Variant report

Variant	esv3444616
Chromosome Location	chr1:62175256-62175511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:62174652-62175699	K562	blood:	n/a	n/a
2	CEBPB	chr1:62175151-62175586	K562	blood:	n/a	chr1:62175399-62175410 chr1:62175401-62175410 chr1:62175401-62175412 chr1:62175471-62175484
3	CEBPB	chr1:62175218-62175577	IMR90	lung:	n/a	chr1:62175399-62175410 chr1:62175401-62175410 chr1:62175401-62175412 chr1:62175471-62175484
4	CEBPB	chr1:62175283-62175479	MCF-7	breast:	n/a	chr1:62175399-62175410 chr1:62175401-62175410 chr1:62175401-62175412
5	CEBPB	chr1:62175249-62175768	A549	lung:	n/a	chr1:62175399-62175410 chr1:62175401-62175410 chr1:62175401-62175412 chr1:62175632-62175645 chr1:62175471-62175484
6	CEBPB	chr1:62175236-62175577	HepG2	liver:	n/a	chr1:62175399-62175410 chr1:62175401-62175410 chr1:62175401-62175412 chr1:62175471-62175484
7	CEBPB	chr1:62175241-62175566	Hela-S3	cervix:	n/a	chr1:62175399-62175410 chr1:62175401-62175410 chr1:62175401-62175412 chr1:62175471-62175484
8	CEBPB	chr1:62174921-62175603	K562	blood:	n/a	chr1:62175399-62175410 chr1:62175401-62175410 chr1:62175401-62175412 chr1:62175471-62175484
9	CUX1	chr1:62174620-62175475	K562	blood:	n/a	n/a
10	E2F4	chr1:62175471-62175561	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr1:62174631-62175472	K562	blood:	n/a	chr1:62175219-62175226 chr1:62175400-62175414
12	GATA1	chr1:62174585-62175558	K562	blood:	n/a	n/a
13	JUND	chr1:62174591-62175400	K562	blood:	n/a	n/a
14	MAFF	chr1:62175424-62175525	K562	blood:	n/a	n/a
15	MAFK	chr1:62174640-62175409	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:62172803..62176394-chr1:62188013..62191041,5	K562	blood:
2	chr1:62173080..62176930-chr1:62205875..62209587,4	MCF-7	breast:
3	chr1:62173473..62177807-chr1:62188633..62191997,6	K562	blood:

Variant related genes	Relation type
TM2D1	TF binding region
ENSG00000162604	chromatin interactions
ENSG00000271200	chromatin interactions
ENSG00000132849	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111731682	chr1:62175260-62175261	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs557993664	chr1:62175320-62175321	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs1151770	chr1:62175340-62175341	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs533781814	chr1:62175352-62175353	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs377496404	chr1:62175372-62175373	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs573765129	chr1:62175419-62175420	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs182318355	chr1:62175445-62175446	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs187621025	chr1:62175463-62175464	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs192598012	chr1:62175470-62175471	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62138800-62189600	Weak transcription	Psoas Muscle	Psoas
2	chr1:62140000-62189000	Weak transcription	NHLF	lung
3	chr1:62142800-62188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:62146200-62190200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:62158600-62189800	Weak transcription	Pancreas	Pancrea
6	chr1:62161200-62180600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:62161800-62179200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:62162600-62177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:62163400-62181800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:62165000-62175800	Weak transcription	Right Atrium	heart
11	chr1:62165000-62189800	Weak transcription	Aorta	Aorta
12	chr1:62165400-62189400	Weak transcription	Fetal Brain Male	brain
13	chr1:62165400-62189600	Weak transcription	Right Ventricle	heart
14	chr1:62165400-62189800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:62166400-62176600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:62166400-62176600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:62166400-62189400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:62166600-62187400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:62166600-62189400	Weak transcription	A549	lung
20	chr1:62166800-62178000	Weak transcription	Brain Angular Gyrus	brain
21	chr1:62166800-62189400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:62167600-62177200	Weak transcription	Brain Substantia Nigra	brain
23	chr1:62168400-62177600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:62169000-62176000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr1:62169600-62175400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:62169600-62175400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:62169600-62177400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:62169600-62179400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:62169600-62179600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr1:62169600-62181200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:62169800-62175400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:62169800-62175400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:62169800-62175400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:62169800-62175800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr1:62169800-62176000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:62170000-62175600	Strong transcription	Fetal Thymus	thymus
37	chr1:62170000-62175800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:62170000-62175800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr1:62170000-62179200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr1:62170200-62175800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:62170400-62175400	Strong transcription	Fetal Lung	lung
42	chr1:62170400-62175800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:62170400-62176000	Strong transcription	Primary T cells from cord blood	blood
44	chr1:62170600-62175800	Strong transcription	NHDF-Ad	bronchial
45	chr1:62170600-62176000	Strong transcription	Dnd41	blood
46	chr1:62170600-62176200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:62171000-62175600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:62171200-62175400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:62171600-62188400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:62172000-62189400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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