Variant report

Variant	esv3320876
Chromosome Location	chr1:180228398-180230572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180226862..180229211-chr1:180475733..180477754,2	MCF-7	breast:
2	chr1:180229024..180231831-chr1:180234327..180236591,2	K562	blood:
3	chr1:180194875..180197086-chr1:180228281..180230421,3	MCF-7	breast:
4	chr1:180226218..180228794-chr1:180228958..180230849,2	K562	blood:
5	chr1:180226218..180228794-chr1:180228958..180230849,2	K562	blood:
6	chr1:180224667..180226177-chr1:180228800..180230829,2	K562	blood:
7	chr1:180221132..180228794-chr1:180228825..180237340,13	K562	blood:
8	chr1:180221132..180228794-chr1:180228825..180237340,13	K562	blood:
9	chr1:180226912..180229884-chr1:180233692..180235253,2	K562	blood:
10	chr1:180228697..180230849-chr1:180243270..180244817,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230124	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572597835	chr1:180228460-180228461	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147399594	chr1:180228491-180228492	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571766601	chr1:180228492-180228493	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12137243	chr1:180228544-180228545	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547911086	chr1:180228552-180228553	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139690152	chr1:180228555-180228556	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536681221	chr1:180228589-180228590	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556124038	chr1:180228603-180228604	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs822724	chr1:180228611-180228612	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs538516039	chr1:180228616-180228617	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs558332267	chr1:180228617-180228618	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs572162145	chr1:180228621-180228622	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs374814533	chr1:180228627-180228628	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs5779056	chr1:180228641-180228642	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs34287292	chr1:180228712-180228713	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142853580	chr1:180228761-180228762	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150643692	chr1:180228788-180228789	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574427265	chr1:180228819-180228820	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543476491	chr1:180228842-180228843	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563239945	chr1:180228862-180228863	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114194576	chr1:180228863-180228864	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565430547	chr1:180228875-180228876	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532846142	chr1:180228889-180228890	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370374202	chr1:180228897-180228898	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185270016	chr1:180228924-180228925	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530102540	chr1:180228944-180228945	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs36098677	chr1:180228945-180228946	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549788180	chr1:180228948-180228949	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569666698	chr1:180228964-180228965	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs822723	chr1:180228968-180228969	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139668238	chr1:180228975-180228976	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs565830766	chr1:180229003-180229004	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533014916	chr1:180229016-180229017	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76906726	chr1:180229033-180229034	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554451494	chr1:180229064-180229065	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs843997	chr1:180229065-180229066	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371605650	chr1:180229072-180229073	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs822722	chr1:180229083-180229084	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560294210	chr1:180229084-180229085	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188571468	chr1:180229092-180229093	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576956552	chr1:180229118-180229119	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533047599	chr1:180229153-180229154	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs181410828	chr1:180229158-180229159	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11586878	chr1:180229169-180229170	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187046166	chr1:180229223-180229224	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75343034	chr1:180229224-180229225	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561300016	chr1:180229243-180229244	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530135244	chr1:180229260-180229261	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs191901568	chr1:180229275-180229276	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149771484	chr1:180229290-180229291	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
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
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180222600-180239200	Weak transcription	Gastric	stomach
2	chr1:180223800-180234400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:180224000-180234400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:180224600-180234200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:180227400-180229400	Strong transcription	Right Atrium	heart
6	chr1:180228200-180228400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:180228200-180228400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
8	chr1:180228200-180228600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:180228200-180228800	Bivalent Enhancer	HepG2	liver
10	chr1:180228200-180229200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:180228200-180229400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:180228400-180228600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:180229200-180230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:180229400-180234000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:180229400-180240400	Weak transcription	Right Atrium	heart
16	chr1:180229600-180229800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:180229800-180230200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr1:180229800-180232800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:180230200-180231000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:180230400-180230600	Bivalent Enhancer	Placenta	Placenta
21	chr1:180230400-180230800	Enhancers	Pancreas	Pancrea

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