Variant report

Variant	nsv963777
Chromosome Location	chr2:231378518-231384691
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	CTCF	chr2:231378755-231378845	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chr2:231379871-231379913	Kidney_OC	kidney:	n/a	n/a
3	FOXA2	chr2:231377710-231378551	HepG2	liver:	n/a	n/a
4	GATA3	chr2:231377851-231378552	MCF-7	breast:	n/a	n/a
5	GATA3	chr2:231381750-231381931	SH-SY5Y	brain:	n/a	n/a
6	MAFF	chr2:231380299-231380402	HepG2	liver:	n/a	n/a
7	MAFK	chr2:231380222-231380422	HepG2	liver:	n/a	n/a
8	MAFK	chr2:231378811-231378834	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:231380622-231380729	K562	blood:	n/a	n/a
10	POLR2A	chr2:231382415-231382539	K562	blood:	n/a	n/a
11	POLR2A	chr2:231379802-231380320	K562	blood:	n/a	n/a
12	POLR2A	chr2:231378385-231379599	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231367823..231370379-chr2:231381226..231383720,2	MCF-7	breast:

Variant related genes	Relation type
HMGB1P3	TF binding region
ENSG00000067066	chromatin interactions

Extended variants
information (count: 240 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75253493	chr2:231378520-231378521	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs561348183	chr2:231378565-231378566	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs73097020	chr2:231378582-231378583	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547034662	chr2:231378589-231378590	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555022261	chr2:231378600-231378601	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs375066031	chr2:231378604-231378605	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs571590081	chr2:231378622-231378623	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs192629137	chr2:231378625-231378626	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs73097022	chr2:231378679-231378680	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569392543	chr2:231378703-231378704	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs79084486	chr2:231378740-231378741	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs79582579	chr2:231378741-231378742	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs77519083	chr2:231378742-231378743	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs536832353	chr2:231378821-231378822	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs184233540	chr2:231378830-231378831	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs190778044	chr2:231378868-231378869	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs574694224	chr2:231378875-231378876	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs558130156	chr2:231378919-231378920	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs544538691	chr2:231378972-231378973	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs76448260	chr2:231378982-231378983	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs73998849	chr2:231378984-231378985	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs527907398	chr2:231379078-231379079	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs398042994	chr2:231379085-231379086	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs560613372	chr2:231379163-231379164	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs574576146	chr2:231379204-231379205	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs35189694	chr2:231379206-231379207	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs542031971	chr2:231379216-231379217	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs560357966	chr2:231379242-231379243	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs528621255	chr2:231379260-231379261	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs181902058	chr2:231379263-231379264	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs565145671	chr2:231379357-231379358	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs532787082	chr2:231379439-231379440	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs545965723	chr2:231379440-231379441	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs533303242	chr2:231379464-231379465	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs546800732	chr2:231379469-231379470	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs566843639	chr2:231379493-231379494	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs57002090	chr2:231379517-231379518	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs13009809	chr2:231379518-231379519	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548395085	chr2:231379521-231379522	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs531322301	chr2:231379525-231379526	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs549088023	chr2:231379536-231379537	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs538406724	chr2:231379552-231379553	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs73097024	chr2:231379615-231379616	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs141014105	chr2:231379616-231379617	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558608935	chr2:231379617-231379618	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569271705	chr2:231379640-231379641	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76319514	chr2:231379659-231379660	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547854718	chr2:231379704-231379705	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186279730	chr2:231379712-231379713	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73097026	chr2:231379727-231379728	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231355200-231380400	Strong transcription	Adipose Nuclei	Adipose
2	chr2:231355600-231378600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:231355800-231381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:231359600-231380400	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:231361800-231381400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:231362200-231378600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:231362400-231378600	Strong transcription	Primary T cells from cord blood	blood
8	chr2:231362600-231378600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:231362600-231380600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:231363800-231380200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:231364200-231381000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:231364600-231385800	Weak transcription	HSMMtube	muscle
13	chr2:231366600-231385200	Weak transcription	HMEC	breast
14	chr2:231366800-231379800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:231367000-231378600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:231370800-231389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:231371000-231409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:231371200-231384600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:231372000-231384600	Weak transcription	Placenta	Placenta
20	chr2:231372400-231379200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:231372400-231386200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:231372600-231379200	Weak transcription	NHLF	lung
23	chr2:231374600-231378600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:231374800-231380200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:231375000-231385600	Weak transcription	HSMM	muscle
26	chr2:231375200-231378600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:231375200-231390200	Weak transcription	Ovary	ovary
28	chr2:231376200-231383400	Weak transcription	GM12878-XiMat	blood
29	chr2:231376400-231378600	Weak transcription	Fetal Stomach	stomach
30	chr2:231376400-231379600	Weak transcription	Thymus	Thymus
31	chr2:231376400-231380200	Weak transcription	Fetal Thymus	thymus
32	chr2:231376400-231381200	Strong transcription	Primary B cells from cord blood	blood
33	chr2:231376400-231381800	Weak transcription	NHEK	skin
34	chr2:231376600-231380000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:231376600-231381200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr2:231376600-231381200	Weak transcription	NHDF-Ad	bronchial
37	chr2:231376600-231383600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:231376600-231384000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:231376600-231384400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:231376600-231384600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:231376600-231384800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:231376600-231385000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:231376600-231385200	Weak transcription	Right Ventricle	heart
44	chr2:231376600-231385400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:231376600-231386000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:231376600-231390200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:231376600-231390400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:231376800-231378600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:231376800-231381800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:231377000-231385800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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