Variant report

Variant	esv3511545
Chromosome Location	chr1:85187067-85187518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85155152..85157036-chr1:85185986..85188079,2	MCF-7	breast:
2	chr1:78544669..78546952-chr1:85187355..85190224,2	K562	blood:
3	chr1:85150908..85155231-chr1:85184814..85188587,5	K562	blood:
4	chr1:85153949..85156028-chr1:85184332..85187190,2	K562	blood:

Variant related genes	Relation type
ENSG00000117155	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547590122	chr1:85187069-85187070	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529141641	chr1:85187075-85187076	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539164814	chr1:85187109-85187110	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555715611	chr1:85187129-85187130	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576019212	chr1:85187172-85187173	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567964372	chr1:85187211-85187212	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190502863	chr1:85187212-85187213	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2994431	chr1:85187266-85187267	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs541186036	chr1:85187281-85187282	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs6576722	chr1:85187294-85187295	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577384301	chr1:85187342-85187343	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546347992	chr1:85187459-85187460	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs139598437	chr1:85187474-85187475	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142566821	chr1:85187483-85187484	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140892659	chr1:85187511-85187512	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85181800-85190200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:85182000-85189600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:85184200-85190000	Enhancers	Fetal Intestine Large	intestine
4	chr1:85184400-85189000	Enhancers	Fetal Intestine Small	intestine
5	chr1:85184600-85187400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:85184600-85187400	Enhancers	Fetal Lung	lung
7	chr1:85184600-85187400	Enhancers	Fetal Muscle Leg	muscle
8	chr1:85184600-85187400	Enhancers	Fetal Stomach	stomach
9	chr1:85184600-85188000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:85184600-85188600	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:85184600-85188800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:85184800-85187600	Enhancers	Brain Germinal Matrix	brain
13	chr1:85184800-85187600	Enhancers	NHLF	lung
14	chr1:85185000-85187200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:85185200-85187400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:85185400-85187200	Enhancers	Fetal Thymus	thymus
17	chr1:85185400-85187600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:85185600-85187200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:85185600-85187400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:85185600-85188400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:85185800-85187200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:85185800-85187400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:85185800-85189800	Enhancers	NHDF-Ad	bronchial
24	chr1:85186000-85187400	Enhancers	NH-A	brain
25	chr1:85186000-85187600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:85186000-85187600	Enhancers	Colon Smooth Muscle	Colon
27	chr1:85186000-85189000	Enhancers	Liver	Liver
28	chr1:85186200-85187200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:85186200-85187400	Enhancers	Brain Hippocampus Middle	brain
30	chr1:85186200-85187400	Enhancers	Brain Substantia Nigra	brain
31	chr1:85186200-85187600	Enhancers	Primary T cells from cord blood	blood
32	chr1:85186200-85189800	Enhancers	Rectal Smooth Muscle	rectum
33	chr1:85186400-85187200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:85186400-85187200	Weak transcription	Thymus	Thymus
35	chr1:85186400-85187400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:85186400-85187400	Enhancers	Brain Angular Gyrus	brain
37	chr1:85186400-85187400	Enhancers	Brain Anterior Caudate	brain
38	chr1:85186400-85187400	Enhancers	Brain Cingulate Gyrus	brain
39	chr1:85186400-85187400	Enhancers	Fetal Kidney	kidney
40	chr1:85186400-85187400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr1:85186400-85188400	Weak transcription	Stomach Mucosa	stomach
42	chr1:85186400-85189000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:85186400-85189400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:85186600-85190600	Enhancers	HepG2	liver
45	chr1:85186800-85187200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr1:85186800-85187400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:85186800-85187400	Enhancers	HSMM	muscle
48	chr1:85186800-85187400	Enhancers	NHEK	skin
49	chr1:85186800-85187400	Enhancers	Osteobl	bone
50	chr1:85186800-85187600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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