Variant report

Variant	rs12258518
Chromosome Location	chr10:27536406-27536407
allele	C/T
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:

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

Variant related genes	Relation type
ENSG00000262412	Chromatin interaction
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10466099	0.83[AMR][1000 genomes]
rs11015593	0.83[AMR][1000 genomes]
rs11015594	0.83[AMR][1000 genomes]
rs11015621	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11015622	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12241100	1.00[AMR][1000 genomes]
rs12241557	0.83[AMR][1000 genomes]
rs12242277	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12242335	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12243561	1.00[AMR][1000 genomes]
rs12245061	1.00[AMR][1000 genomes]
rs12245194	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12246444	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12247766	1.00[AMR][1000 genomes]
rs12247836	1.00[AMR][1000 genomes]
rs12248381	0.83[AMR][1000 genomes]
rs12248625	0.83[AMR][1000 genomes]
rs12249238	1.00[AMR][1000 genomes]
rs12250812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12256490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12258652	0.83[AMR][1000 genomes]
rs12259598	0.87[AFR][1000 genomes]
rs12262528	1.00[AMR][1000 genomes]
rs12262595	0.91[AMR][1000 genomes]
rs12265111	1.00[AMR][1000 genomes]
rs12266154	0.83[AMR][1000 genomes]
rs12266661	0.83[AMR][1000 genomes]
rs12268202	1.00[AMR][1000 genomes]
rs12269297	0.83[AMR][1000 genomes]
rs16927590	0.83[AMR][1000 genomes]
rs16927614	1.00[AMR][1000 genomes]
rs1819351	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1985042	1.00[AMR][1000 genomes]
rs3938775	1.00[AMR][1000 genomes]
rs4581346	0.83[AMR][1000 genomes]
rs61700379	0.83[AMR][1000 genomes]
rs7068288	0.83[AMR][1000 genomes]
rs7073841	0.83[AMR][1000 genomes]
rs7074378	1.00[AMR][1000 genomes]
rs7079339	0.91[AMR][1000 genomes]
rs7081194	0.83[AMR][1000 genomes]
rs7086388	0.83[AMR][1000 genomes]
rs7096132	1.00[AMR][1000 genomes]
rs7897372	0.83[AMR][1000 genomes]
rs7904085	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7904245	1.00[AMR][1000 genomes]
rs7907587	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7910237	1.00[AMR][1000 genomes]
rs7910765	1.00[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:29 , 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	chr10:27532800-27536600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:27532800-27537000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:27532800-27541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:27532800-27541000	Weak transcription	Adipose Nuclei	Adipose
10	chr10:27532800-27541200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:27532800-27541200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr10:27532800-27541200	Weak transcription	Right Ventricle	heart
13	chr10:27533000-27541000	Weak transcription	Hela-S3	cervix
14	chr10:27533000-27541200	Weak transcription	Primary T cells from cord blood	blood
15	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:27533000-27541200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:27533000-27541200	Weak transcription	Brain Substantia Nigra	brain
19	chr10:27533000-27541200	Weak transcription	Fetal Kidney	kidney
20	chr10:27535200-27536800	Enhancers	HepG2	liver
21	chr10:27535400-27537200	Enhancers	Left Ventricle	heart
22	chr10:27536400-27537200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr10:27536400-27537200	Enhancers	Fetal Muscle Leg	muscle
24	chr10:27536400-27537200	Enhancers	Psoas Muscle	Psoas
25	chr10:27536400-27537200	Enhancers	Right Atrium	heart
26	chr10:27536400-27538000	Enhancers	Fetal Heart	heart
27	chr10:27536400-27538000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr10:27536400-27541200	Weak transcription	Fetal Intestine Large	intestine
29	chr10:27536400-27541200	Weak transcription	Fetal Intestine Small	intestine

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