Variant report

Variant	rs12245194
Chromosome Location	chr10:27537019-27537020
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	chr10:27529615..27533136-chr10:27533477..27538101,8	K562	blood:
2	chr10:27536677..27538349-chr10:27539935..27542436,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACBD5-1	chr10:27534782-27541235	NR_003525

Variant related genes	Relation type
ENSG00000230445	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000262412	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11015621	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11015622	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12241100	0.92[AMR][1000 genomes]
rs12242277	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12242335	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12243561	0.92[AMR][1000 genomes]
rs12245061	0.92[AMR][1000 genomes]
rs12246444	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12247766	0.92[AMR][1000 genomes]
rs12247836	0.92[AMR][1000 genomes]
rs12249238	0.92[AMR][1000 genomes]
rs12250812	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12256490	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12258518	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12262528	0.92[AMR][1000 genomes]
rs12262595	0.84[AMR][1000 genomes]
rs12265111	0.92[AMR][1000 genomes]
rs12268202	0.92[AMR][1000 genomes]
rs16927614	0.92[AMR][1000 genomes]
rs1819351	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs1985042	0.92[AMR][1000 genomes]
rs3938775	0.92[AMR][1000 genomes]
rs7074378	0.92[AMR][1000 genomes]
rs7079339	0.84[AMR][1000 genomes]
rs7096132	0.92[AMR][1000 genomes]
rs7904085	0.92[AMR][1000 genomes]
rs7904245	0.92[AMR][1000 genomes]
rs7907587	0.92[AMR][1000 genomes]
rs7910237	0.92[AMR][1000 genomes]
rs7910765	0.92[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	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv947786	chr10:27535141-27541912	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27532600-27540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:27532600-27541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:27532600-27541200	Weak transcription	Esophagus	oesophagus
4	chr10:27532600-27541200	Weak transcription	Pancreas	Pancrea
5	chr10:27532600-27541200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:27532800-27541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr10:27532800-27541000	Weak transcription	Adipose Nuclei	Adipose
8	chr10:27532800-27541200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr10:27532800-27541200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:27532800-27541200	Weak transcription	Right Ventricle	heart
11	chr10:27533000-27541000	Weak transcription	Hela-S3	cervix
12	chr10:27533000-27541200	Weak transcription	Primary T cells from cord blood	blood
13	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:27533000-27541200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr10:27533000-27541200	Weak transcription	Brain Substantia Nigra	brain
17	chr10:27533000-27541200	Weak transcription	Fetal Kidney	kidney
18	chr10:27535400-27537200	Enhancers	Left Ventricle	heart
19	chr10:27536400-27537200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr10:27536400-27537200	Enhancers	Fetal Muscle Leg	muscle
21	chr10:27536400-27537200	Enhancers	Psoas Muscle	Psoas
22	chr10:27536400-27537200	Enhancers	Right Atrium	heart
23	chr10:27536400-27538000	Enhancers	Fetal Heart	heart
24	chr10:27536400-27538000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr10:27536400-27541200	Weak transcription	Fetal Intestine Large	intestine
26	chr10:27536400-27541200	Weak transcription	Fetal Intestine Small	intestine
27	chr10:27537000-27538200	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links