Variant report

Variant	nsv438326
Chromosome Location	chr2:46723219-46726210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:46724100-46724250	SK-N-SH_RA	brain:	n/a	n/a
2	FOS	chr2:46725868-46726183	HUVEC	blood vessel:	n/a	n/a
3	MXI1	chr2:46725963-46728174	SK-N-SH	brain:	n/a	chr2:46727430-46727439
4	POLR2A	chr2:46723940-46723963	MCF-7	breast:	n/a	n/a
5	POLR2A	chr2:46725007-46725019	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46705265..46709008-chr2:46724758..46728950,5	K562	blood:
2	chr2:46726104..46727862-chr2:46768328..46770840,3	MCF-7	breast:
3	chr2:46721184..46729524-chr2:46766976..46775977,14	K562	blood:
4	chr2:46724562..46726815-chr2:46734008..46735625,2	MCF-7	breast:
5	chr2:46724349..46729821-chr2:46769212..46772070,6	MCF-7	breast:
6	chr2:46721452..46724242-chr2:46727690..46730244,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253515	TF binding region
ENSG00000250565	chromatin interactions
ENSG00000119729	chromatin interactions
ENSG00000187600	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568375226	chr2:46723219-46723220	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs376492220	chr2:46723220-46723221	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534551576	chr2:46723227-46723228	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs186814235	chr2:46723265-46723266	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs557055828	chr2:46723269-46723270	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111928734	chr2:46723285-46723286	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs149913881	chr2:46723335-46723336	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs114662165	chr2:46723343-46723344	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs6741821	chr2:46723365-46723366	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541743304	chr2:46723376-46723377	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs564623115	chr2:46723414-46723415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571138492	chr2:46723425-46723426	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs374500636	chr2:46723544-46723545	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538655640	chr2:46723583-46723584	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs116707330	chr2:46723608-46723609	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560699174	chr2:46723618-46723619	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs144942191	chr2:46723625-46723626	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374928964	chr2:46723639-46723640	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs78689499	chr2:46723685-46723686	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113310901	chr2:46723693-46723694	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs559357853	chr2:46723694-46723695	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs551629128	chr2:46723700-46723701	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs142035757	chr2:46723736-46723737	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs571440078	chr2:46723742-46723743	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs532754031	chr2:46723743-46723744	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs147747433	chr2:46723751-46723752	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs112111880	chr2:46723761-46723762	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531239589	chr2:46723772-46723773	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs567440776	chr2:46723775-46723776	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200503394	chr2:46723830-46723831	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs536366687	chr2:46723846-46723847	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553087478	chr2:46723847-46723848	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566520322	chr2:46723849-46723850	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs538247637	chr2:46723858-46723859	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs558488497	chr2:46723880-46723881	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs191252153	chr2:46723907-46723908	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544068292	chr2:46723917-46723918	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555538977	chr2:46723934-46723935	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs557150618	chr2:46723953-46723954	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs566165102	chr2:46723985-46723986	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs573881711	chr2:46723996-46723997	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs543087172	chr2:46724012-46724013	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs6713990	chr2:46724016-46724017	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs78788956	chr2:46724022-46724023	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs528524666	chr2:46724112-46724113	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs545081037	chr2:46724148-46724149	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs4953394	chr2:46724178-46724179	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs182575934	chr2:46724262-46724263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs4953395	chr2:46724271-46724272	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187089687	chr2:46724276-46724277	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
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
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	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46718200-46726600	Weak transcription	Aorta	Aorta
2	chr2:46718400-46726600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:46718600-46725600	Weak transcription	Brain Substantia Nigra	brain
4	chr2:46718600-46726600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:46718600-46726600	Weak transcription	Right Ventricle	heart
6	chr2:46718800-46726400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:46718800-46726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:46718800-46727000	Weak transcription	Spleen	Spleen
9	chr2:46720600-46723400	Enhancers	Fetal Brain Male	brain
10	chr2:46721000-46726600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:46721200-46726600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:46721200-46726600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:46721200-46726600	Weak transcription	Left Ventricle	heart
14	chr2:46721400-46724800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:46721400-46725400	Weak transcription	Hela-S3	cervix
16	chr2:46721400-46726600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:46721600-46724400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:46721600-46724600	Weak transcription	GM12878-XiMat	blood
19	chr2:46721600-46724800	Weak transcription	Brain Anterior Caudate	brain
20	chr2:46722000-46724000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:46722000-46726600	Weak transcription	Brain Germinal Matrix	brain
22	chr2:46722200-46723400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:46722400-46723400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:46722400-46723600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:46722600-46723400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:46722600-46723400	Enhancers	NHDF-Ad	bronchial
27	chr2:46722600-46723400	Enhancers	Osteobl	bone
28	chr2:46722600-46723600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:46722600-46723600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:46722800-46723400	Enhancers	NHLF	lung
31	chr2:46722800-46726600	Weak transcription	Fetal Brain Female	brain
32	chr2:46723200-46723400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:46723200-46726600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:46723200-46726600	Weak transcription	NH-A	brain
35	chr2:46723400-46724600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:46723400-46726600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:46723400-46726600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:46723400-46726600	Weak transcription	NHLF	lung
39	chr2:46723400-46726600	Weak transcription	Osteobl	bone
40	chr2:46723600-46724600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:46724000-46726400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:46724400-46724800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:46724400-46726400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:46724600-46724800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:46724600-46724800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:46724600-46724800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:46724600-46724800	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr2:46724600-46725000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:46724600-46725600	Enhancers	GM12878-XiMat	blood
50	chr2:46724600-46726000	Enhancers	Monocytes-CD14+_RO01746	blood

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