Variant report

Variant	rs58512974
Chromosome Location	chr1:184923644-184923645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184774454..184775445-chr1:184923329..184923970,3	MCF-7	breast:
2	chr1:184917355..184922277-chr1:184922901..184925530,6	K562	blood:

Variant related genes	Relation type
ENSG00000135842	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2135736	0.84[EUR][1000 genomes]
rs234090	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234110	0.84[EUR][1000 genomes]
rs56098980	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73050699	0.91[AMR][1000 genomes]
rs73054649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73054655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1012048	chr1:184913958-184959967	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184898000-184926200	Weak transcription	Spleen	Spleen
2	chr1:184905800-184940200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:184907400-184938000	Weak transcription	Gastric	stomach
4	chr1:184909400-184927200	Weak transcription	Psoas Muscle	Psoas
5	chr1:184914000-184928200	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:184915600-184928000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:184915800-184940800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:184916600-184926000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:184917000-184925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:184917000-184940200	Weak transcription	Esophagus	oesophagus
11	chr1:184917200-184924400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:184917200-184937400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:184921000-184925000	Weak transcription	Pancreas	Pancrea
14	chr1:184921000-184925000	Weak transcription	Right Atrium	heart
15	chr1:184921600-184925200	Weak transcription	Left Ventricle	heart
16	chr1:184922200-184924000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:184922200-184924000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:184922200-184924200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:184922200-184924200	Enhancers	Fetal Intestine Large	intestine
20	chr1:184922400-184924000	Enhancers	Hela-S3	cervix
21	chr1:184922400-184925200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:184922400-184926200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr1:184922600-184923800	Enhancers	GM12878-XiMat	blood
24	chr1:184922600-184923800	Enhancers	HUVEC	blood vessel
25	chr1:184922600-184923800	Enhancers	NHDF-Ad	bronchial
26	chr1:184922600-184924000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:184922600-184924000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:184922600-184924000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr1:184922600-184924000	Enhancers	Osteobl	bone
30	chr1:184922600-184924200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:184922800-184923800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:184922800-184923800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:184922800-184924000	Enhancers	K562	blood
34	chr1:184922800-184924000	Enhancers	NH-A	brain
35	chr1:184922800-184924200	Enhancers	Fetal Intestine Small	intestine
36	chr1:184923000-184923800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:184923000-184923800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:184923000-184923800	Flanking Active TSS	HMEC	breast
39	chr1:184923000-184924000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:184923000-184924000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:184923000-184924000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:184923000-184924000	Enhancers	Adipose Nuclei	Adipose
43	chr1:184923000-184924200	Flanking Active TSS	NHEK	skin
44	chr1:184923200-184923800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr1:184923200-184923800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:184923200-184923800	Enhancers	Stomach Smooth Muscle	stomach
47	chr1:184923200-184924000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:184923200-184924000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr1:184923200-184924000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:184923200-184924000	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links