Variant report

Variant	nsv1006481
Chromosome Location	chr1:246371456-246429058
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246304825..246308561-chr1:246370108..246374332,3	K562	blood:
2	chr1:246175573..246176199-chr1:246409475..246409997,2	K562	blood:
3	chr1:246374232..246375756-chr1:246376592..246378165,2	K562	blood:
4	chr1:246389393..246391368-chr1:246392967..246394891,2	K562	blood:
5	chr1:246353223..246355045-chr1:246376088..246378374,2	K562	blood:
6	chr1:246377128..246379304-chr1:246383039..246386771,4	K562	blood:
7	chr1:246331480..246335528-chr1:246374874..246378179,5	K562	blood:
8	chr1:246392871..246395828-chr1:246399439..246401491,2	K562	blood:
9	chr1:246377128..246379304-chr1:246383039..246386771,4	K562	blood:
10	chr1:246304167..246305874-chr1:246388175..246390883,2	K562	blood:
11	chr1:246331480..246334124-chr1:246374874..246378179,3	K562	blood:
12	chr1:246339928..246341615-chr1:246379189..246380773,2	K562	blood:
13	chr1:246389393..246391368-chr1:246392967..246395959,3	K562	blood:
14	chr1:246374232..246375756-chr1:246376592..246378165,2	K562	blood:
15	chr1:246304167..246305671-chr1:246388175..246390464,2	K562	blood:
16	chr1:246377070..246379889-chr1:246380725..246383126,2	MCF-7	breast:
17	chr1:246355867..246360590-chr1:246376151..246381097,5	K562	blood:
18	chr1:246377070..246379889-chr1:246380725..246383126,2	MCF-7	breast:
19	chr1:246356574..246358892-chr1:246371653..246374292,2	K562	blood:
20	chr1:246349442..246351799-chr1:246370064..246372967,2	K562	blood:
21	chr1:246407877..246409674-chr1:246412098..246414077,2	K562	blood:
22	chr1:246371493..246375018-chr1:246378492..246381970,3	MCF-7	breast:
23	chr1:246371493..246375018-chr1:246378492..246381970,3	MCF-7	breast:
24	chr1:246175475..246176180-chr1:246409421..246410353,2	MCF-7	breast:
25	chr1:246385164..246386821-chr1:246393908..246395594,2	K562	blood:
26	chr1:246383754..246387049-chr1:246387673..246391431,4	K562	blood:
27	chr1:246358405..246360090-chr1:246368790..246371523,2	K562	blood:
28	chr1:246383754..246387049-chr1:246387673..246391431,4	K562	blood:
29	chr1:246389393..246391368-chr1:246392967..246395959,3	K562	blood:
30	chr1:246391990..246394704-chr1:246397912..246399430,2	K562	blood:
31	chr1:246391990..246394704-chr1:246397912..246399430,2	K562	blood:
32	chr1:246363710..246365911-chr1:246369956..246372011,2	MCF-7	breast:
33	chr1:246355633..246357976-chr1:246377083..246378948,2	K562	blood:
34	chr1:246392871..246395828-chr1:246399439..246401491,2	K562	blood:
35	chr1:246385164..246386821-chr1:246393908..246395594,2	K562	blood:
36	chr1:246389393..246391368-chr1:246392967..246394891,2	K562	blood:
37	chr1:246407877..246409674-chr1:246412098..246414077,2	K562	blood:
38	chr1:246345857..246348884-chr1:246378191..246381575,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185420	chromatin interactions

Extended variants
information (count: 2584 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2584 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532447815	chr1:246371477-246371478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552000566	chr1:246371481-246371482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375729535	chr1:246371496-246371497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12133404	chr1:246371497-246371498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2362252	chr1:246371574-246371575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548139115	chr1:246371618-246371619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147331404	chr1:246371636-246371637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140987239	chr1:246371655-246371656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553790878	chr1:246371656-246371657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2362253	chr1:246371676-246371677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539528962	chr1:246371703-246371704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559113985	chr1:246371707-246371708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575700664	chr1:246371717-246371718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572888383	chr1:246371719-246371720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544909961	chr1:246371766-246371767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs35691024	chr1:246371865-246371866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144831848	chr1:246371870-246371871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12130834	chr1:246371884-246371885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540265797	chr1:246371888-246371889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568992827	chr1:246371914-246371915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560105015	chr1:246371919-246371920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs61841261	chr1:246371962-246371963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530910508	chr1:246371973-246371974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532516065	chr1:246371993-246371994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs552204675	chr1:246371994-246371995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144761722	chr1:246371997-246371998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187521869	chr1:246372006-246372007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs148559195	chr1:246372051-246372052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12134377	chr1:246372081-246372082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7412106	chr1:246372096-246372097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs11807027	chr1:246372133-246372134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547465451	chr1:246372142-246372143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12134404	chr1:246372144-246372145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11407617	chr1:246372146-246372147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539550009	chr1:246372169-246372170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183820155	chr1:246372210-246372211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs386641686	chr1:246372232-246372233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs4478780	chr1:246372241-246372242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555129815	chr1:246372271-246372272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76900702	chr1:246372280-246372281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188073099	chr1:246372293-246372294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553753080	chr1:246372312-246372313	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10924550	chr1:246372331-246372332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140831650	chr1:246372362-246372363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562812058	chr1:246372487-246372488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs199586154	chr1:246372492-246372493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs74930923	chr1:246372498-246372499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs75750388	chr1:246372499-246372500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs78417814	chr1:246372502-246372503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541689306	chr1:246372517-246372518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Bipolar disorder	19114987	CNVD
Schizophrenia	19805367	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246340200-246384600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:246343200-246378400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:246349400-246373000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:246363000-246376800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:246363000-246377400	Weak transcription	Osteobl	bone
6	chr1:246364800-246376000	Weak transcription	K562	blood
7	chr1:246368800-246372800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:246369000-246373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:246369000-246374400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:246369200-246384000	Weak transcription	Aorta	Aorta
11	chr1:246370800-246373400	Weak transcription	Lung	lung
12	chr1:246371200-246372000	Enhancers	Fetal Lung	lung
13	chr1:246371400-246372200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:246372200-246378400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:246372800-246373200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:246373000-246373800	Enhancers	Primary hematopoietic stem cells	blood
17	chr1:246373200-246374400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:246373400-246373600	Enhancers	Lung	lung
19	chr1:246373400-246374400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:246373800-246374200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:246373800-246374600	Enhancers	Fetal Brain Male	brain
22	chr1:246373800-246374800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:246374000-246374200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:246374000-246374200	Active TSS	Fetal Brain Female	brain
25	chr1:246374000-246374200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr1:246374000-246374600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:246374000-246374600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr1:246374000-246374800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:246374000-246374800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:246374000-246374800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:246374200-246374400	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:246374200-246374400	Flanking Active TSS	Fetal Brain Female	brain
33	chr1:246374200-246374400	Enhancers	Pancreas	Pancrea
34	chr1:246374200-246374600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:246374200-246374600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr1:246374200-246382800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:246374400-246375000	Enhancers	Fetal Brain Female	brain
38	chr1:246374400-246375800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:246374400-246376000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:246374400-246376200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:246374400-246382400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:246374400-246384400	Weak transcription	Pancreas	Pancrea
43	chr1:246374600-246375200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr1:246374800-246378400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:246375800-246383400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:246376000-246377400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:246376000-246377400	Enhancers	K562	blood
48	chr1:246376000-246381800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr1:246376000-246382000	Weak transcription	NHLF	lung
50	chr1:246376200-246377000	Enhancers	Primary hematopoietic stem cells	blood

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