Variant report

Variant	esv3430471
Chromosome Location	chr1:227481579-227483577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227480336..227482044-chr1:227483405..227484935,2	K562	blood:
2	chr1:227477234..227482232-chr1:227484947..227488828,5	K562	blood:
3	chr1:227480336..227482044-chr1:227483405..227484935,2	K562	blood:
4	chr1:227480441..227495625-chr1:227496855..227507828,32	K562	blood:
5	chr1:227483357..227485572-chr1:227486057..227488627,3	K562	blood:
6	chr1:227482589..227485572-chr1:227485987..227487557,2	K562	blood:

Variant related genes	Relation type
ENSG00000143776	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114539591	chr1:227481581-227481582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs372981200	chr1:227481713-227481714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567947604	chr1:227481737-227481738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4406605	chr1:227481755-227481756	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4406606	chr1:227481763-227481764	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575142682	chr1:227481813-227481814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34440559	chr1:227481832-227481833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545491778	chr1:227481847-227481848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7513122	chr1:227481851-227481852	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs34040306	chr1:227481868-227481869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192987991	chr1:227481890-227481891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184162895	chr1:227481898-227481899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559973053	chr1:227481928-227481929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542941393	chr1:227481951-227481952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113375587	chr1:227481955-227481956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531512848	chr1:227481966-227481967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372428331	chr1:227481972-227481973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77109527	chr1:227481973-227481974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201107363	chr1:227482006-227482007	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs66475802	chr1:227482047-227482048	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73098374	chr1:227482057-227482058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78335960	chr1:227482058-227482059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552283655	chr1:227482137-227482138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs181322693	chr1:227482151-227482152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528352992	chr1:227482238-227482239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374833343	chr1:227482284-227482285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546517046	chr1:227482332-227482333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183675776	chr1:227482357-227482358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535305689	chr1:227482388-227482389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556977679	chr1:227482478-227482479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571367498	chr1:227482488-227482489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs367858770	chr1:227482510-227482511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527336297	chr1:227482515-227482516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557779285	chr1:227482538-227482539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547178040	chr1:227482555-227482556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs397983087	chr1:227482587-227482588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150517199	chr1:227482590-227482591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567247986	chr1:227482608-227482609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs116823981	chr1:227482642-227482643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189273907	chr1:227482660-227482661	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574944160	chr1:227482689-227482690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535887189	chr1:227482710-227482711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555627040	chr1:227482714-227482715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371819622	chr1:227482795-227482796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs74507464	chr1:227482806-227482807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10916118	chr1:227482867-227482868	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368084953	chr1:227482874-227482875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538171484	chr1:227482892-227482893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7516326	chr1:227482935-227482936	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs55859540	chr1:227482944-227482945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227431600-227486200	Weak transcription	NHDF-Ad	bronchial
2	chr1:227462600-227500200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:227467200-227485800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:227469200-227500200	Weak transcription	Left Ventricle	heart
5	chr1:227469200-227502600	Weak transcription	HSMM	muscle
6	chr1:227469600-227501800	Weak transcription	Fetal Stomach	stomach
7	chr1:227470600-227483000	Weak transcription	Stomach Mucosa	stomach
8	chr1:227470600-227485800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:227473800-227486200	Weak transcription	Aorta	Aorta
10	chr1:227474200-227486200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:227474600-227486000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:227474800-227485800	Weak transcription	HUVEC	blood vessel
13	chr1:227474800-227486200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:227474800-227486200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:227475000-227484200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:227475000-227486200	Weak transcription	HMEC	breast
17	chr1:227475000-227491800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:227475000-227502000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:227475200-227500200	Weak transcription	Fetal Intestine Small	intestine
20	chr1:227475800-227484800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:227475800-227485200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:227475800-227486400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:227476200-227486200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:227477000-227486200	Weak transcription	Brain Anterior Caudate	brain
25	chr1:227477200-227485000	Weak transcription	K562	blood
26	chr1:227478000-227491800	Weak transcription	Psoas Muscle	Psoas
27	chr1:227479600-227486200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:227481200-227486200	Weak transcription	Liver	Liver
29	chr1:227481800-227485200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:227482200-227483000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:227482800-227486200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:227483000-227483400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:227483000-227483600	Enhancers	Stomach Mucosa	stomach
34	chr1:227483200-227483800	Enhancers	Brain Angular Gyrus	brain
35	chr1:227483200-227483800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr1:227483200-227483800	Enhancers	Colon Smooth Muscle	Colon
37	chr1:227483400-227483600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:227483400-227483600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:227483400-227483600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:227483400-227483600	Enhancers	Esophagus	oesophagus
41	chr1:227483400-227483600	Enhancers	Right Atrium	heart
42	chr1:227483400-227483600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr1:227483400-227483800	Enhancers	Right Ventricle	heart
44	chr1:227483400-227484000	Enhancers	Fetal Heart	heart

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