Variant report

Variant	esv3442947
Chromosome Location	chr1:224776590-224780847
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	chr1:224772952..224775800-chr1:224777887..224779617,2	K562	blood:
2	chr1:224778814..224780539-chr1:224784357..224786736,2	K562	blood:

Variant related genes	Relation type
ENSG00000143786	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs371252198	chr1:224776621-224776622	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577935226	chr1:224776637-224776638	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201540106	chr1:224776666-224776667	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199784917	chr1:224776667-224776668	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200518248	chr1:224776668-224776669	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201660659	chr1:224776670-224776671	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150518322	chr1:224776736-224776737	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12567092	chr1:224776737-224776738	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139615822	chr1:224776777-224776778	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572642437	chr1:224776791-224776792	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186692707	chr1:224776810-224776811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534906352	chr1:224776812-224776813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16849875	chr1:224776820-224776821	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149757546	chr1:224776821-224776822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550074242	chr1:224776854-224776855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532540724	chr1:224776877-224776878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551040506	chr1:224776916-224776917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571578895	chr1:224776917-224776918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145540327	chr1:224776947-224776948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192480385	chr1:224776969-224776970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547668721	chr1:224776980-224776981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375096145	chr1:224776992-224776993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183872447	chr1:224777019-224777020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536353211	chr1:224777046-224777047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186295275	chr1:224777075-224777076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544062002	chr1:224777086-224777087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77299777	chr1:224777125-224777126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140346155	chr1:224777145-224777146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16849891	chr1:224777150-224777151	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556524576	chr1:224777173-224777174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111331579	chr1:224777183-224777184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563990866	chr1:224777211-224777212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545227717	chr1:224777235-224777236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs16849895	chr1:224777288-224777289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545016270	chr1:224777289-224777290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542322121	chr1:224777298-224777299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560612033	chr1:224777302-224777303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531225514	chr1:224777330-224777331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549352979	chr1:224777479-224777480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565280202	chr1:224777492-224777493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146584097	chr1:224777503-224777504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373726670	chr1:224777516-224777517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189895433	chr1:224777598-224777599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10799587	chr1:224777609-224777610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536821200	chr1:224777610-224777611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113185913	chr1:224777660-224777661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576762766	chr1:224777716-224777717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559873245	chr1:224777721-224777722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528633357	chr1:224777730-224777731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570144886	chr1:224777731-224777732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Congenital diaphragmatic hernia	21085971	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224753600-224780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224767400-224779600	Weak transcription	HMEC	breast
3	chr1:224767600-224779800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:224767800-224780200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:224768000-224776600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:224768000-224776800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:224768000-224780400	Weak transcription	Psoas Muscle	Psoas
8	chr1:224768800-224779600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:224775800-224777000	Enhancers	Fetal Brain Male	brain
10	chr1:224775800-224777600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:224775800-224777600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:224776000-224776600	Enhancers	Fetal Brain Female	brain
13	chr1:224776000-224777400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:224776000-224777400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:224776000-224777400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:224776000-224777400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:224776000-224777600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:224776200-224777400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:224776200-224777600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:224776400-224776800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:224776400-224776800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:224776400-224777200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:224776400-224777200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:224776400-224777200	Enhancers	HSMMtube	muscle
25	chr1:224776400-224777200	Enhancers	NHDF-Ad	bronchial
26	chr1:224776400-224777600	Enhancers	NH-A	brain
27	chr1:224776600-224777000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:224776600-224777400	Enhancers	Osteobl	bone
29	chr1:224776800-224777000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr1:224776800-224777000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:224776800-224777200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:224776800-224780400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:224777000-224779000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:224777000-224779400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:224777000-224780400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:224777200-224779000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:224777200-224780200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:224777200-224780200	Weak transcription	HSMMtube	muscle
39	chr1:224777200-224780200	Weak transcription	NHDF-Ad	bronchial
40	chr1:224777200-224782200	Weak transcription	Aorta	Aorta
41	chr1:224777400-224780400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:224777400-224780400	Weak transcription	Osteobl	bone
43	chr1:224777400-224782000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:224777400-224782200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:224777400-224782200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:224777600-224778800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:224777600-224779000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:224777600-224779400	Weak transcription	NH-A	brain
49	chr1:224777600-224780400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:224777600-224782200	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links