Variant report

Variant	nsv8780
Chromosome Location	chr1:212655635-212658758
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212657352..212659830-chr1:212670221..212673074,2	K562	blood:
2	chr1:212646367..212648750-chr1:212657386..212659832,2	K562	blood:
3	chr1:212656091..212658082-chr1:212788332..212791043,2	K562	blood:
4	chr1:212657477..212661646-chr1:212730263..212734721,4	K562	blood:
5	chr1:212645024..212669819-chr1:212778382..212791615,68	K562	blood:
6	chr1:212656733..212659516-chr1:212769214..212770797,2	MCF-7	breast:
7	chr1:212654477..212657612-chr1:212658521..212662499,5	K562	blood:
8	chr1:212657965..212660283-chr1:212780837..212783197,2	MCF-7	breast:
9	chr1:212648507..212667078-chr1:212779147..212787651,52	K562	blood:
10	chr1:212652289..212653872-chr1:212658480..212660402,2	K562	blood:
11	chr1:212651212..212653872-chr1:212658074..212660402,3	K562	blood:
12	chr1:212654477..212657612-chr1:212658521..212662499,5	K562	blood:
13	chr1:212657982..212660814-chr1:212768286..212770089,2	K562	blood:
14	chr1:212644101..212647867-chr1:212656026..212658886,3	K562	blood:
15	chr1:212658367..212661601-chr1:212781233..212783647,4	MCF-7	breast:
16	chr1:212651102..212654693-chr1:212655377..212658457,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260805	chromatin interactions
ENSG00000264590	chromatin interactions
ENSG00000162772	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189129165	chr1:212655697-212655698	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs113314742	chr1:212655737-212655738	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs79890508	chr1:212655756-212655757	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs577415445	chr1:212655757-212655758	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs181588483	chr1:212655764-212655765	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs147173916	chr1:212655777-212655778	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs576374923	chr1:212655828-212655829	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs543772295	chr1:212655887-212655888	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs377525896	chr1:212655959-212655960	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs555453904	chr1:212655960-212655961	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs574420052	chr1:212655977-212655978	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541735586	chr1:212656020-212656021	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs560034308	chr1:212656031-212656032	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs76362505	chr1:212656090-212656091	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs376375346	chr1:212656093-212656094	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs372587560	chr1:212656104-212656105	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544784255	chr1:212656121-212656122	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs563359485	chr1:212656139-212656140	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530442515	chr1:212656213-212656214	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs536752973	chr1:212656258-212656259	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs548999985	chr1:212656320-212656321	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs566915338	chr1:212656340-212656341	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs140268857	chr1:212656361-212656362	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs11119947	chr1:212656471-212656472	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs72754374	chr1:212656477-212656478	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538794103	chr1:212656541-212656542	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs562209996	chr1:212656552-212656553	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs590156	chr1:212656564-212656565	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561133711	chr1:212656566-212656567	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs374582927	chr1:212656568-212656569	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs537133481	chr1:212656610-212656611	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs555771652	chr1:212656614-212656615	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs574079115	chr1:212656615-212656616	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541747803	chr1:212656625-212656626	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs142707464	chr1:212656632-212656633	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs368755702	chr1:212656645-212656646	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs186156577	chr1:212656656-212656657	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs545552754	chr1:212656752-212656753	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs563718677	chr1:212656756-212656757	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs148797696	chr1:212656790-212656791	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs72754375	chr1:212656799-212656800	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560555811	chr1:212656849-212656850	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs528038437	chr1:212656850-212656851	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs546506748	chr1:212656851-212656852	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs571181712	chr1:212656861-212656862	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532284404	chr1:212656895-212656896	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs532454155	chr1:212656906-212656907	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs550786262	chr1:212656996-212656997	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs142482214	chr1:212656997-212656998	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs545292290	chr1:212657026-212657027	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212641600-212658200	Weak transcription	Gastric	stomach
2	chr1:212650600-212667800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:212650800-212661600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:212651000-212658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:212651200-212655800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:212651200-212656200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:212651400-212658000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:212651600-212656800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:212651600-212659200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:212652200-212656400	Weak transcription	Colonic Mucosa	Colon
11	chr1:212653200-212656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:212653200-212658400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:212653800-212656400	Enhancers	Aorta	Aorta
14	chr1:212653800-212659000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:212653800-212659200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:212654000-212658800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:212655000-212665800	Enhancers	Placenta	Placenta
18	chr1:212655200-212655800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:212655200-212655800	Enhancers	HUVEC	blood vessel
20	chr1:212655200-212656200	Enhancers	Osteobl	bone
21	chr1:212655200-212656600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:212655200-212656600	Flanking Active TSS	A549	lung
23	chr1:212655200-212656600	Enhancers	NHLF	lung
24	chr1:212655200-212656800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:212655200-212656800	Enhancers	Fetal Intestine Small	intestine
26	chr1:212655200-212656800	Enhancers	NHDF-Ad	bronchial
27	chr1:212655200-212657000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:212655200-212658200	Enhancers	Hela-S3	cervix
29	chr1:212655200-212660200	Enhancers	Fetal Intestine Large	intestine
30	chr1:212655200-212662800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:212655400-212655800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:212655400-212656200	Weak transcription	Left Ventricle	heart
33	chr1:212655400-212656400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:212655400-212656800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:212655400-212656800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:212655400-212656800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:212655400-212656800	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:212655400-212660000	Enhancers	HSMM	muscle
39	chr1:212655400-212660200	Enhancers	NH-A	brain
40	chr1:212655600-212655800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:212655600-212658600	Weak transcription	Esophagus	oesophagus
42	chr1:212655600-212662200	Weak transcription	Right Atrium	heart
43	chr1:212655800-212656000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:212655800-212656000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:212655800-212656200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr1:212655800-212656800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:212655800-212657000	Enhancers	HSMMtube	muscle
48	chr1:212655800-212657800	Weak transcription	HUVEC	blood vessel
49	chr1:212656000-212656200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:212656000-212656200	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links