Variant report

Variant	rs58400860
Chromosome Location	chr5:177635440-177635441
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177545145..177547766-chr5:177633548..177635586,2	K562	blood:
2	chr5:177633748..177635466-chr5:177877015..177878524,2	K562	blood:
3	chr5:177634469..177636914-chr5:178050072..178052973,2	K562	blood:
4	chr17:75282717..75283709-chr5:177635068..177635900,2	Hela-S3	cervix:
5	chr5:177561649..177563413-chr5:177634433..177636302,2	K562	blood:

Variant related genes	Relation type
ENSG00000113240	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55654425	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55985743	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9329139	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
5	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177632600-177635600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
2	chr5:177632600-177636200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
3	chr5:177632600-177636600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
4	chr5:177633000-177643000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:177633400-177636000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:177633400-177636200	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr5:177633400-177636600	Genic enhancers	Gastric	stomach
8	chr5:177633600-177635600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
9	chr5:177633600-177635800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr5:177633600-177635800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:177633600-177636000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:177633600-177636200	Genic enhancers	Fetal Muscle Leg	muscle
13	chr5:177633600-177639600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:177633600-177643200	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr5:177633600-177644000	Genic enhancers	Fetal Intestine Large	intestine
16	chr5:177633800-177635800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:177633800-177635800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
18	chr5:177633800-177636600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
19	chr5:177633800-177640000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:177633800-177641600	Strong transcription	Primary B cells from cord blood	blood
21	chr5:177633800-177642600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr5:177633800-177643400	Genic enhancers	Fetal Intestine Small	intestine
23	chr5:177633800-177643600	Strong transcription	Aorta	Aorta
24	chr5:177633800-177644000	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr5:177634000-177643800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:177634000-177644000	Strong transcription	Rectal Smooth Muscle	rectum
27	chr5:177634000-177650800	Strong transcription	Placenta	Placenta
28	chr5:177634200-177635600	Genic enhancers	HSMM	muscle
29	chr5:177634200-177636000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:177634200-177640600	Strong transcription	HSMMtube	muscle
31	chr5:177634200-177643000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:177634200-177644000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:177634400-177636400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr5:177634400-177637400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:177634400-177643200	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr5:177634400-177643600	Strong transcription	Brain Angular Gyrus	brain
37	chr5:177634400-177643800	Strong transcription	Colon Smooth Muscle	Colon
38	chr5:177634400-177654200	Strong transcription	Fetal Stomach	stomach
39	chr5:177634600-177635800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:177634600-177635800	Weak transcription	Small Intestine	intestine
41	chr5:177634600-177636200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:177634600-177637600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:177634600-177640200	Strong transcription	Brain Hippocampus Middle	brain
44	chr5:177634600-177641600	Strong transcription	Fetal Brain Male	brain
45	chr5:177634600-177642400	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr5:177634600-177643000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:177634600-177643200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:177634600-177643600	Strong transcription	Brain Cingulate Gyrus	brain
49	chr5:177634600-177644200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr5:177634600-177644400	Strong transcription	Fetal Lung	lung

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