Variant report

Variant	esv2550406
Chromosome Location	chr1:193057723-193059259
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193056542..193059749-chr1:193072795..193074654,3	MCF-7	breast:
2	chr1:193052100..193054101-chr1:193055616..193057819,2	K562	blood:
3	chr1:193058724..193061368-chr1:193089881..193091482,2	MCF-7	breast:
4	chr1:193025729..193028290-chr1:193056532..193059117,3	K562	blood:
5	chr1:193051806..193058060-chr1:193058254..193062557,7	K562	blood:
6	chr1:193057980..193059695-chr1:193063116..193065702,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134371	chromatin interactions
ENSG00000272579	chromatin interactions
ENSG00000023572	chromatin interactions
ENSG00000238754	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150513857	chr1:193057725-193057726	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs78260865	chr1:193057726-193057727	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs192036088	chr1:193057749-193057750	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs183476795	chr1:193057788-193057789	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs565639414	chr1:193057794-193057795	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs571142614	chr1:193057820-193057821	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs538672282	chr1:193057832-193057833	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs139969905	chr1:193057852-193057853	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs374956159	chr1:193057872-193057873	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs201686506	chr1:193057880-193057881	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs10737620	chr1:193057971-193057972	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546114918	chr1:193057986-193057987	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs556424651	chr1:193057989-193057990	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs576641020	chr1:193057991-193057992	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs541881073	chr1:193058010-193058011	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs536354029	chr1:193058095-193058096	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs12083536	chr1:193058120-193058121	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs187543574	chr1:193058145-193058146	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs554776218	chr1:193058166-193058167	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs12097567	chr1:193058175-193058176	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs145144888	chr1:193058234-193058235	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs372417456	chr1:193058235-193058236	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372621322	chr1:193058288-193058289	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs74130916	chr1:193058339-193058340	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576319516	chr1:193058377-193058378	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs375862165	chr1:193058495-193058496	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs539652008	chr1:193058529-193058530	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs147929328	chr1:193058564-193058565	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs192314492	chr1:193058565-193058566	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs565212317	chr1:193058611-193058612	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs34587894	chr1:193058764-193058765	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs141792999	chr1:193058840-193058841	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs184155102	chr1:193058907-193058908	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs200281630	chr1:193058932-193058933	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs374979903	chr1:193058937-193058938	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs529137296	chr1:193058938-193058939	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs548708527	chr1:193058991-193058992	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs565658762	chr1:193058996-193058997	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs187267137	chr1:193058999-193059000	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs145562827	chr1:193059034-193059035	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs570744729	chr1:193059045-193059046	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs527734548	chr1:193059084-193059085	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs549089503	chr1:193059085-193059086	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs556311778	chr1:193059136-193059137	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576667496	chr1:193059144-193059145	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs55710665	chr1:193059148-193059149	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555519426	chr1:193059161-193059162	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs192660103	chr1:193059169-193059170	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs536981384	chr1:193059180-193059181	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377314280	chr1:193059193-193059194	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193033200-193067600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:193044800-193061200	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:193045200-193070200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:193046800-193070400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:193047000-193059000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:193047000-193062600	Weak transcription	Small Intestine	intestine
7	chr1:193047000-193066000	Weak transcription	Right Ventricle	heart
8	chr1:193047400-193071400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:193047600-193059200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:193048200-193072600	Weak transcription	Stomach Mucosa	stomach
11	chr1:193048600-193073000	Weak transcription	Fetal Brain Male	brain
12	chr1:193048800-193070000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:193050000-193061600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:193050800-193072600	Weak transcription	Fetal Heart	heart
15	chr1:193051400-193066400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:193052200-193066600	Weak transcription	Gastric	stomach
17	chr1:193052200-193067200	Weak transcription	Pancreas	Pancrea
18	chr1:193052800-193066600	Weak transcription	Brain Angular Gyrus	brain
19	chr1:193052800-193068400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:193052800-193068600	Weak transcription	Fetal Kidney	kidney
21	chr1:193052800-193072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:193053000-193062600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:193053000-193063000	Weak transcription	HSMMtube	muscle
24	chr1:193053000-193063200	Weak transcription	Fetal Intestine Small	intestine
25	chr1:193053000-193063200	Weak transcription	Fetal Stomach	stomach
26	chr1:193053000-193067200	Weak transcription	Lung	lung
27	chr1:193053000-193067400	Weak transcription	NHEK	skin
28	chr1:193053000-193068600	Weak transcription	Spleen	Spleen
29	chr1:193053000-193069000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:193053000-193072200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:193053000-193073200	Weak transcription	Esophagus	oesophagus
32	chr1:193053200-193063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:193053200-193063200	Weak transcription	Aorta	Aorta
34	chr1:193053200-193066400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:193053400-193072000	Weak transcription	Psoas Muscle	Psoas
36	chr1:193053600-193063400	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:193053600-193072600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:193053800-193061800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:193053800-193063200	Weak transcription	Primary T cells from cord blood	blood
40	chr1:193054000-193061800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:193054000-193061800	Weak transcription	Left Ventricle	heart
42	chr1:193054000-193063200	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:193054000-193063600	Weak transcription	Fetal Brain Female	brain
44	chr1:193054000-193065600	Weak transcription	HepG2	liver
45	chr1:193054000-193068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:193054000-193068600	Weak transcription	Thymus	Thymus
47	chr1:193054200-193059200	Weak transcription	A549	lung
48	chr1:193054200-193062000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:193054200-193062200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:193054200-193063000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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