Variant report

Variant	esv3431362
Chromosome Location	chr2:38929298-38931196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38926804..38930306-chr2:38930620..38933051,3	K562	blood:
2	chr2:38926804..38930306-chr2:38930620..38933051,3	K562	blood:
3	chr2:38828746..38831144-chr2:38930016..38932480,2	MCF-7	breast:
4	chr2:38918111..38919788-chr2:38928353..38930489,2	K562	blood:
5	chr2:38833505..38836464-chr2:38931124..38932679,2	K562	blood:
6	chr2:38822893..38825624-chr2:38929270..38931305,2	K562	blood:
7	chr2:38827983..38829732-chr2:38929974..38932004,2	K562	blood:

Variant related genes	Relation type
ENSG00000235586	chromatin interactions
ENSG00000143889	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544444445	chr2:38929315-38929316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543652340	chr2:38929329-38929330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562671463	chr2:38929404-38929405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530047081	chr2:38929406-38929407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541719774	chr2:38929426-38929427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6743790	chr2:38929437-38929438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537354534	chr2:38929441-38929442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193049182	chr2:38929485-38929486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546706894	chr2:38929493-38929494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76456514	chr2:38929510-38929511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564058139	chr2:38929519-38929520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73930944	chr2:38929526-38929527	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532449475	chr2:38929604-38929605	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs184827263	chr2:38929735-38929736	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs569312055	chr2:38929980-38929981	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143376662	chr2:38930035-38930036	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200308718	chr2:38930058-38930059	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs367870067	chr2:38930068-38930069	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs529622273	chr2:38930073-38930074	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs202010853	chr2:38930074-38930075	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528450782	chr2:38930075-38930076	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs551905121	chr2:38930076-38930077	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs548571354	chr2:38930121-38930122	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs180971551	chr2:38930191-38930192	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs571816426	chr2:38930230-38930231	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372823196	chr2:38930232-38930233	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs7569727	chr2:38930234-38930235	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs4347811	chr2:38930236-38930237	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs528122035	chr2:38930311-38930312	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs185062041	chr2:38930326-38930327	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs370249649	chr2:38930327-38930328	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs533803824	chr2:38930352-38930353	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs546715676	chr2:38930353-38930354	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs558562002	chr2:38930364-38930365	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs577056928	chr2:38930421-38930422	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs189477959	chr2:38930440-38930441	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs556335553	chr2:38930444-38930445	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs535256213	chr2:38930475-38930476	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs574502437	chr2:38930537-38930538	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs542131623	chr2:38930538-38930539	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs149578028	chr2:38930556-38930557	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572290015	chr2:38930595-38930596	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs181903414	chr2:38930610-38930611	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs564934525	chr2:38930612-38930613	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs532479633	chr2:38930627-38930628	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs111862747	chr2:38930635-38930636	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs563118295	chr2:38930691-38930692	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs530197983	chr2:38930695-38930696	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs376152632	chr2:38930698-38930699	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs567077816	chr2:38930761-38930762	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38894400-38960600	Weak transcription	Brain Substantia Nigra	brain
2	chr2:38894800-38949400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:38904800-38936000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:38905000-38935800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:38905000-38947600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:38909200-38947800	Weak transcription	Right Ventricle	heart
7	chr2:38909400-38960600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:38909600-38947800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:38909800-38938600	Weak transcription	Fetal Kidney	kidney
10	chr2:38910000-38948000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:38912600-38932000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:38913800-38938800	Weak transcription	Fetal Brain Male	brain
13	chr2:38914400-38930000	Weak transcription	Left Ventricle	heart
14	chr2:38914600-38935600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:38914600-38938600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:38914600-38948000	Weak transcription	Spleen	Spleen
17	chr2:38915800-38947200	Weak transcription	Ovary	ovary
18	chr2:38916600-38932600	Weak transcription	Lung	lung
19	chr2:38916800-38938800	Weak transcription	Fetal Lung	lung
20	chr2:38917200-38936400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:38918000-38949400	Weak transcription	Primary B cells from cord blood	blood
22	chr2:38918600-38929600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:38918600-38947600	Weak transcription	Hela-S3	cervix
24	chr2:38918600-38956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:38918800-38929600	Weak transcription	HSMM	muscle
26	chr2:38918800-38937200	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:38920200-38942600	Weak transcription	Aorta	Aorta
28	chr2:38920400-38947800	Weak transcription	Esophagus	oesophagus
29	chr2:38920600-38934000	Weak transcription	Thymus	Thymus
30	chr2:38921000-38931800	Weak transcription	A549	lung
31	chr2:38921400-38931400	Weak transcription	Pancreas	Pancrea
32	chr2:38921400-38947400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:38921600-38935800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:38921600-38938800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:38921600-38942800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:38924400-38936800	Weak transcription	Fetal Stomach	stomach
37	chr2:38924800-38936400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:38925000-38932400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:38925000-38932800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:38925800-38931200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:38926000-38931400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:38927400-38947600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:38927600-38929600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:38927600-38930800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:38927600-38932000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:38927600-38957000	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:38927800-38930000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:38928000-38930000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:38928000-38931000	Enhancers	NHDF-Ad	bronchial
50	chr2:38928000-38932600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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