Variant report

Variant	rs56262721
Chromosome Location	chr5:98269619-98269620
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:98261995..98270397-chr5:98280624..98292060,15	K562	blood:
2	chr5:98269258..98271296-chr5:98288726..98290603,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGMB-1	chr5:98264861-98270036	NONHSAT102968

Variant related genes	Relation type
ENSG00000241597	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs41300817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41300819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55677526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55693839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55704716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55769608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55845744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55877450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55899721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55905355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55914571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55932002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55976246	1.00[AFR][1000 genomes]
rs56017435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56053751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56100354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56133601	1.00[AFR][1000 genomes]
rs56174213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56197564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56321645	1.00[AFR][1000 genomes]
rs56328362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56365720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56381912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7701147	1.00[EUR][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	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv537818	chr5:98241627-98279192	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv537819	chr5:98253348-98299646	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98266000-98269800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:98266000-98271000	Weak transcription	Left Ventricle	heart
3	chr5:98266000-98272400	Weak transcription	Aorta	Aorta
4	chr5:98266000-98276400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:98266000-98276400	Weak transcription	Placenta	Placenta
6	chr5:98266200-98272600	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:98266200-98273200	Weak transcription	Right Ventricle	heart
8	chr5:98266200-98274200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:98266200-98283600	Weak transcription	Colonic Mucosa	Colon
10	chr5:98266400-98270400	Weak transcription	HSMMtube	muscle
11	chr5:98266400-98270600	Weak transcription	NH-A	brain
12	chr5:98266400-98270600	Weak transcription	NHLF	lung
13	chr5:98266400-98270800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:98266400-98271000	Weak transcription	Psoas Muscle	Psoas
15	chr5:98266400-98271200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:98266400-98271400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:98266400-98271400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr5:98266400-98272400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:98266400-98272600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:98266400-98273000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:98266400-98273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:98266400-98273400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:98266400-98276200	Weak transcription	Fetal Kidney	kidney
24	chr5:98266600-98270200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:98266600-98270200	Weak transcription	Osteobl	bone
26	chr5:98266600-98270400	Weak transcription	A549	lung
27	chr5:98266600-98270400	Weak transcription	HSMM	muscle
28	chr5:98266600-98270600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:98266600-98272000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:98266600-98273400	Weak transcription	NHDF-Ad	bronchial
31	chr5:98266600-98291400	Weak transcription	Brain Germinal Matrix	brain
32	chr5:98266800-98270400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:98266800-98270600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:98266800-98273200	Weak transcription	HUVEC	blood vessel
35	chr5:98266800-98274000	Weak transcription	Fetal Lung	lung
36	chr5:98266800-98277000	Weak transcription	HMEC	breast
37	chr5:98266800-98278400	Weak transcription	Hela-S3	cervix
38	chr5:98266800-98283200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr5:98267000-98269800	Weak transcription	Dnd41	blood
40	chr5:98267000-98274000	Weak transcription	Adipose Nuclei	Adipose
41	chr5:98267200-98269800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:98267200-98270200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:98267200-98270200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:98267200-98270600	Weak transcription	Fetal Brain Female	brain
45	chr5:98267200-98270800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:98267200-98272400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:98267400-98271000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:98267400-98271400	Enhancers	Primary B cells from peripheral blood	blood
49	chr5:98267400-98272600	Weak transcription	Fetal Intestine Small	intestine
50	chr5:98267400-98277800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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