Variant report

Variant	esv3388160
Chromosome Location	chr1:179293895-179294350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179279593..179281355-chr1:179292401..179294402,2	K562	blood:
2	chr1:179288088..179290753-chr1:179291190..179293971,2	K562	blood:
3	chr1:179279773..179281355-chr1:179292902..179294753,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 87 )

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	rs72344829	chr1:179293908-179293909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528584337	chr1:179293917-179293918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541598861	chr1:179293918-179293919	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138281309	chr1:179293934-179293935	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199862684	chr1:179293935-179293936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552962146	chr1:179293937-179293938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199553299	chr1:179293955-179293956	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200498023	chr1:179293957-179293958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150229691	chr1:179293993-179293994	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61824365	chr1:179294023-179294024	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550901557	chr1:179294047-179294048	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145100465	chr1:179294142-179294143	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35352402	chr1:179294143-179294144	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375618173	chr1:179294144-179294145	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546562133	chr1:179294159-179294160	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143240928	chr1:179294171-179294172	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147506011	chr1:179294186-179294187	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182227035	chr1:179294193-179294194	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539058387	chr1:179294211-179294212	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10913722	chr1:179294231-179294232	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535572490	chr1:179294240-179294241	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555185849	chr1:179294242-179294243	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568717673	chr1:179294243-179294244	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537250242	chr1:179294248-179294249	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35938597	chr1:179294282-179294283	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557590871	chr1:179294311-179294312	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577483379	chr1:179294316-179294317	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111451012	chr1:179294319-179294320	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368175507	chr1:179294323-179294324	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566874358	chr1:179294345-179294346	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552976035	chr1:179294346-179294347	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
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
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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179263800-179304600	Weak transcription	Lung	lung
2	chr1:179263800-179306400	Weak transcription	Gastric	stomach
3	chr1:179264600-179304600	Weak transcription	Right Ventricle	heart
4	chr1:179264600-179310200	Weak transcription	Brain Substantia Nigra	brain
5	chr1:179264600-179314000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:179264600-179314000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:179264800-179313800	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:179264800-179313800	Weak transcription	Fetal Brain Female	brain
9	chr1:179264800-179334200	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:179266400-179322800	Weak transcription	Small Intestine	intestine
11	chr1:179268400-179312000	Weak transcription	Fetal Thymus	thymus
12	chr1:179272600-179313800	Weak transcription	Brain Anterior Caudate	brain
13	chr1:179273000-179311600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:179273200-179294600	Weak transcription	Placenta	Placenta
15	chr1:179274600-179302400	Weak transcription	Left Ventricle	heart
16	chr1:179274600-179304400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:179274600-179306000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:179275600-179311600	Weak transcription	HUVEC	blood vessel
19	chr1:179276400-179306200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:179276600-179304800	Weak transcription	Pancreas	Pancrea
21	chr1:179276800-179295200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:179277600-179296400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:179280400-179296200	Weak transcription	NH-A	brain
24	chr1:179280400-179314000	Weak transcription	NHLF	lung
25	chr1:179280600-179299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:179281200-179300200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:179282000-179313000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:179282200-179295200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:179282400-179304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:179282400-179313800	Weak transcription	HSMMtube	muscle
31	chr1:179283200-179298800	Weak transcription	HepG2	liver
32	chr1:179283200-179308600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:179286400-179313800	Weak transcription	Psoas Muscle	Psoas
34	chr1:179287200-179294800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:179287200-179297200	Weak transcription	Spleen	Spleen
36	chr1:179287400-179304400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:179287600-179299000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:179289000-179299200	Weak transcription	Fetal Stomach	stomach
39	chr1:179290000-179297800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:179290200-179297800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr1:179290200-179297800	Weak transcription	Fetal Intestine Small	intestine
42	chr1:179290200-179300000	Strong transcription	Primary T cells from cord blood	blood
43	chr1:179290200-179300200	Strong transcription	Hela-S3	cervix
44	chr1:179290400-179294000	Strong transcription	Dnd41	blood
45	chr1:179290400-179310000	Weak transcription	Aorta	Aorta
46	chr1:179290600-179298200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:179290600-179298600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:179290600-179304200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:179290600-179308800	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:179290800-179298600	Weak transcription	A549	lung

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