Variant report

Variant	esv3390514
Chromosome Location	chr2:96728125-96732823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96730056..96731818-chr2:96841828..96843515,2	MCF-7	breast:
2	chr2:96729021..96729821-chr2:98313504..98314366,3	MCF-7	breast:
3	chr2:96731019..96733745-chr2:98305236..98308160,2	MCF-7	breast:
4	chr2:96729388..96731079-chr2:96873291..96874910,2	K562	blood:
5	chr2:96727840..96729450-chr2:98278823..98282139,3	MCF-7	breast:
6	chr2:96732634..96735497-chr2:98280475..98282545,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201806	chromatin interactions
ENSG00000115073	chromatin interactions
ENSG00000084090	chromatin interactions
ENSG00000228486	chromatin interactions
ENSG00000204685	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561755488	chr2:96728133-96728134	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs527644560	chr2:96728159-96728160	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs547507358	chr2:96728336-96728337	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs570901598	chr2:96728397-96728398	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs533392622	chr2:96728434-96728435	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs550337257	chr2:96728581-96728582	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs570298433	chr2:96728657-96728658	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs536156229	chr2:96728772-96728773	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs556057497	chr2:96728926-96728927	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs568080663	chr2:96728928-96728929	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs533744512	chr2:96728940-96728941	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs76741791	chr2:96728972-96728973	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs553616783	chr2:96729001-96729002	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs576856340	chr2:96729003-96729004	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs545720789	chr2:96729030-96729031	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs556322858	chr2:96729081-96729082	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs377445993	chr2:96729099-96729100	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs11681184	chr2:96729100-96729101	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs575786589	chr2:96729135-96729136	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs541736433	chr2:96729140-96729141	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs561619855	chr2:96729180-96729181	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs111370481	chr2:96729192-96729193	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs572134633	chr2:96729251-96729252	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs541008147	chr2:96729278-96729279	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs564459976	chr2:96729284-96729285	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs2969466	chr2:96729296-96729297	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs533461909	chr2:96729298-96729299	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs371170717	chr2:96729300-96729301	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs563539265	chr2:96729307-96729308	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs2969465	chr2:96729308-96729309	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549958502	chr2:96729342-96729343	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs563918544	chr2:96729383-96729384	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs375102069	chr2:96729490-96729491	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs74497652	chr2:96729491-96729492	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs2462771	chr2:96729582-96729583	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs529476896	chr2:96729591-96729592	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs549723469	chr2:96729595-96729596	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs566356780	chr2:96729598-96729599	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs533805928	chr2:96729622-96729623	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs547360948	chr2:96729639-96729640	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs4569520	chr2:96729673-96729674	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs370425385	chr2:96729728-96729729	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs539524534	chr2:96729756-96729757	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs370704022	chr2:96729762-96729763	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs555949767	chr2:96729765-96729766	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs575853778	chr2:96729766-96729767	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs535249062	chr2:96729789-96729790	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs555276110	chr2:96729808-96729809	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs571996558	chr2:96729826-96729827	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs541111495	chr2:96729827-96729828	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96726400-96729200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:96726400-96730800	Weak transcription	Spleen	Spleen
3	chr2:96726400-96731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:96726600-96729200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:96726600-96731000	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:96727200-96728400	Enhancers	Brain Angular Gyrus	brain
7	chr2:96727200-96730200	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:96727200-96730400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr2:96727400-96729000	Enhancers	HepG2	liver
10	chr2:96727400-96730000	Enhancers	Brain Hippocampus Middle	brain
11	chr2:96727400-96732800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:96727800-96728200	Enhancers	Brain Substantia Nigra	brain
13	chr2:96727800-96728600	Weak transcription	HSMM	muscle
14	chr2:96727800-96729600	Enhancers	HMEC	breast
15	chr2:96728000-96729000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:96728000-96729000	Weak transcription	A549	lung
17	chr2:96728000-96729200	Weak transcription	Brain Anterior Caudate	brain
18	chr2:96728000-96729200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:96728000-96729400	Weak transcription	HSMMtube	muscle
20	chr2:96728200-96733800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:96728400-96728800	Weak transcription	Brain Angular Gyrus	brain
22	chr2:96728600-96730200	Enhancers	HSMM	muscle
23	chr2:96728800-96729600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:96728800-96730200	Enhancers	Brain Angular Gyrus	brain
25	chr2:96729000-96729200	Active TSS	Hela-S3	cervix
26	chr2:96729000-96729400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:96729000-96729400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:96729000-96729400	Enhancers	A549	lung
29	chr2:96729000-96729400	Flanking Active TSS	HepG2	liver
30	chr2:96729000-96729600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:96729000-96730200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:96729200-96729400	Enhancers	GM12878-XiMat	blood
33	chr2:96729200-96729400	Flanking Active TSS	Hela-S3	cervix
34	chr2:96729200-96729400	Enhancers	NH-A	brain
35	chr2:96729200-96729600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:96729200-96729600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:96729200-96729600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:96729200-96729600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:96729200-96729600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr2:96729200-96729600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:96729200-96729600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr2:96729200-96729600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:96729200-96729600	Enhancers	Brain Anterior Caudate	brain
44	chr2:96729200-96729600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr2:96729200-96729600	Enhancers	NHEK	skin
46	chr2:96729200-96729600	Enhancers	NHLF	lung
47	chr2:96729200-96730200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:96729200-96730200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:96729200-96730200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:96729400-96729600	Enhancers	Primary T cells fromperipheralblood	blood

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