Variant report

Variant	nsv10103
Chromosome Location	chr2:98218802-98243664
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98243278..98243852-chr2:98313428..98314134,2	MCF-7	breast:
2	chr2:98242376..98244442-chr2:98262339..98264310,2	K562	blood:
3	chr2:98236811..98238337-chr2:98279045..98280683,2	K562	blood:

Variant related genes	Relation type
ENSG00000115073	chromatin interactions
ENSG00000135940	chromatin interactions
ENSG00000228486	chromatin interactions

Extended variants
information (count: 490 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561847001	chr2:98218853-98218854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527863712	chr2:98218872-98218873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547977555	chr2:98218892-98218893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571080663	chr2:98218948-98218949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533622484	chr2:98218949-98218950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550508689	chr2:98218963-98218964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569941311	chr2:98218968-98218969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191150228	chr2:98218979-98218980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555558196	chr2:98218996-98218997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566201079	chr2:98219130-98219131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534811714	chr2:98219171-98219172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553503358	chr2:98219263-98219264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368032913	chr2:98219605-98219606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576636317	chr2:98219639-98219640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111919384	chr2:98219662-98219663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539338148	chr2:98219836-98219837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556465979	chr2:98219870-98219871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545691134	chr2:98219896-98219897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563890306	chr2:98219897-98219898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541841487	chr2:98219898-98219899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375914967	chr2:98219938-98219939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561543547	chr2:98219992-98219993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576250966	chr2:98221263-98221264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200227431	chr2:98221295-98221296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535408371	chr2:98221299-98221300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555299384	chr2:98221349-98221350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181119090	chr2:98221358-98221359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113793096	chr2:98221380-98221381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201088080	chr2:98221428-98221429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199731876	chr2:98221442-98221443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541120945	chr2:98221529-98221530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370325796	chr2:98221531-98221532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561012289	chr2:98221539-98221540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186354387	chr2:98221555-98221556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374748543	chr2:98221598-98221599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564216514	chr2:98221702-98221703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs578202233	chr2:98221818-98221819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113708404	chr2:98221855-98221856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544029552	chr2:98221860-98221861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111305406	chr2:98221864-98221865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79602270	chr2:98221868-98221869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367636992	chr2:98221891-98221892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529542636	chr2:98221951-98221952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549420837	chr2:98221963-98221964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559689496	chr2:98221964-98221965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57152155	chr2:98221975-98221976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2595284	chr2:98222012-98222013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368506067	chr2:98222027-98222028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528512574	chr2:98222029-98222030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551436571	chr2:98222066-98222067	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98218600-98219200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr2:98218600-98220000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:98219200-98219800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:98219800-98220000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr2:98221200-98221800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:98221400-98222200	Enhancers	Brain Substantia Nigra	brain
7	chr2:98221800-98222200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:98222200-98223000	Weak transcription	Brain Substantia Nigra	brain
9	chr2:98223200-98223400	Enhancers	Brain Substantia Nigra	brain
10	chr2:98225200-98225400	Active TSS	Brain Hippocampus Middle	brain
11	chr2:98225400-98225600	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr2:98232800-98233400	Enhancers	Fetal Muscle Trunk	muscle
13	chr2:98233400-98240400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:98234400-98234600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:98234400-98234600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:98234600-98235400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:98234800-98235800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:98235400-98236200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:98235800-98236000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:98235800-98236400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:98236000-98236200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:98236000-98236200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:98236000-98236400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:98236000-98236400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:98236000-98236400	Enhancers	Hela-S3	cervix
26	chr2:98236000-98236400	Enhancers	K562	blood
27	chr2:98236200-98236400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:98236200-98240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:98240200-98240800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:98240400-98240600	Enhancers	Fetal Muscle Trunk	muscle
31	chr2:98240600-98243400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:98240800-98242400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:98242200-98242400	Enhancers	NHEK	skin
34	chr2:98242400-98242600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr2:98242400-98242600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:98242400-98242800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:98242400-98242800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:98242400-98243000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:98242400-98243000	Enhancers	Spleen	Spleen
40	chr2:98242400-98243000	Enhancers	Hela-S3	cervix
41	chr2:98243400-98244000	Enhancers	Brain Hippocampus Middle	brain
42	chr2:98243400-98244200	Enhancers	Brain Germinal Matrix	brain
43	chr2:98243400-98244200	Enhancers	Fetal Muscle Trunk	muscle

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