400-33796800	Weak transcription	Liver	Liver
7	chr2:33778400-33806400	Weak transcription	Primary T cells from cord blood	blood
8	chr2:33778400-33807600	Weak transcription	NH-A	brain
9	chr2:33778400-33808600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:33780000-33808600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:33780400-33808600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:33780400-33809200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:33780800-33797400	Weak transcription	Brain Angular Gyrus	brain
14	chr2:33781200-33792800	Weak transcription	HUVEC	blood vessel
15	chr2:33781200-33809800	Weak transcription	Gastric	stomach
16	chr2:33781800-33792600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:33782000-33807000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:33782200-33791800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:33784000-33792800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:33784000-33809800	Weak transcription	Right Ventricle	heart
21	chr2:33784000-33810000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:33784200-33792600	Weak transcription	Spleen	Spleen
23	chr2:33784200-33809800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:33784400-33792200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:33784400-33796000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:33784600-33808400	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:33785600-33791800	Weak transcription	Fetal Heart	heart
28	chr2:33785800-33794200	Weak transcription	NHDF-Ad	bronchial
29	chr2:33786000-33808600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:33786200-33794800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:33786400-33798400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:33786400-33808800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:33788200-33802000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:33788200-33805400	Weak transcription	Placenta	Placenta
35	chr2:33788400-33808800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:33788600-33799000	Weak transcription	Brain Substantia Nigra	brain
37	chr2:33788600-33802000	Weak transcription	Brain Anterior Caudate	brain
38	chr2:33788600-33807400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:33788600-33808600	Weak transcription	Psoas Muscle	Psoas
40	chr2:33788800-33795600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:33789400-33791800	Weak transcription	Ovary	ovary
42	chr2:33789400-33809400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:33789600-33797400	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:33789600-33808600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:33790800-33797200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:33790800-33808600	Weak transcription	Adipose Nuclei	Adipose
47	chr2:33791000-33806800	Weak transcription	Primary B cells from cord blood	blood
48	chr2:33791400-33808600	Weak transcription	Left Ventricle	heart
49	chr2:33791600-33793800	Strong transcription	GM12878-XiMat	blood
50	chr2:33791800-33792000	Enhancers	Fetal Heart	heart

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