Variant report

Variant	esv2764205
Chromosome Location	chr1:246369599-246384914
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246331480..246335528-chr1:246374874..246378179,5	K562	blood:
2	chr1:246374232..246375756-chr1:246376592..246378165,2	K562	blood:
3	chr1:246383754..246387049-chr1:246387673..246391431,4	K562	blood:
4	chr1:246358405..246360090-chr1:246368790..246371523,2	K562	blood:
5	chr1:246361048..246363741-chr1:246366833..246369637,3	K562	blood:
6	chr1:246355867..246360590-chr1:246376151..246381097,5	K562	blood:
7	chr1:246377128..246379304-chr1:246383039..246386771,4	K562	blood:
8	chr1:246363710..246365911-chr1:246369956..246372011,2	MCF-7	breast:
9	chr1:246339928..246341615-chr1:246379189..246380773,2	K562	blood:
10	chr1:246355633..246357976-chr1:246377083..246378948,2	K562	blood:
11	chr1:246377070..246379889-chr1:246380725..246383126,2	MCF-7	breast:
12	chr1:246374232..246375756-chr1:246376592..246378165,2	K562	blood:
13	chr1:246349442..246351799-chr1:246370064..246372967,2	K562	blood:
14	chr1:246356574..246358892-chr1:246371653..246374292,2	K562	blood:
15	chr1:246359779..246363741-chr1:246364321..246369637,8	K562	blood:
16	chr1:246331480..246334124-chr1:246374874..246378179,3	K562	blood:
17	chr1:246377128..246379304-chr1:246383039..246386771,4	K562	blood:
18	chr1:246353223..246355045-chr1:246376088..246378374,2	K562	blood:
19	chr1:246371493..246375018-chr1:246378492..246381970,3	MCF-7	breast:
20	chr1:246345857..246348884-chr1:246378191..246381575,3	K562	blood:
21	chr1:246377070..246379889-chr1:246380725..246383126,2	MCF-7	breast:
22	chr1:246371493..246375018-chr1:246378492..246381970,3	MCF-7	breast:
23	chr1:246357089..246359442-chr1:246368577..246370809,2	MCF-7	breast:
24	chr1:246304825..246308561-chr1:246370108..246374332,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185420	chromatin interactions

Extended variants
information (count: 657 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:657 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7539358	chr1:246369599-246369600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376720902	chr1:246369648-246369649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567773076	chr1:246369763-246369764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536342914	chr1:246369794-246369795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140354423	chr1:246369898-246369899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7528471	chr1:246369912-246369913	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs148414234	chr1:246370033-246370034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375858184	chr1:246370034-246370035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538549292	chr1:246370135-246370136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558402295	chr1:246370145-246370146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535385583	chr1:246370228-246370229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574909161	chr1:246370245-246370246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549976346	chr1:246370292-246370293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372278669	chr1:246370327-246370328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574522562	chr1:246370359-246370360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143534186	chr1:246370360-246370361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12069206	chr1:246370415-246370416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs181567160	chr1:246370433-246370434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148325140	chr1:246370459-246370460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545740307	chr1:246370498-246370499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565546295	chr1:246370505-246370506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141491643	chr1:246370531-246370532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75328540	chr1:246370549-246370550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578232258	chr1:246370552-246370553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3845517	chr1:246370620-246370621	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550997500	chr1:246370654-246370655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567541864	chr1:246370673-246370674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185317103	chr1:246370743-246370744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546641651	chr1:246370749-246370750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566351292	chr1:246370777-246370778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150848266	chr1:246370784-246370785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551937314	chr1:246370819-246370820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114570650	chr1:246370843-246370844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs3934366	chr1:246370889-246370890	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191260127	chr1:246370905-246370906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75051858	chr1:246370907-246370908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533892702	chr1:246370919-246370920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182689279	chr1:246371034-246371035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573494846	chr1:246371037-246371038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138168160	chr1:246371070-246371071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556327098	chr1:246371085-246371086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565472204	chr1:246371112-246371113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141652967	chr1:246371195-246371196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201350801	chr1:246371196-246371197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs66734984	chr1:246371197-246371198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74163415	chr1:246371198-246371199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143811772	chr1:246371270-246371271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117886504	chr1:246371275-246371276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561336934	chr1:246371307-246371308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530013778	chr1:246371316-246371317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246338400-246371400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:246340200-246384600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:246343200-246378400	Weak transcription	Primary T cells from cord blood	blood
4	chr1:246349400-246373000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:246363000-246376800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:246363000-246377400	Weak transcription	Osteobl	bone
7	chr1:246364800-246376000	Weak transcription	K562	blood
8	chr1:246368600-246370000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:246368800-246369800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:246368800-246372800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:246369000-246373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:246369000-246374400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:246369200-246370000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:246369200-246384000	Weak transcription	Aorta	Aorta
15	chr1:246370800-246373400	Weak transcription	Lung	lung
16	chr1:246371200-246372000	Enhancers	Fetal Lung	lung
17	chr1:246371400-246372200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:246372200-246378400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:246372800-246373200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:246373000-246373800	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:246373200-246374400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:246373400-246373600	Enhancers	Lung	lung
23	chr1:246373400-246374400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:246373800-246374200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:246373800-246374600	Enhancers	Fetal Brain Male	brain
26	chr1:246373800-246374800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:246374000-246374200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:246374000-246374200	Active TSS	Fetal Brain Female	brain
29	chr1:246374000-246374200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr1:246374000-246374600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:246374000-246374600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:246374000-246374800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:246374000-246374800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:246374000-246374800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:246374200-246374400	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:246374200-246374400	Flanking Active TSS	Fetal Brain Female	brain
37	chr1:246374200-246374400	Enhancers	Pancreas	Pancrea
38	chr1:246374200-246374600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:246374200-246374600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr1:246374200-246382800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:246374400-246375000	Enhancers	Fetal Brain Female	brain
42	chr1:246374400-246375800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:246374400-246376000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:246374400-246376200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:246374400-246382400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:246374400-246384400	Weak transcription	Pancreas	Pancrea
47	chr1:246374600-246375200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr1:246374800-246378400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:246375800-246383400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:246376000-246377400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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