Variant report

Variant	rs55753141
Chromosome Location	chr4:129767990-129767991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129764059..129767011-chr4:129767338..129770023,2	MCF-7	breast:
2	chr4:129766486..129769711-chr4:129773177..129777072,3	K562	blood:
3	chr4:129760081..129763027-chr4:129766274..129768354,2	K562	blood:
4	chr4:129760081..129764752-chr4:129766854..129770363,4	K562	blood:
5	chr4:129736742..129738918-chr4:129767515..129769516,2	K562	blood:
6	chr3:96997348..96998098-chr4:129767634..129768194,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs55707740	1.00[AMR][1000 genomes]
rs55714747	1.00[AMR][1000 genomes]
rs56002856	1.00[AMR][1000 genomes]
rs56017737	1.00[AMR][1000 genomes]
rs56069250	1.00[AMR][1000 genomes]
rs56180223	0.94[AFR][1000 genomes]
rs57056827	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57542268	1.00[AMR][1000 genomes]
rs57925170	1.00[AMR][1000 genomes]
rs58701517	1.00[AMR][1000 genomes]
rs58799593	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60005322	1.00[AMR][1000 genomes]
rs61700015	1.00[AMR][1000 genomes]
rs73846989	1.00[AMR][1000 genomes]
rs73846992	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73846993	1.00[AMR][1000 genomes]
rs73846994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73846999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847304	1.00[AMR][1000 genomes]
rs73847312	1.00[AMR][1000 genomes]
rs73847313	1.00[AMR][1000 genomes]
rs73847314	1.00[AMR][1000 genomes]
rs73847316	1.00[AMR][1000 genomes]
rs73847317	1.00[AMR][1000 genomes]
rs73847322	1.00[AMR][1000 genomes]
rs73847323	1.00[AMR][1000 genomes]
rs73847326	1.00[AMR][1000 genomes]
rs73847327	1.00[AMR][1000 genomes]
rs73847329	1.00[AMR][1000 genomes]
rs73847331	1.00[AMR][1000 genomes]
rs73847332	1.00[AMR][1000 genomes]
rs73847333	1.00[AMR][1000 genomes]
rs73847334	1.00[AMR][1000 genomes]
rs73847341	1.00[AMR][1000 genomes]
rs73847342	1.00[AMR][1000 genomes]
rs73847345	1.00[AMR][1000 genomes]
rs73847347	1.00[AMR][1000 genomes]
rs73847354	1.00[AMR][1000 genomes]
rs73847355	1.00[AMR][1000 genomes]
rs73847358	1.00[AMR][1000 genomes]
rs73847375	1.00[AMR][1000 genomes]
rs73847378	1.00[AMR][1000 genomes]
rs73847380	1.00[AMR][1000 genomes]
rs73847383	1.00[AMR][1000 genomes]
rs73847391	1.00[AMR][1000 genomes]
rs73847392	1.00[AMR][1000 genomes]
rs73847395	1.00[AMR][1000 genomes]
rs73850005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850009	1.00[AMR][1000 genomes]
rs73850010	1.00[AMR][1000 genomes]
rs73850011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850012	1.00[AMR][1000 genomes]
rs73850013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850015	1.00[AMR][1000 genomes]
rs73850016	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850017	1.00[AMR][1000 genomes]
rs73850018	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850019	1.00[AMR][1000 genomes]
rs73850027	1.00[AMR][1000 genomes]
rs73850028	1.00[AMR][1000 genomes]
rs73850035	1.00[AMR][1000 genomes]
rs73850039	1.00[AMR][1000 genomes]
rs73850041	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850059	1.00[AMR][1000 genomes]
rs73850061	1.00[AMR][1000 genomes]
rs73850064	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129746800-129770200	Weak transcription	HMEC	breast
2	chr4:129753600-129798600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:129753800-129770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:129753800-129795000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:129754400-129770600	Weak transcription	Fetal Kidney	kidney
6	chr4:129757000-129770000	Weak transcription	Small Intestine	intestine
7	chr4:129757200-129768200	Weak transcription	Fetal Lung	lung
8	chr4:129760400-129783400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:129761400-129768000	Strong transcription	Primary B cells from cord blood	blood
10	chr4:129761600-129769000	Enhancers	Right Atrium	heart
11	chr4:129761600-129770800	Strong transcription	NHDF-Ad	bronchial
12	chr4:129761600-129779400	Strong transcription	Fetal Stomach	stomach
13	chr4:129761600-129782000	Strong transcription	Fetal Intestine Small	intestine
14	chr4:129761600-129785000	Strong transcription	Thymus	Thymus
15	chr4:129761800-129775000	Strong transcription	GM12878-XiMat	blood
16	chr4:129762000-129782800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr4:129762200-129773800	Strong transcription	Dnd41	blood
18	chr4:129762200-129775000	Strong transcription	Fetal Thymus	thymus
19	chr4:129762400-129771800	Strong transcription	K562	blood
20	chr4:129762400-129775000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:129762400-129775000	Strong transcription	HSMM	muscle
22	chr4:129762400-129784200	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr4:129762600-129775000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:129762600-129775400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:129762800-129784200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:129763000-129768600	Weak transcription	Fetal Heart	heart
27	chr4:129763000-129774600	Strong transcription	Primary T cells from cord blood	blood
28	chr4:129763000-129783800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:129763000-129785800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:129763000-129787200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:129763200-129768200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:129763200-129784000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:129763200-129784000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:129763400-129774800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:129763400-129784200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:129763600-129774600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:129763600-129774800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr4:129763600-129774800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:129763600-129774800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:129763600-129777400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:129763600-129780400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr4:129763600-129786600	Strong transcription	Fetal Intestine Large	intestine
43	chr4:129763800-129768200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:129763800-129768800	Genic enhancers	Left Ventricle	heart
45	chr4:129763800-129769200	Genic enhancers	Pancreas	Pancrea
46	chr4:129763800-129769600	Strong transcription	NH-A	brain
47	chr4:129763800-129774000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:129763800-129774400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr4:129763800-129775000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:129763800-129775200	Strong transcription	Primary hematopoietic stem cells	blood

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