Variant report

Variant	esv3356024
Chromosome Location	chr1:228233379-228235877
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228197532..228200122-chr1:228231400..228233499,2	MCF-7	breast:
2	chr1:227923038..227925297-chr1:228233639..228235496,2	K562	blood:
3	chr1:228230710..228233813-chr1:228249288..228252101,3	MCF-7	breast:
4	chr1:228226049..228228147-chr1:228233323..228235201,2	K562	blood:
5	chr1:228235239..228237153-chr1:228244250..228246467,2	K562	blood:
6	chr1:228233555..228235122-chr1:228244296..228246819,2	K562	blood:
7	chr1:228229732..228234338-chr1:228270201..228272073,4	MCF-7	breast:
8	chr1:228232008..228234474-chr1:228288638..228291094,2	MCF-7	breast:
9	chr1:228230593..228233743-chr1:228266811..228273047,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143793	chromatin interactions
ENSG00000081692	chromatin interactions
ENSG00000143740	chromatin interactions
ENSG00000143761	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191924176	chr1:228233384-228233385	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs568759937	chr1:228233420-228233421	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs553826518	chr1:228233425-228233426	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573864802	chr1:228233441-228233442	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373124691	chr1:228233468-228233469	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539255031	chr1:228233469-228233470	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs181963411	chr1:228233494-228233495	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566576215	chr1:228233525-228233526	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs116430903	chr1:228233532-228233533	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371024894	chr1:228233550-228233551	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555367032	chr1:228233579-228233580	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs562644774	chr1:228233591-228233592	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576220995	chr1:228233617-228233618	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573539957	chr1:228233622-228233623	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs545087527	chr1:228233657-228233658	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs564879491	chr1:228233664-228233665	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs536195196	chr1:228233665-228233666	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs557683206	chr1:228233671-228233672	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs575961424	chr1:228233700-228233701	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs150043075	chr1:228233730-228233731	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs186646739	chr1:228233741-228233742	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs573315885	chr1:228233784-228233785	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs73110782	chr1:228233804-228233805	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562155824	chr1:228233809-228233810	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs529248416	chr1:228233812-228233813	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs114221104	chr1:228233837-228233838	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs190315500	chr1:228233849-228233850	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs533022352	chr1:228233889-228233890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs551180928	chr1:228233919-228233920	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs566525619	chr1:228233962-228233963	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs139958843	chr1:228233990-228233991	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs10578421	chr1:228234014-228234015	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs79967272	chr1:228234027-228234028	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs572969440	chr1:228234028-228234029	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs182805097	chr1:228234041-228234042	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs74732551	chr1:228234067-228234068	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs537843115	chr1:228234163-228234164	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs34324370	chr1:228234164-228234165	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs373103720	chr1:228234165-228234166	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs556161796	chr1:228234170-228234171	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs576031691	chr1:228234210-228234211	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs143812658	chr1:228234238-228234239	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs377562421	chr1:228234239-228234240	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs540116190	chr1:228234253-228234254	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs529567552	chr1:228234274-228234275	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs111163647	chr1:228234276-228234277	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs573350990	chr1:228234301-228234302	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs540771719	chr1:228234335-228234336	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs569071720	chr1:228234339-228234340	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs111068386	chr1:228234344-228234345	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228231400-228239600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:228232400-228233400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:228232600-228233400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
4	chr1:228232600-228233400	Enhancers	Hela-S3	cervix
5	chr1:228232600-228234200	Enhancers	Stomach Mucosa	stomach
6	chr1:228232800-228234200	Enhancers	Placenta	Placenta
7	chr1:228232800-228234600	Enhancers	Esophagus	oesophagus
8	chr1:228232800-228234600	Enhancers	Gastric	stomach
9	chr1:228232800-228234600	Enhancers	Lung	lung
10	chr1:228233000-228233600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr1:228233000-228234000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr1:228233200-228233400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr1:228233200-228233800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:228233200-228233800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:228233200-228234000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:228233200-228234000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:228233600-228233800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:228233800-228234000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:228233800-228234400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:228234000-228234200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:228234000-228234400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:228234000-228234400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr1:228234000-228234400	Bivalent Enhancer	Fetal Lung	lung
24	chr1:228234000-228234600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:228234000-228234600	Enhancers	Pancreas	Pancrea
26	chr1:228234200-228234600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:228234200-228235800	Weak transcription	Stomach Mucosa	stomach
28	chr1:228234400-228234600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:228234600-228238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:228235800-228236200	Enhancers	Stomach Mucosa	stomach

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