Variant report

Variant	rs234090
Chromosome Location	chr1:184918290-184918291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184906338..184908324-chr1:184916877..184918919,2	K562	blood:
2	chr1:184917355..184922277-chr1:184922901..184925530,6	K562	blood:
3	chr1:184917230..184920662-chr1:184941615..184944005,3	K562	blood:
4	chr1:184917902..184920737-chr1:184928155..184930741,2	K562	blood:

Variant related genes	Relation type
ENSG00000135842	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2135736	0.84[EUR][1000 genomes]
rs234110	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56098980	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58512974	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73054649	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73054655	0.84[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184898000-184926200	Weak transcription	Spleen	Spleen
2	chr1:184905600-184923200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:184905800-184921800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:184905800-184923200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:184905800-184940200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:184907200-184920200	Weak transcription	Pancreas	Pancrea
7	chr1:184907400-184938000	Weak transcription	Gastric	stomach
8	chr1:184909400-184927200	Weak transcription	Psoas Muscle	Psoas
9	chr1:184913600-184922200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:184913800-184922800	Weak transcription	K562	blood
11	chr1:184914000-184928200	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:184914200-184923400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:184914400-184921000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:184914400-184922200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:184914800-184921800	Weak transcription	NHEK	skin
16	chr1:184915000-184921400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:184915600-184922600	Weak transcription	Osteobl	bone
18	chr1:184915600-184928000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:184915800-184922600	Weak transcription	NHDF-Ad	bronchial
20	chr1:184915800-184940800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:184916600-184926000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:184917000-184920200	Weak transcription	Left Ventricle	heart
23	chr1:184917000-184920200	Weak transcription	Right Atrium	heart
24	chr1:184917000-184920400	Weak transcription	Aorta	Aorta
25	chr1:184917000-184922400	Weak transcription	Hela-S3	cervix
26	chr1:184917000-184923200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:184917000-184923200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:184917000-184923600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:184917000-184925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:184917000-184940200	Weak transcription	Esophagus	oesophagus
31	chr1:184917200-184921200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:184917200-184922600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:184917200-184923400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:184917200-184923600	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:184917200-184924400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:184917200-184937400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr1:184917400-184920600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:184917600-184919000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:184917600-184919200	Weak transcription	Fetal Heart	heart
40	chr1:184917600-184922800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr1:184918000-184922400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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