Variant report

Variant	esv1413001
Chromosome Location	chr1:213039238-213039407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213032682..213037696-chr1:213038069..213043473,6	K562	blood:
2	chr1:213032255..213037228-chr1:213037322..213040248,4	K562	blood:

Variant related genes	Relation type
ENSG00000162769	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9787016	chr1:213039239-213039240	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs61833692	chr1:213039250-213039251	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs61833693	chr1:213039251-213039252	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs61833694	chr1:213039252-213039253	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs61833695	chr1:213039253-213039254	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534753076	chr1:213039254-213039255	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs61833696	chr1:213039260-213039261	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs61833697	chr1:213039261-213039262	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs61833698	chr1:213039262-213039263	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs9787379	chr1:213039267-213039268	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201455816	chr1:213039297-213039298	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201933070	chr1:213039300-213039301	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142975532	chr1:213039301-213039302	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372286450	chr1:213039302-213039303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371532203	chr1:213039322-213039323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373887953	chr1:213039323-213039324	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs9787018	chr1:213039330-213039331	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs9787019	chr1:213039332-213039333	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs57560786	chr1:213039350-213039351	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs374671765	chr1:213039352-213039353	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs60899500	chr1:213039357-213039358	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs59712429	chr1:213039367-213039368	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs12027219	chr1:213039378-213039379	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs12119818	chr1:213039379-213039380	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs61833728	chr1:213039390-213039391	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs61833729	chr1:213039393-213039394	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs61833730	chr1:213039395-213039396	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213032600-213046400	Weak transcription	Ovary	ovary
2	chr1:213032600-213049200	Weak transcription	Right Atrium	heart
3	chr1:213032600-213073000	Weak transcription	Colonic Mucosa	Colon
4	chr1:213032600-213073000	Weak transcription	Esophagus	oesophagus
5	chr1:213032800-213046400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:213032800-213048000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:213032800-213056800	Weak transcription	Fetal Thymus	thymus
8	chr1:213032800-213057800	Weak transcription	Placenta	Placenta
9	chr1:213032800-213061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:213032800-213062000	Weak transcription	Psoas Muscle	Psoas
11	chr1:213033400-213046800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:213033400-213046800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:213033600-213046800	Weak transcription	Liver	Liver
14	chr1:213033600-213048600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:213033600-213062000	Weak transcription	Thymus	Thymus
16	chr1:213034400-213041200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:213034400-213044800	Weak transcription	HSMMtube	muscle
18	chr1:213034400-213046200	Weak transcription	Fetal Lung	lung
19	chr1:213034400-213046600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:213034400-213046600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:213034400-213048200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:213034400-213048400	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:213034400-213058000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:213034400-213068000	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:213034600-213039600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:213034600-213041400	Weak transcription	Fetal Stomach	stomach
27	chr1:213034600-213044200	Weak transcription	Aorta	Aorta
28	chr1:213034600-213044800	Weak transcription	Left Ventricle	heart
29	chr1:213034600-213044800	Weak transcription	Pancreas	Pancrea
30	chr1:213034600-213046000	Weak transcription	HMEC	breast
31	chr1:213034600-213046400	Weak transcription	Brain Anterior Caudate	brain
32	chr1:213034600-213046400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:213034600-213046600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:213034600-213046800	Weak transcription	Primary B cells from cord blood	blood
35	chr1:213034600-213046800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:213034600-213046800	Weak transcription	NHDF-Ad	bronchial
37	chr1:213034600-213047400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:213034600-213048000	Weak transcription	Spleen	Spleen
39	chr1:213034600-213048600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:213034600-213048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:213034600-213049200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:213034600-213049200	Weak transcription	Lung	lung
43	chr1:213034600-213049400	Weak transcription	Gastric	stomach
44	chr1:213034600-213056200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:213034600-213057000	Weak transcription	Brain Substantia Nigra	brain
46	chr1:213034600-213057000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:213034600-213057200	Weak transcription	Right Ventricle	heart
48	chr1:213034600-213061800	Weak transcription	Fetal Heart	heart
49	chr1:213034600-213067800	Weak transcription	NHLF	lung
50	chr1:213034600-213070600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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