Variant report

Variant	nsv822797
Chromosome Location	chr1:59155367-59156102
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	POLR2A	chr1:59155623-59155635	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:59154836..59157699-chr1:59248547..59250761,2	MCF-7	breast:
2	chr1:59152225..59156137-chr1:59164048..59166851,4	MCF-7	breast:
3	chr1:59152149..59156069-chr1:59161646..59166160,4	K562	blood:
4	chr1:59155488..59157004-chr1:59164254..59165910,2	MCF-7	breast:

Variant related genes	Relation type
MYSM1	TF binding region
ENSG00000162601	chromatin interactions
ENSG00000177606	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546280325	chr1:59155375-59155376	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs185409556	chr1:59155404-59155405	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs146781882	chr1:59155422-59155423	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576331766	chr1:59155437-59155438	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542226437	chr1:59155440-59155441	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188711629	chr1:59155488-59155489	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs147963745	chr1:59155492-59155493	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs181714768	chr1:59155501-59155502	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs41287664	chr1:59155515-59155516	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186782198	chr1:59155566-59155567	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs7525967	chr1:59155613-59155614	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183941034	chr1:59155622-59155623	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376959856	chr1:59155624-59155625	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs534827746	chr1:59155650-59155651	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs2223698	chr1:59155683-59155684	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115688472	chr1:59155739-59155740	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs548946982	chr1:59155747-59155748	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373117178	chr1:59155763-59155764	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs546081743	chr1:59155828-59155829	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs565567163	chr1:59155838-59155839	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187318930	chr1:59155868-59155869	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs564273708	chr1:59155875-59155876	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs564576066	chr1:59155880-59155881	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371527682	chr1:59155886-59155887	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374696754	chr1:59155887-59155888	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs189776208	chr1:59155954-59155955	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371957963	chr1:59156019-59156020	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540061110	chr1:59156033-59156034	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs377102315	chr1:59156070-59156071	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs369694843	chr1:59156086-59156087	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs201886018	chr1:59156090-59156091	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Cancer	20164919	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59118200-59163400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:59119800-59162200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:59119800-59163200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:59121000-59161200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:59121400-59161000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:59121600-59161200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:59121600-59161200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:59122400-59159400	Weak transcription	Right Ventricle	heart
9	chr1:59123800-59161800	Strong transcription	Dnd41	blood
10	chr1:59124000-59156600	Weak transcription	Spleen	Spleen
11	chr1:59125000-59162200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:59125600-59161200	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr1:59129200-59161000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr1:59131200-59161000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:59131200-59161000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:59137200-59155400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:59139400-59156200	Weak transcription	Psoas Muscle	Psoas
18	chr1:59139600-59162800	Weak transcription	Fetal Brain Male	brain
19	chr1:59139800-59156200	Weak transcription	Lung	lung
20	chr1:59139800-59159000	Weak transcription	Small Intestine	intestine
21	chr1:59139800-59162000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:59140200-59158800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:59140400-59157800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:59141200-59156200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:59141200-59158800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:59141800-59158600	Weak transcription	NHLF	lung
27	chr1:59143600-59160600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:59144600-59161800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:59146600-59163200	Strong transcription	Osteobl	bone
30	chr1:59146800-59155800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:59147200-59156400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:59148000-59161000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:59148000-59164000	Weak transcription	A549	lung
34	chr1:59148200-59156000	Weak transcription	Brain Anterior Caudate	brain
35	chr1:59148200-59156200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:59148200-59157800	Weak transcription	Colonic Mucosa	Colon
37	chr1:59148200-59164400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:59149200-59156000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:59149200-59161000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:59149400-59156400	Weak transcription	Brain Germinal Matrix	brain
41	chr1:59149400-59160200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:59149800-59156400	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:59149800-59157800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:59149800-59158000	Weak transcription	Fetal Lung	lung
45	chr1:59149800-59160000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:59150000-59157000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:59150000-59158000	Weak transcription	Fetal Kidney	kidney
48	chr1:59151000-59163200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:59151200-59157800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:59151400-59155400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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