Variant report

Variant	esv3405107
Chromosome Location	chr1:228232029-228236527
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228222291..228225840-chr1:228229698..228232365,4	MCF-7	breast:
2	chr1:227923038..227925297-chr1:228233639..228235496,2	K562	blood:
3	chr1:228233555..228235122-chr1:228244296..228246819,2	K562	blood:
4	chr1:228230710..228233813-chr1:228249288..228252101,3	MCF-7	breast:
5	chr1:228197532..228200122-chr1:228231400..228233499,2	MCF-7	breast:
6	chr1:228229732..228234338-chr1:228270201..228272073,4	MCF-7	breast:
7	chr1:228226049..228228147-chr1:228233323..228235201,2	K562	blood:
8	chr1:228235239..228237153-chr1:228244250..228246467,2	K562	blood:
9	chr1:228230050..228232873-chr1:228260583..228263014,2	MCF-7	breast:
10	chr1:228232008..228234474-chr1:228288638..228291094,2	MCF-7	breast:
11	chr1:228211113..228213540-chr1:228236098..228237900,2	K562	blood:
12	chr1:228236035..228237700-chr1:228248678..228250836,2	MCF-7	breast:
13	chr1:228230593..228233743-chr1:228266811..228273047,6	MCF-7	breast:

No data

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

Extended variants
information (count: 187 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:187 , 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	rs570837024	chr1:228232040-228232041	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs183666245	chr1:228232048-228232049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147005417	chr1:228232104-228232105	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs1774752	chr1:228232165-228232166	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs376514570	chr1:228232197-228232198	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553221035	chr1:228232247-228232248	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs12737490	chr1:228232248-228232249	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs570265286	chr1:228232250-228232251	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535649439	chr1:228232356-228232357	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138068069	chr1:228232387-228232388	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs149515177	chr1:228232405-228232406	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545473269	chr1:228232424-228232425	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557368933	chr1:228232443-228232444	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs188281263	chr1:228232458-228232459	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs143986082	chr1:228232459-228232460	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559997067	chr1:228232469-228232470	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530287334	chr1:228232499-228232500	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148328070	chr1:228232502-228232503	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs546933157	chr1:228232508-228232509	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs74143624	chr1:228232509-228232510	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs369254026	chr1:228232576-228232577	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs112109037	chr1:228232584-228232585	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs12092461	chr1:228232600-228232601	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs1342350	chr1:228232631-228232632	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567151879	chr1:228232634-228232635	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs552688739	chr1:228232639-228232640	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs535712884	chr1:228232662-228232663	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs373598040	chr1:228232672-228232673	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs549537805	chr1:228232712-228232713	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs570897930	chr1:228232796-228232797	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs180776621	chr1:228232799-228232800	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs146316881	chr1:228232823-228232824	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs569035477	chr1:228232826-228232827	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs200567302	chr1:228232875-228232876	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs535359824	chr1:228232879-228232880	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs556768280	chr1:228232888-228232889	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs11589513	chr1:228232927-228232928	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs74143625	chr1:228232936-228232937	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs187657182	chr1:228232959-228232960	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs111426627	chr1:228232997-228232998	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs112147569	chr1:228232998-228232999	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs115377816	chr1:228233026-228233027	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540106109	chr1:228233078-228233079	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs144545360	chr1:228233092-228233093	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs79870256	chr1:228233108-228233109	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs146158146	chr1:228233118-228233119	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs112940321	chr1:228233125-228233126	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs531116512	chr1:228233138-228233139	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs116658796	chr1:228233148-228233149	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs114074479	chr1:228233217-228233218	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228230400-228232800	Weak transcription	Esophagus	oesophagus
2	chr1:228231400-228232600	Weak transcription	Stomach Mucosa	stomach
3	chr1:228231400-228239600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:228232000-228232600	Weak transcription	Hela-S3	cervix
5	chr1:228232400-228233400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:228232600-228233400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
7	chr1:228232600-228233400	Enhancers	Hela-S3	cervix
8	chr1:228232600-228234200	Enhancers	Stomach Mucosa	stomach
9	chr1:228232800-228233000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr1:228232800-228233200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:228232800-228233200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:228232800-228234200	Enhancers	Placenta	Placenta
13	chr1:228232800-228234600	Enhancers	Esophagus	oesophagus
14	chr1:228232800-228234600	Enhancers	Gastric	stomach
15	chr1:228232800-228234600	Enhancers	Lung	lung
16	chr1:228233000-228233200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:228233000-228233200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:228233000-228233600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:228233000-228234000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr1:228233200-228233400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr1:228233200-228233800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:228233200-228233800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:228233200-228234000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:228233200-228234000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:228233600-228233800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:228233800-228234000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:228233800-228234400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:228234000-228234200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:228234000-228234400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:228234000-228234400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr1:228234000-228234400	Bivalent Enhancer	Fetal Lung	lung
32	chr1:228234000-228234600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:228234000-228234600	Enhancers	Pancreas	Pancrea
34	chr1:228234200-228234600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:228234200-228235800	Weak transcription	Stomach Mucosa	stomach
36	chr1:228234400-228234600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:228234600-228238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:228235800-228236200	Enhancers	Stomach Mucosa	stomach
39	chr1:228236000-228236400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:228236400-228236800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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