Variant report

Variant	nsv945336
Chromosome Location	chr1:227620230-227622798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:227622588-227622622	HepG2	liver:	n/a	n/a
2	CEBPB	chr1:227622516-227622744	K562	blood:	n/a	chr1:227622579-227622590
3	CEBPB	chr1:227621590-227621677	K562	blood:	n/a	n/a
4	CEBPB	chr1:227622561-227622620	Hela-S3	cervix:	n/a	chr1:227622579-227622590
5	CTCF	chr1:227620409-227620443	GM10248	blood:	n/a	n/a
6	EP300	chr1:227620772-227620778	K562	blood:	n/a	n/a
7	IRF1	chr1:227620702-227620902	K562	blood:	n/a	n/a
8	MAX	chr1:227621506-227621969	K562	blood:	n/a	chr1:227621628-227621637 chr1:227621699-227621708 chr1:227621634-227621645
9	MYC	chr1:227621481-227621720	K562	blood:	n/a	chr1:227621628-227621637 chr1:227621699-227621708 chr1:227621634-227621645
10	YY1	chr1:227621503-227621729	K562	blood:	n/a	chr1:227621622-227621630 chr1:227621619-227621629 chr1:227621619-227621641
11	ZNF384	chr1:227622152-227622352	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:227612197..227614219-chr1:227619414..227621480,2	MCF-7	breast:
2	chr1:227504042..227507688-chr1:227616722..227620233,4	K562	blood:
3	chr1:227615748..227618335-chr1:227618739..227621470,2	MCF-7	breast:
4	chr1:227503622..227506462-chr1:227622457..227625340,2	MCF-7	breast:
5	chr1:227505302..227507077-chr1:227617949..227620450,2	MCF-7	breast:
6	chr1:227616535..227618369-chr1:227618757..227620375,2	MCF-7	breast:

Variant related genes	Relation type
BTF3P9	TF binding region
ENSG00000143776	chromatin interactions
ENSG00000242757	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145840342	chr1:227620264-227620265	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531940155	chr1:227620285-227620286	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs554803970	chr1:227620346-227620347	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs574655447	chr1:227620388-227620389	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs185751936	chr1:227620401-227620402	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs376229306	chr1:227620404-227620405	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs190599570	chr1:227620412-227620413	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs547896950	chr1:227620445-227620446	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs558445262	chr1:227620457-227620458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs6426454	chr1:227620515-227620516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181860882	chr1:227620545-227620546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548075131	chr1:227620559-227620560	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs117973330	chr1:227620574-227620575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs3014303	chr1:227620602-227620603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558485908	chr1:227620614-227620615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs149272276	chr1:227620621-227620622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs7540477	chr1:227620628-227620629	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373011985	chr1:227620640-227620641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10916144	chr1:227620649-227620650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74450739	chr1:227620729-227620730	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs114773050	chr1:227620760-227620761	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs6692123	chr1:227620770-227620771	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184263904	chr1:227620831-227620832	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs79123426	chr1:227620891-227620892	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs565314551	chr1:227620957-227620958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561587247	chr1:227620972-227620973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532774576	chr1:227620982-227620983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530366902	chr1:227621001-227621002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs6700857	chr1:227621004-227621005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111884256	chr1:227621024-227621025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12030200	chr1:227621025-227621026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548184359	chr1:227621034-227621035	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs569950880	chr1:227621039-227621040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs78343168	chr1:227621090-227621091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143392400	chr1:227621170-227621171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370185288	chr1:227621183-227621184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12745048	chr1:227621223-227621224	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534978664	chr1:227621230-227621231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534861722	chr1:227621304-227621305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34709449	chr1:227621314-227621315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12566741	chr1:227621367-227621368	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554708546	chr1:227621372-227621373	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568165827	chr1:227621374-227621375	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535400121	chr1:227621387-227621388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557013762	chr1:227621393-227621394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576782607	chr1:227621431-227621432	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543742133	chr1:227621438-227621439	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs138007548	chr1:227621484-227621485	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs56044228	chr1:227621492-227621493	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs116280861	chr1:227621493-227621494	Weak transcription Active TSS Enhancers	TF binding region	1 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
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

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227615200-227621000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:227615400-227623400	Enhancers	Brain Cingulate Gyrus	brain
3	chr1:227615600-227621000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr1:227616000-227622200	Enhancers	Fetal Muscle Leg	muscle
5	chr1:227616400-227621000	Enhancers	Lung	lung
6	chr1:227616600-227625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:227617400-227620800	Weak transcription	Spleen	Spleen
8	chr1:227617400-227625200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:227617600-227621400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:227617600-227624000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:227617600-227624400	Weak transcription	Fetal Lung	lung
12	chr1:227617600-227625200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:227617600-227625200	Weak transcription	Fetal Intestine Small	intestine
14	chr1:227617600-227631200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:227617800-227625200	Weak transcription	Fetal Kidney	kidney
16	chr1:227617800-227625200	Weak transcription	Psoas Muscle	Psoas
17	chr1:227617800-227625200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:227617800-227625200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:227618000-227624600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:227618000-227625200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:227618200-227620600	Enhancers	HUVEC	blood vessel
22	chr1:227618600-227625200	Weak transcription	Left Ventricle	heart
23	chr1:227619000-227620400	Enhancers	NHDF-Ad	bronchial
24	chr1:227619000-227620800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:227619200-227620400	Enhancers	Stomach Mucosa	stomach
26	chr1:227619200-227620600	Weak transcription	Brain Substantia Nigra	brain
27	chr1:227619400-227620400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:227619400-227621600	Weak transcription	Brain Angular Gyrus	brain
29	chr1:227619600-227625200	Weak transcription	Right Ventricle	heart
30	chr1:227619600-227625400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:227619600-227628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:227619800-227620600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:227619800-227620800	Enhancers	Brain Anterior Caudate	brain
34	chr1:227619800-227620800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:227619800-227624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:227619800-227625200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:227619800-227625200	Enhancers	Brain Hippocampus Middle	brain
38	chr1:227619800-227625200	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:227619800-227625200	Weak transcription	Ovary	ovary
40	chr1:227619800-227625400	Weak transcription	HSMMtube	muscle
41	chr1:227620000-227620400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:227620000-227620600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:227620000-227620600	Enhancers	A549	lung
44	chr1:227620000-227621400	Weak transcription	Fetal Brain Male	brain
45	chr1:227620000-227622200	Enhancers	K562	blood
46	chr1:227620000-227623800	Weak transcription	Adipose Nuclei	Adipose
47	chr1:227620000-227624400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:227620000-227624800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:227620000-227625200	Weak transcription	Fetal Intestine Large	intestine
50	chr1:227620000-227625200	Weak transcription	Right Atrium	heart

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