Variant report

Variant	esv1830564
Chromosome Location	chr1:247288469-247293214
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247291341..247292905-chr1:247330458..247334056,3	K562	blood:
2	chr1:247289044..247290928-chr1:247292410..247294436,2	MCF-7	breast:
3	chr1:247291347..247292905-chr1:247330458..247332447,2	K562	blood:
4	chr1:247291385..247292961-chr1:247332715..247334283,2	MCF-7	breast:
5	chr1:247291043..247292946-chr1:247332755..247334621,3	MCF-7	breast:
6	chr1:247289906..247291409-chr1:247327499..247329050,2	K562	blood:
7	chr1:247289823..247292787-chr1:247327556..247329184,2	K562	blood:
8	chr1:247289580..247291356-chr1:247334098..247335622,2	MCF-7	breast:
9	chr1:247289044..247290928-chr1:247292410..247294436,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196418	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4925715	chr1:247288469-247288470	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369943308	chr1:247288496-247288497	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570180379	chr1:247288500-247288501	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549633203	chr1:247288543-247288544	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74834106	chr1:247288548-247288549	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555523578	chr1:247288625-247288626	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373362026	chr1:247288643-247288644	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192762130	chr1:247288658-247288659	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185423685	chr1:247288659-247288660	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112709610	chr1:247288703-247288704	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558035007	chr1:247288706-247288707	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577829550	chr1:247288728-247288729	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71566694	chr1:247288731-247288732	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200214892	chr1:247288732-247288733	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71566695	chr1:247288733-247288734	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543228017	chr1:247288771-247288772	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7556588	chr1:247288773-247288774	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146307366	chr1:247288785-247288786	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573431620	chr1:247288790-247288791	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149193366	chr1:247288796-247288797	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376778642	chr1:247288797-247288798	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542313868	chr1:247288805-247288806	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs115454858	chr1:247288827-247288828	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs528100708	chr1:247288869-247288870	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs139472591	chr1:247288883-247288884	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs116837993	chr1:247288895-247288896	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs34497447	chr1:247288901-247288902	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs143066402	chr1:247288919-247288920	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs189467509	chr1:247288943-247288944	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs570259898	chr1:247288946-247288947	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs12130663	chr1:247288954-247288955	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs113134375	chr1:247288973-247288974	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs202028500	chr1:247288975-247288976	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs370886282	chr1:247288979-247288980	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs374760143	chr1:247288982-247288983	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs199948347	chr1:247288984-247288985	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs375040046	chr1:247288985-247288986	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs71643736	chr1:247288986-247288987	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs549466350	chr1:247288995-247288996	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs79566962	chr1:247289066-247289067	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181470579	chr1:247289133-247289134	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557829992	chr1:247289171-247289172	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60526471	chr1:247289191-247289192	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186060922	chr1:247289215-247289216	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537628448	chr1:247289247-247289248	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140804926	chr1:247289279-247289280	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142736718	chr1:247289332-247289333	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188518860	chr1:247289337-247289338	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181119680	chr1:247289355-247289356	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186557107	chr1:247289366-247289367	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247279000-247290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:247282600-247291000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:247286400-247290800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:247287000-247291000	Weak transcription	Hela-S3	cervix
5	chr1:247288000-247291000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:247288200-247288800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:247288200-247289200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:247288200-247291000	Weak transcription	HSMMtube	muscle
9	chr1:247288800-247289000	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:247288800-247289200	ZNF genes & repeats	A549	lung
11	chr1:247288800-247294200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:247289000-247289200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:247289000-247289200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:247289000-247289200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:247289000-247289400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr1:247289000-247289400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:247289000-247289400	Enhancers	Dnd41	blood
18	chr1:247289200-247289400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:247289200-247289400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr1:247289200-247289400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:247289200-247289400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:247289200-247289400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:247289200-247290800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:247289200-247291000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:247289200-247291000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:247289200-247293200	Weak transcription	A549	lung
27	chr1:247289200-247294400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:247289400-247290800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:247289400-247291000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:247289400-247291000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:247289400-247291000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:247289400-247291000	Weak transcription	Dnd41	blood
33	chr1:247289400-247293600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:247289600-247290800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:247289800-247291000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:247290800-247291000	Enhancers	Primary B cells from cord blood	blood
37	chr1:247290800-247291000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:247290800-247291000	Enhancers	Adipose Nuclei	Adipose
39	chr1:247290800-247291000	Enhancers	K562	blood
40	chr1:247290800-247291200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:247290800-247291200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:247290800-247291200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr1:247290800-247291200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:247290800-247291200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:247290800-247291200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr1:247290800-247291200	Active TSS	Primary hematopoietic stem cells	blood
47	chr1:247290800-247291200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:247290800-247291200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:247290800-247291200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:247290800-247291200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links