Variant report

Variant	esv3453880
Chromosome Location	chr1:174218725-174221815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174217947..174220664-chr1:174222845..174224894,3	K562	blood:
2	chr1:174215485..174217028-chr1:174218870..174220698,2	MCF-7	breast:
3	chr1:174208598..174210493-chr1:174218021..174220094,2	MCF-7	breast:

Extended variants
information (count: 126 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566411556	chr1:174218739-174218740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200732480	chr1:174218740-174218741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79736781	chr1:174218741-174218742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117208128	chr1:174218749-174218750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199661095	chr1:174218752-174218753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543540461	chr1:174218769-174218770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372511581	chr1:174218770-174218771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374941975	chr1:174218788-174218789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535121869	chr1:174218799-174218800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77257952	chr1:174218800-174218801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77757507	chr1:174218802-174218803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4652275	chr1:174218820-174218821	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs573541412	chr1:174218838-174218839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189323040	chr1:174218839-174218840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557422616	chr1:174218848-174218849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577461886	chr1:174218868-174218869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540017254	chr1:174218879-174218880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181982770	chr1:174218894-174218895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542510257	chr1:174218905-174218906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573850424	chr1:174218939-174218940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4650981	chr1:174218944-174218945	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs186774284	chr1:174218972-174218973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77482181	chr1:174219055-174219056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576349964	chr1:174219137-174219138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142514124	chr1:174219157-174219158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565354843	chr1:174219172-174219173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73036625	chr1:174219232-174219233	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547974062	chr1:174219243-174219244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116199706	chr1:174219298-174219299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530374068	chr1:174219348-174219349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145973594	chr1:174219394-174219395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16846809	chr1:174219398-174219399	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs75455821	chr1:174219481-174219482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537440621	chr1:174219537-174219538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551090503	chr1:174219539-174219540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570996260	chr1:174219555-174219556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138575440	chr1:174219581-174219582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553503400	chr1:174219637-174219638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148341321	chr1:174219650-174219651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147517172	chr1:174219651-174219652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377226119	chr1:174219653-174219654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201387814	chr1:174219694-174219695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368432186	chr1:174219698-174219699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556178498	chr1:174219699-174219700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142774633	chr1:174219702-174219703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371240194	chr1:174219703-174219704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7339904	chr1:174219724-174219725	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs143354894	chr1:174219725-174219726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146737785	chr1:174219738-174219739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375652492	chr1:174219740-174219741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Intellectual disability	22102821	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
Burkitt''s lymphoma	19759907	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174176000-174222400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:174176800-174222400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:174186800-174232000	Weak transcription	HSMMtube	muscle
4	chr1:174189000-174232000	Weak transcription	HSMM	muscle
5	chr1:174191400-174232000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:174191600-174232200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:174192000-174219400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:174192400-174224600	Weak transcription	Fetal Thymus	thymus
9	chr1:174200800-174249200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:174201000-174221800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:174201000-174249800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:174201200-174221400	Weak transcription	NHDF-Ad	bronchial
13	chr1:174202400-174221400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:174202400-174224800	Weak transcription	Fetal Intestine Large	intestine
15	chr1:174202400-174225400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:174202400-174229400	Weak transcription	Fetal Lung	lung
17	chr1:174202400-174232200	Weak transcription	Right Ventricle	heart
18	chr1:174202400-174256800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:174208400-174219800	Weak transcription	Esophagus	oesophagus
20	chr1:174208600-174249200	Weak transcription	Placenta	Placenta
21	chr1:174208800-174221800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:174208800-174222200	Weak transcription	NHEK	skin
23	chr1:174209600-174223200	Weak transcription	A549	lung
24	chr1:174209800-174221400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:174211200-174258200	Weak transcription	Dnd41	blood
26	chr1:174211600-174231600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:174212400-174227600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:174213800-174232200	Weak transcription	Aorta	Aorta
29	chr1:174213800-174249800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:174213800-174258600	Weak transcription	K562	blood
31	chr1:174214000-174225200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:174214000-174239200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:174214200-174220800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:174214200-174224800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:174214200-174249400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:174214200-174249800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:174214400-174221800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:174214400-174222200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:174214400-174222800	Weak transcription	Primary T cells from cord blood	blood
40	chr1:174214400-174225600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:174214400-174232000	Weak transcription	Lung	lung
42	chr1:174214400-174232000	Weak transcription	Ovary	ovary
43	chr1:174214400-174238000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:174214400-174249000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:174214400-174250000	Weak transcription	Adipose Nuclei	Adipose
46	chr1:174214400-174250600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:174214600-174222200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:174214600-174225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:174214600-174231600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:174214600-174232000	Weak transcription	Fetal Stomach	stomach

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