Variant report

Variant	esv1797905
Chromosome Location	chr1:150811005-150813057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150811965-150812079	A549	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150800531..150803502-chr1:150811550..150815655,4	MCF-7	breast:
2	chr1:150809240..150812046-chr1:150847558..150849215,2	MCF-7	breast:
3	chr1:150807087..150808986-chr1:150811625..150814317,2	MCF-7	breast:
4	chr1:150803501..150805260-chr1:150810074..150811870,2	K562	blood:
5	chr1:150808768..150811697-chr1:150895772..150898745,2	MCF-7	breast:
6	chr1:150788780..150790984-chr1:150810777..150813008,2	MCF-7	breast:
7	chr1:150803170..150805446-chr1:150810913..150813203,2	K562	blood:

No data

Variant related genes	Relation type
ARNT	TF binding region
ENSG00000143437	chromatin interactions
ENSG00000143379	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10305685	chr1:150811005-150811006	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs587605416	chr1:150811028-150811029	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs587644238	chr1:150811095-150811096	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs191191472	chr1:150811096-150811097	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371451848	chr1:150811130-150811131	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs587601319	chr1:150811189-150811190	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs587663355	chr1:150811194-150811195	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs141872596	chr1:150811204-150811205	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs10305684	chr1:150811255-150811256	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184110696	chr1:150811272-150811273	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs138036180	chr1:150811311-150811312	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs10305683	chr1:150811340-150811341	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs587680223	chr1:150811404-150811405	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs10305682	chr1:150811438-150811439	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116880150	chr1:150811446-150811447	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs587723702	chr1:150811453-150811454	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372124461	chr1:150811558-150811559	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs79789483	chr1:150811559-150811560	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs74777809	chr1:150811634-150811635	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs587683120	chr1:150811635-150811636	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs587767314	chr1:150811659-150811660	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs150562299	chr1:150811662-150811663	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs187938786	chr1:150811684-150811685	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs587608175	chr1:150811697-150811698	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs1027699	chr1:150811712-150811713	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs35883279	chr1:150811777-150811778	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2256355	chr1:150811794-150811795	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs193199531	chr1:150811809-150811810	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs587672376	chr1:150811856-150811857	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185175101	chr1:150811875-150811876	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs587605786	chr1:150811888-150811889	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190071544	chr1:150811891-150811892	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs587602197	chr1:150811895-150811896	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375165387	chr1:150811902-150811903	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs115636467	chr1:150811935-150811936	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs139158737	chr1:150811949-150811950	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369482161	chr1:150811954-150811955	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116774603	chr1:150811958-150811959	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373016604	chr1:150811961-150811962	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs181961097	chr1:150812000-150812001	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs377056322	chr1:150812018-150812019	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs17855058	chr1:150812049-150812050	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs116545757	chr1:150812073-150812074	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs139539417	chr1:150812155-150812156	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs587686329	chr1:150812169-150812170	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs587762788	chr1:150812189-150812190	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs587652390	chr1:150812218-150812219	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs587687688	chr1:150812299-150812300	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs587765913	chr1:150812353-150812354	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184835935	chr1:150812360-150812361	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150782200-150813000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:150782400-150812200	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr1:150783200-150816600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:150783200-150816800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:150785800-150812400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:150788400-150812200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:150790800-150811400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:150792200-150814800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:150792600-150815400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:150792800-150812400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr1:150793000-150816400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:150793200-150823200	Strong transcription	Placenta	Placenta
13	chr1:150793600-150815800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:150793800-150813800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:150794000-150813600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:150794600-150812800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:150797000-150814400	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:150797400-150812400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:150797400-150813000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:150797400-150813400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:150797600-150812400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:150797600-150812400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr1:150797600-150812400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:150797600-150812600	Strong transcription	Adipose Nuclei	Adipose
25	chr1:150797600-150813400	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr1:150797600-150815600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:150797800-150811800	Strong transcription	Primary T cells from cord blood	blood
28	chr1:150797800-150812600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:150797800-150812600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:150797800-150812600	Strong transcription	Fetal Brain Female	brain
31	chr1:150798200-150815600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:150798400-150812400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:150799600-150816600	Strong transcription	HSMM	muscle
34	chr1:150799800-150817800	Strong transcription	Primary B cells from cord blood	blood
35	chr1:150801600-150811800	Weak transcription	Gastric	stomach
36	chr1:150801800-150811800	Weak transcription	Right Ventricle	heart
37	chr1:150801800-150814800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:150801800-150818600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:150801800-150824600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:150802800-150815200	Strong transcription	Fetal Lung	lung
41	chr1:150803200-150813200	Strong transcription	Colon Smooth Muscle	Colon
42	chr1:150803400-150812200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:150803600-150812000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:150804000-150812600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:150805800-150824600	Weak transcription	HMEC	breast
46	chr1:150806600-150812200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:150806600-150812200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:150806600-150812400	Strong transcription	Osteobl	bone
49	chr1:150806800-150812200	Strong transcription	Brain Angular Gyrus	brain
50	chr1:150807200-150814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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