Variant report

Variant	esv3452438
Chromosome Location	chr1:113529073-113532922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113498893..113503922-chr1:113525106..113529240,4	K562	blood:
2	chr1:113497031..113498756-chr1:113528559..113531199,2	K562	blood:
3	chr1:113511237..113513302-chr1:113530269..113532997,2	K562	blood:

Variant related genes	Relation type
ENSG00000155380	chromatin interactions
ENSG00000226419	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184831797	chr1:113529078-113529079	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs571531234	chr1:113529135-113529136	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs371644644	chr1:113529144-113529145	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs140771084	chr1:113529260-113529261	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557000119	chr1:113529271-113529272	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144823742	chr1:113529360-113529361	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190112428	chr1:113529369-113529370	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75457000	chr1:113529377-113529378	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572317582	chr1:113529430-113529431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541319129	chr1:113529472-113529473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111664627	chr1:113529499-113529500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564487582	chr1:113529507-113529508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs115748629	chr1:113529520-113529521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543488267	chr1:113529543-113529544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563718270	chr1:113529553-113529554	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148557126	chr1:113529554-113529555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549506902	chr1:113529596-113529597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370145283	chr1:113529644-113529645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528341627	chr1:113529673-113529674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs181879601	chr1:113529681-113529682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571482877	chr1:113529705-113529706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534833961	chr1:113529706-113529707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187385805	chr1:113529793-113529794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567259795	chr1:113529801-113529802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546826203	chr1:113529831-113529832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535928156	chr1:113529883-113529884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142992847	chr1:113529901-113529902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191072810	chr1:113529941-113529942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534916297	chr1:113529988-113529989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571458218	chr1:113529999-113530000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538961094	chr1:113530127-113530128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545678377	chr1:113530158-113530159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs72982435	chr1:113530262-113530263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370791000	chr1:113530265-113530266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs72982438	chr1:113530335-113530336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12727902	chr1:113530398-113530399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12741370	chr1:113530443-113530444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs181777231	chr1:113530481-113530482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185403215	chr1:113530503-113530504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555459057	chr1:113530562-113530563	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs56019044	chr1:113530578-113530579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs112331890	chr1:113530605-113530606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12138968	chr1:113530627-113530628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs559955477	chr1:113530633-113530634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528276605	chr1:113530647-113530648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551564804	chr1:113530654-113530655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs565108362	chr1:113530667-113530668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs34744095	chr1:113530680-113530681	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs117558870	chr1:113530737-113530738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550862688	chr1:113530800-113530801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113500600-113535400	Weak transcription	Aorta	Aorta
2	chr1:113510600-113537000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:113510800-113541800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:113511000-113531200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:113511200-113530000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:113511200-113538400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:113511200-113540000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:113511200-113540800	Weak transcription	HSMM	muscle
9	chr1:113511200-113545800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:113511200-113546400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:113511200-113558000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:113511200-113558600	Weak transcription	NHDF-Ad	bronchial
13	chr1:113511200-113564000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:113511800-113534000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:113511800-113540200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:113512200-113534000	Weak transcription	Fetal Stomach	stomach
17	chr1:113513600-113530800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:113513800-113536600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:113513800-113536800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:113513800-113541000	Weak transcription	Hela-S3	cervix
21	chr1:113514000-113541200	Weak transcription	K562	blood
22	chr1:113516800-113541000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:113517200-113540400	Weak transcription	HepG2	liver
24	chr1:113517800-113542800	Weak transcription	Dnd41	blood
25	chr1:113519600-113538600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:113524200-113529400	Enhancers	Fetal Heart	heart
27	chr1:113524400-113529400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:113526000-113530600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:113526400-113534000	Weak transcription	Stomach Mucosa	stomach
30	chr1:113526400-113535200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:113526400-113540200	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:113526400-113540600	Weak transcription	Primary T cells from cord blood	blood
33	chr1:113526400-113541600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:113526600-113564200	Weak transcription	Placenta	Placenta
35	chr1:113526800-113558600	Weak transcription	GM12878-XiMat	blood
36	chr1:113527000-113540600	Weak transcription	Primary B cells from cord blood	blood
37	chr1:113527600-113529400	Enhancers	Colon Smooth Muscle	Colon
38	chr1:113527800-113529400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:113528000-113529200	Strong transcription	NHEK	skin
40	chr1:113528200-113529600	Enhancers	Stomach Smooth Muscle	stomach
41	chr1:113528200-113537000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:113528200-113556600	Weak transcription	Small Intestine	intestine
43	chr1:113528400-113529400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:113528600-113529200	Enhancers	Left Ventricle	heart
45	chr1:113528600-113529200	Enhancers	Right Atrium	heart
46	chr1:113528600-113529400	Enhancers	Psoas Muscle	Psoas
47	chr1:113528600-113529400	Enhancers	Rectal Smooth Muscle	rectum
48	chr1:113528600-113529400	Enhancers	Right Ventricle	heart
49	chr1:113528800-113529200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:113528800-113529400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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