Variant report

Variant	esv2756894
Chromosome Location	chr1:246939856-246946021
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246941244..246944008-chr1:246946969..246949951,3	MCF-7	breast:
2	chr1:246943277..246944793-chr1:246945937..246947774,2	K562	blood:
3	chr1:246940232..246941968-chr1:246942195..246944093,2	K562	blood:
4	chr1:246935414..246937125-chr1:246938877..246940791,2	K562	blood:
5	chr1:246929352..246931655-chr1:246940972..246943621,2	K562	blood:
6	chr1:246940112..246942102-chr1:247093044..247095026,2	K562	blood:
7	chr1:246937235..246940255-chr1:246941352..246944349,3	K562	blood:
8	chr1:246942351..246945041-chr1:246952061..246954954,2	K562	blood:
9	chr1:246933982..246937125-chr1:246938877..246940973,4	K562	blood:
10	chr1:246934177..246937192-chr1:246941017..246944440,4	K562	blood:
11	chr1:246940173..246942753-chr1:246943130..246945283,2	MCF-7	breast:
12	chr1:246941558..246944485-chr20:45985608..45987605,2	MCF-7	breast:
13	chr1:246940232..246941968-chr1:246942195..246944093,2	K562	blood:
14	chr1:246940173..246942753-chr1:246943130..246945283,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260855	chromatin interactions
ENSG00000227953	chromatin interactions
ENSG00000153207	chromatin interactions
ENSG00000223519	chromatin interactions

Extended variants
information (count: 252 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3795465	chr1:246939856-246939857	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138351654	chr1:246939861-246939862	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565839841	chr1:246939884-246939885	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142840054	chr1:246939921-246939922	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558149401	chr1:246939927-246939928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6685364	chr1:246939943-246939944	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs145023937	chr1:246939986-246939987	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189953601	chr1:246939999-246940000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573925869	chr1:246940017-246940018	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542843580	chr1:246940042-246940043	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559460517	chr1:246940058-246940059	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572988272	chr1:246940061-246940062	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138812120	chr1:246940094-246940095	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142250709	chr1:246940097-246940098	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112593902	chr1:246940135-246940136	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs7522966	chr1:246940141-246940142	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563648389	chr1:246940160-246940161	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs370613894	chr1:246940168-246940169	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs76163731	chr1:246940178-246940179	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs3795464	chr1:246940179-246940180	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs3795463	chr1:246940182-246940183	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs74154804	chr1:246940244-246940245	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551465236	chr1:246940277-246940278	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs567889261	chr1:246940285-246940286	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs540418790	chr1:246940317-246940318	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs547587426	chr1:246940318-246940319	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs180803559	chr1:246940331-246940332	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371847238	chr1:246940338-246940339	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs535308344	chr1:246940432-246940433	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs3795462	chr1:246940442-246940443	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs41305558	chr1:246940448-246940449	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs536414695	chr1:246940483-246940484	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs553236646	chr1:246940508-246940509	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs571807332	chr1:246940511-246940512	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs76156068	chr1:246940615-246940616	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs564716367	chr1:246940627-246940628	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs575136500	chr1:246940643-246940644	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs61734959	chr1:246940665-246940666	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs141930083	chr1:246940669-246940670	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs185174948	chr1:246940732-246940733	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs369973259	chr1:246940735-246940736	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs4325176	chr1:246940757-246940758	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs66929931	chr1:246940791-246940792	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs72448872	chr1:246940795-246940796	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs542798934	chr1:246940825-246940826	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs4926454	chr1:246940826-246940827	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4244627	chr1:246940864-246940865	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs4926455	chr1:246940928-246940929	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571662437	chr1:246940960-246940961	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs530903921	chr1:246941079-246941080	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246888400-246946400	Weak transcription	Small Intestine	intestine
2	chr1:246888600-246945600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:246895000-246942200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:246902800-246952800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:246904600-246942800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:246905000-246945800	Weak transcription	Psoas Muscle	Psoas
7	chr1:246920800-246944200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:246921200-246943200	Strong transcription	Dnd41	blood
9	chr1:246921600-246945800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:246922200-246944600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:246923200-246945000	Strong transcription	Fetal Muscle Leg	muscle
12	chr1:246924000-246941200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:246924000-246944200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:246924400-246945800	Weak transcription	Primary B cells from cord blood	blood
15	chr1:246925200-246952200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:246928800-246944800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:246931200-246940600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:246932400-246945800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:246932400-246952000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:246932600-246948000	Strong transcription	Liver	Liver
21	chr1:246932600-246948600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:246932600-246948600	Weak transcription	Esophagus	oesophagus
23	chr1:246932800-246945000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:246932800-246945600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:246932800-246945800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:246932800-246948800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:246932800-246952400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:246932800-246956400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:246933200-246945800	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:246933600-246941200	Strong transcription	Adipose Nuclei	Adipose
31	chr1:246934400-246941000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:246934400-246944800	Strong transcription	Fetal Intestine Large	intestine
33	chr1:246934600-246944200	Strong transcription	HSMM	muscle
34	chr1:246934800-246940800	Strong transcription	HepG2	liver
35	chr1:246934800-246941000	Strong transcription	HSMMtube	muscle
36	chr1:246935600-246940000	Weak transcription	A549	lung
37	chr1:246937000-246940800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:246937000-246944000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:246937800-246940600	Strong transcription	Brain Cingulate Gyrus	brain
40	chr1:246937800-246940600	Strong transcription	NH-A	brain
41	chr1:246937800-246941000	Strong transcription	Primary hematopoietic stem cells	blood
42	chr1:246937800-246941200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:246937800-246941200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr1:246938000-246943000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:246938200-246940800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:246938400-246940000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:246938400-246940200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:246938400-246940600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:246938400-246940600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr1:246938400-246940800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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