Variant report

Variant	esv3436262
Chromosome Location	chr1:228228329-228232627
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228229732..228234338-chr1:228270201..228272073,4	MCF-7	breast:
2	chr1:228230593..228233743-chr1:228266811..228273047,6	MCF-7	breast:
3	chr1:228218670..228221362-chr1:228227720..228229463,2	K562	blood:
4	chr1:228226578..228229200-chr1:228230155..228231993,2	MCF-7	breast:
5	chr1:228230710..228233813-chr1:228249288..228252101,3	MCF-7	breast:
6	chr1:228230109..228232010-chr1:228259554..228261382,2	MCF-7	breast:
7	chr1:228232008..228234474-chr1:228288638..228291094,2	MCF-7	breast:
8	chr1:228230050..228232873-chr1:228260583..228263014,2	MCF-7	breast:
9	chr1:228225342..228227954-chr1:228229065..228231428,3	MCF-7	breast:
10	chr1:228197532..228200122-chr1:228231400..228233499,2	MCF-7	breast:
11	chr1:228222291..228225840-chr1:228229698..228232365,4	MCF-7	breast:
12	chr1:228226578..228229200-chr1:228230155..228231993,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143761	chromatin interactions
ENSG00000143793	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs146604756	chr1:228228339-228228340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371166587	chr1:228228351-228228352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140246938	chr1:228228359-228228360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183411711	chr1:228228360-228228361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531376206	chr1:228228365-228228366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573596237	chr1:228228400-228228401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534199845	chr1:228228445-228228446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555954152	chr1:228228504-228228505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188413137	chr1:228228516-228228517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551381871	chr1:228228542-228228543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11328093	chr1:228228587-228228588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565414510	chr1:228228589-228228590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71754599	chr1:228228673-228228674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4065965	chr1:228228694-228228695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs862000	chr1:228228695-228228696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56307641	chr1:228228714-228228715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6143658	chr1:228228715-228228716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201615797	chr1:228228721-228228722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72466984	chr1:228228722-228228723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139744838	chr1:228228728-228228729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149273181	chr1:228228744-228228745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397767394	chr1:228228750-228228751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115352682	chr1:228228766-228228767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35920626	chr1:228228771-228228772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137944139	chr1:228228793-228228794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190068862	chr1:228228808-228228809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149037258	chr1:228228816-228228817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182378175	chr1:228228873-228228874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79352133	chr1:228228874-228228875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552638870	chr1:228228916-228228917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145738866	chr1:228228941-228228942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549957736	chr1:228228958-228228959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571375024	chr1:228229026-228229027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201417246	chr1:228229040-228229041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538703870	chr1:228229059-228229060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186665782	chr1:228229063-228229064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1034792	chr1:228229067-228229068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs534542583	chr1:228229097-228229098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555774434	chr1:228229124-228229125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567895683	chr1:228229147-228229148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538058504	chr1:228229198-228229199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532632488	chr1:228229220-228229221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375936909	chr1:228229221-228229222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138939297	chr1:228229251-228229252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577729277	chr1:228229296-228229297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545068961	chr1:228229297-228229298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553785933	chr1:228229320-228229321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572341982	chr1:228229338-228229339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373150730	chr1:228229345-228229346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1857142	chr1:228229357-228229358	Weak transcription	n/a	n/a	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228225800-228231400	Weak transcription	Right Atrium	heart
2	chr1:228229400-228229800	Enhancers	Esophagus	oesophagus
3	chr1:228229800-228230000	Weak transcription	Esophagus	oesophagus
4	chr1:228230000-228230400	Enhancers	Esophagus	oesophagus
5	chr1:228230400-228230600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
6	chr1:228230400-228232800	Weak transcription	Esophagus	oesophagus
7	chr1:228230600-228231400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:228230600-228231400	Enhancers	A549	lung
9	chr1:228230600-228231600	Enhancers	HMEC	breast
10	chr1:228231000-228231200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:228231000-228231400	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr1:228231000-228232000	Enhancers	Hela-S3	cervix
13	chr1:228231200-228231600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:228231400-228231600	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr1:228231400-228232600	Weak transcription	Stomach Mucosa	stomach
16	chr1:228231400-228239600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:228232000-228232600	Weak transcription	Hela-S3	cervix
18	chr1:228232400-228233400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:228232600-228233400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr1:228232600-228233400	Enhancers	Hela-S3	cervix
21	chr1:228232600-228234200	Enhancers	Stomach Mucosa	stomach

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