Variant report

Variant	esv3416722
Chromosome Location	chr1:225893429-225897527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225887018..225888543-chr1:225891831..225894059,2	K562	blood:

Variant related genes	Relation type
ENSG00000227496	chromatin interactions

Extended variants
information (count: 173 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533720701	chr1:225893434-225893435	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532021534	chr1:225893435-225893436	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs4354509	chr1:225893442-225893443	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550531625	chr1:225893443-225893444	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188023193	chr1:225893474-225893475	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369120205	chr1:225893489-225893490	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540553866	chr1:225893504-225893505	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547133175	chr1:225893506-225893507	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371248017	chr1:225893555-225893556	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565774270	chr1:225893557-225893558	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs150657756	chr1:225893563-225893564	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549430053	chr1:225893564-225893565	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560497758	chr1:225893574-225893575	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554568795	chr1:225893583-225893584	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575658210	chr1:225893596-225893597	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536930902	chr1:225893602-225893603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529325206	chr1:225893603-225893604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558463938	chr1:225893618-225893619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376244709	chr1:225893641-225893642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs138902615	chr1:225893651-225893652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4653426	chr1:225893662-225893663	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2615065	chr1:225893692-225893693	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs199799969	chr1:225893700-225893701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140296248	chr1:225893704-225893705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561320624	chr1:225893708-225893709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs531782835	chr1:225893713-225893714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550494475	chr1:225893749-225893750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565582862	chr1:225893759-225893760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532710654	chr1:225893771-225893772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs180931237	chr1:225893784-225893785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565607544	chr1:225893792-225893793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111359250	chr1:225893841-225893842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2615064	chr1:225893843-225893844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs3123777	chr1:225893846-225893847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529771914	chr1:225893856-225893857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2615063	chr1:225893878-225893879	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2615062	chr1:225893879-225893880	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536694036	chr1:225893906-225893907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558383722	chr1:225893937-225893938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144153474	chr1:225893958-225893959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534491664	chr1:225894027-225894028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12036321	chr1:225894059-225894060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574580307	chr1:225894069-225894070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376434750	chr1:225894146-225894147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534132591	chr1:225894165-225894166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555150788	chr1:225894201-225894202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112415765	chr1:225894241-225894242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543849144	chr1:225894263-225894264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79788385	chr1:225894271-225894272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544690878	chr1:225894272-225894273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225875200-225898600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:225882400-225908000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:225888400-225899000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:225889200-225894000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:225889200-225896600	Weak transcription	HepG2	liver
6	chr1:225889400-225909200	Weak transcription	Aorta	Aorta
7	chr1:225889600-225897400	Weak transcription	A549	lung
8	chr1:225889600-225898000	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:225890400-225898200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:225890400-225898400	Weak transcription	Osteobl	bone
11	chr1:225890600-225894400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:225891800-225894200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:225893400-225893600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:225893400-225894200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:225893400-225902400	Weak transcription	Gastric	stomach
16	chr1:225893600-225898600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:225894000-225900400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:225894200-225897600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:225894200-225899200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:225894400-225894600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:225894400-225895200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:225895000-225898600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:225895200-225896200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:225895200-225897800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:225895400-225896000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:225895400-225896400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:225895600-225896200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:225895600-225896200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:225895600-225896400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:225895800-225896000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:225895800-225897000	Enhancers	Pancreas	Pancrea
32	chr1:225896000-225896200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:225896000-225896200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:225896000-225896800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:225896000-225898600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:225896000-225899400	Enhancers	HMEC	breast
37	chr1:225896200-225896800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:225896200-225898400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:225896200-225898600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:225896400-225899200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:225896400-225899400	Enhancers	NHEK	skin
42	chr1:225896600-225898600	Enhancers	HepG2	liver
43	chr1:225896600-225899200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:225896800-225897000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:225896800-225899400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:225897000-225897400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:225897000-225902600	Weak transcription	Pancreas	Pancrea
48	chr1:225897400-225898400	Enhancers	A549	lung

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