Variant report

Variant	esv2565209
Chromosome Location	chr1:227498365-227499852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227499595..227501677-chr1:227627472..227629902,2	K562	blood:
2	chr1:227490028..227493033-chr1:227499168..227502183,4	K562	blood:
3	chr1:227496685..227499623-chr1:227502057..227508313,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143776	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34491074	chr1:227498375-227498376	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545887228	chr1:227498376-227498377	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575656192	chr1:227498380-227498381	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192022714	chr1:227498383-227498384	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182969187	chr1:227498386-227498387	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs11805295	chr1:227498387-227498388	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370292669	chr1:227498394-227498395	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200902466	chr1:227498395-227498396	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11804228	chr1:227498396-227498397	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201439539	chr1:227498404-227498405	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs199630293	chr1:227498405-227498406	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533220558	chr1:227498446-227498447	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540514367	chr1:227498466-227498467	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112746919	chr1:227498469-227498470	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371619872	chr1:227498470-227498471	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374263813	chr1:227498489-227498490	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371498712	chr1:227498511-227498512	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs61834325	chr1:227498517-227498518	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545266104	chr1:227498536-227498537	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560765311	chr1:227498537-227498538	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs63290361	chr1:227498555-227498556	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs386639949	chr1:227498582-227498583	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11808684	chr1:227498584-227498585	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs113572722	chr1:227498593-227498594	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531388763	chr1:227498594-227498595	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551233089	chr1:227498599-227498600	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34113967	chr1:227498600-227498601	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533587060	chr1:227498643-227498644	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571448189	chr1:227498645-227498646	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371757239	chr1:227498671-227498672	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs199658369	chr1:227498676-227498677	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs187191965	chr1:227498688-227498689	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548035553	chr1:227498691-227498692	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148082029	chr1:227498704-227498705	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374003973	chr1:227498713-227498714	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs562760431	chr1:227498732-227498733	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs77291093	chr1:227498752-227498753	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34491656	chr1:227498781-227498782	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191699826	chr1:227498809-227498810	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373955582	chr1:227498830-227498831	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558567327	chr1:227498831-227498832	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529958786	chr1:227498878-227498879	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535758632	chr1:227498879-227498880	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11383535	chr1:227498880-227498881	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs397816713	chr1:227498885-227498886	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs578171174	chr1:227498904-227498905	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs377571670	chr1:227498957-227498958	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545718214	chr1:227498963-227498964	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148776096	chr1:227498975-227498976	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375866257	chr1:227498976-227498977	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Breast cancer	22522925	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227462600-227500200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:227469200-227500200	Weak transcription	Left Ventricle	heart
3	chr1:227469200-227502600	Weak transcription	HSMM	muscle
4	chr1:227469600-227501800	Weak transcription	Fetal Stomach	stomach
5	chr1:227475000-227502000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:227475200-227500200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:227483600-227500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:227483800-227500400	Weak transcription	Right Atrium	heart
9	chr1:227487000-227500200	Weak transcription	HMEC	breast
10	chr1:227487000-227501800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:227487000-227501800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:227487000-227502000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:227487600-227502400	Weak transcription	Osteobl	bone
14	chr1:227487800-227500200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:227487800-227500400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:227487800-227501400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:227488000-227501800	Weak transcription	A549	lung
18	chr1:227490200-227503800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:227491400-227501400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:227491600-227499200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:227492600-227503400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:227493200-227499400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:227494200-227500200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:227494400-227500200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:227495000-227500200	Weak transcription	Brain Substantia Nigra	brain
26	chr1:227495000-227503400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:227496000-227498400	Enhancers	Adipose Nuclei	Adipose
28	chr1:227496200-227498400	Enhancers	Fetal Heart	heart
29	chr1:227496200-227500200	Weak transcription	Pancreas	Pancrea
30	chr1:227496200-227502000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:227496200-227504800	Weak transcription	Gastric	stomach
32	chr1:227496400-227501200	Enhancers	HUVEC	blood vessel
33	chr1:227496400-227501800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:227496400-227502000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:227496600-227498800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr1:227496600-227499600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:227496800-227499400	Weak transcription	Hela-S3	cervix
38	chr1:227496800-227501800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:227496800-227502000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:227497000-227501600	Weak transcription	NHDF-Ad	bronchial
41	chr1:227497200-227498400	Enhancers	Brain Angular Gyrus	brain
42	chr1:227497200-227498400	Flanking Active TSS	K562	blood
43	chr1:227497200-227501800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:227497200-227502600	Weak transcription	Fetal Intestine Large	intestine
45	chr1:227497400-227498600	Enhancers	Brain Cingulate Gyrus	brain
46	chr1:227497400-227499000	Enhancers	Stomach Mucosa	stomach
47	chr1:227497600-227501000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr1:227497600-227501800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:227497600-227502000	Weak transcription	Liver	Liver
50	chr1:227497800-227498400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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