Variant report

Variant	esv3457026
Chromosome Location	chr2:100103641-100105099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100019850..100022413-chr2:100104870..100107869,3	MCF-7	breast:
2	chr2:100103127..100105220-chr2:100105235..100107072,2	MCF-7	breast:
3	chr2:100011720..100013891-chr2:100102274..100104165,2	K562	blood:
4	chr2:99796371..99799059-chr2:100100777..100103682,2	MCF-7	breast:
5	chr2:100064922..100067755-chr2:100103657..100105818,3	MCF-7	breast:
6	chr2:100104533..100107300-chr2:100936927..100940750,3	MCF-7	breast:
7	chr2:99950963..99955972-chr2:100104881..100108306,7	MCF-7	breast:
8	chr2:100045644..100048567-chr2:100103283..100105124,2	K562	blood:
9	chr2:99796217..99798600-chr2:100104908..100107681,3	K562	blood:
10	chr2:99952384..99954745-chr2:100101155..100103970,2	K562	blood:
11	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
12	chr2:100099713..100102517-chr2:100102817..100104971,3	MCF-7	breast:
13	chr2:100075556..100080404-chr2:100103648..100108163,7	K562	blood:
14	chr2:100104879..100106389-chr2:100120710..100122893,2	MCF-7	breast:
15	chr2:100091970..100094649-chr2:100104238..100106048,2	MCF-7	breast:
16	chr2:99951256..99955616-chr2:100104663..100107649,9	K562	blood:
17	chr2:99950324..99955285-chr2:100104603..100108030,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185414	chromatin interactions
ENSG00000158417	chromatin interactions
ENSG00000115514	chromatin interactions
ENSG00000158411	chromatin interactions
ENSG00000241962	chromatin interactions
ENSG00000273306	chromatin interactions
ENSG00000135945	chromatin interactions
ENSG00000170500	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553909018	chr2:100103643-100103644	Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs572489853	chr2:100103660-100103661	Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs377674533	chr2:100103713-100103714	Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs577262791	chr2:100103776-100103777	Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs545899891	chr2:100103781-100103782	Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs139361076	chr2:100103804-100103805	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs556625814	chr2:100103981-100103982	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs576180712	chr2:100103989-100103990	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs181849723	chr2:100104097-100104098	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs566094023	chr2:100104100-100104101	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562010461	chr2:100104152-100104153	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs143165153	chr2:100104158-100104159	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs541000628	chr2:100104184-100104185	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563972955	chr2:100104237-100104238	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186968586	chr2:100104266-100104267	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115525963	chr2:100104370-100104371	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370328392	chr2:100104459-100104460	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs563378234	chr2:100104558-100104559	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs147516707	chr2:100104613-100104614	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs80215199	chr2:100104694-100104695	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs565955824	chr2:100104701-100104702	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs528419164	chr2:100104702-100104703	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs547759028	chr2:100104723-100104724	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs570714798	chr2:100104737-100104738	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs374710192	chr2:100104754-100104755	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs202217893	chr2:100104779-100104780	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs539822720	chr2:100104799-100104800	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs556354090	chr2:100104825-100104826	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs569830335	chr2:100105026-100105027	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs543278811	chr2:100105041-100105042	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs561999382	chr2:100105083-100105084	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs535638136	chr2:100105099-100105100	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD

Chromatin state (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100076200-100105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:100076600-100104200	Weak transcription	NHLF	lung
3	chr2:100078800-100105000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:100079200-100104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:100088000-100104800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:100092600-100104200	Weak transcription	Osteobl	bone
7	chr2:100092800-100104600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:100092800-100105000	Weak transcription	Placenta	Placenta
9	chr2:100094800-100104800	Weak transcription	Colonic Mucosa	Colon
10	chr2:100097200-100104000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:100097200-100104200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:100097200-100105000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:100098600-100105200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:100098600-100105200	Weak transcription	Gastric	stomach
15	chr2:100098800-100104800	Weak transcription	Spleen	Spleen
16	chr2:100098800-100105000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:100098800-100105200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:100099000-100103800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:100099000-100105000	Weak transcription	Pancreas	Pancrea
20	chr2:100099800-100103800	Enhancers	Fetal Heart	heart
21	chr2:100100200-100103800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:100100800-100105000	Weak transcription	Esophagus	oesophagus
23	chr2:100101000-100103800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:100101000-100105000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:100101200-100105000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr2:100101600-100105000	Weak transcription	Brain Angular Gyrus	brain
27	chr2:100101800-100104200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr2:100102000-100103800	Enhancers	Left Ventricle	heart
29	chr2:100102200-100103800	Enhancers	Fetal Thymus	thymus
30	chr2:100102200-100104200	Weak transcription	Fetal Lung	lung
31	chr2:100102200-100105000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:100102400-100103800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:100102400-100103800	Enhancers	Ovary	ovary
34	chr2:100102400-100104000	Weak transcription	Fetal Brain Male	brain
35	chr2:100102400-100104200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:100102400-100104200	Active TSS	GM12878-XiMat	blood
37	chr2:100102400-100104800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:100102400-100105000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:100102400-100105000	Enhancers	Colon Smooth Muscle	Colon
40	chr2:100102600-100105000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:100102600-100105000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:100102600-100105000	Weak transcription	Lung	lung
43	chr2:100102800-100104800	Enhancers	Liver	Liver
44	chr2:100103000-100103800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:100103000-100103800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:100103000-100103800	Enhancers	Primary B cells from cord blood	blood
47	chr2:100103000-100103800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr2:100103000-100103800	Flanking Active TSS	Hela-S3	cervix
49	chr2:100103000-100103800	Flanking Active TSS	NHEK	skin
50	chr2:100103000-100104000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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