Variant report

Variant	rs12774718
Chromosome Location	chr10:27540647-27540648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:27540636-27540684	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27442115..27444569-chr10:27537853..27541412,3	K562	blood:
2	chr10:27529521..27534854-chr10:27538591..27544292,11	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACBD5-1	chr10:27534782-27541235	NR_003525
2	lnc-ACBD5-1	chr10:27540230-27540724	NONHSAT011895

No data

Variant related genes	Relation type
LRRC37A6P	TF binding region
ENSG00000136758	Chromatin interaction
ENSG00000120539	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000262412	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10829217	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10829218	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11015624	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015628	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11812283	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11812740	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11818418	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12260818	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12262209	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12264871	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12415447	0.93[ASN][1000 genomes]
rs12775195	0.83[ASN][1000 genomes]
rs12775838	0.88[ASN][1000 genomes]
rs16916444	0.93[ASN][1000 genomes]
rs17748862	0.88[ASN][1000 genomes]
rs1930960	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2027538	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34983424	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35053986	0.83[ASN][1000 genomes]
rs35931272	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3818969	0.83[AFR][1000 genomes]
rs4747592	1.00[ASN][1000 genomes]
rs4747594	1.00[ASN][1000 genomes]
rs55770293	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56207199	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56313380	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56406502	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61149145	1.00[ASN][1000 genomes]
rs67395401	0.88[ASN][1000 genomes]
rs73598052	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7918793	1.00[ASN][1000 genomes]
rs7919198	1.00[ASN][1000 genomes]
rs7919807	1.00[ASN][1000 genomes]
rs7920681	0.82[AFR][1000 genomes];1.00[ASN][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	chr10:27532600-27541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:27532600-27541200	Weak transcription	Esophagus	oesophagus
3	chr10:27532600-27541200	Weak transcription	Pancreas	Pancrea
4	chr10:27532600-27541200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:27532800-27541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr10:27532800-27541000	Weak transcription	Adipose Nuclei	Adipose
7	chr10:27532800-27541200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr10:27532800-27541200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:27532800-27541200	Weak transcription	Right Ventricle	heart
10	chr10:27533000-27541000	Weak transcription	Hela-S3	cervix
11	chr10:27533000-27541200	Weak transcription	Primary T cells from cord blood	blood
12	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:27533000-27541200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:27533000-27541200	Weak transcription	Brain Substantia Nigra	brain
16	chr10:27533000-27541200	Weak transcription	Fetal Kidney	kidney
17	chr10:27536400-27541200	Weak transcription	Fetal Intestine Large	intestine
18	chr10:27536400-27541200	Weak transcription	Fetal Intestine Small	intestine
19	chr10:27537200-27541200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:27537200-27541200	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:27537200-27541200	Weak transcription	Right Atrium	heart
22	chr10:27537200-27541400	Weak transcription	Psoas Muscle	Psoas
23	chr10:27538000-27541200	Weak transcription	Left Ventricle	heart
24	chr10:27538000-27541200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr10:27538000-27547200	Weak transcription	Fetal Heart	heart
26	chr10:27538200-27541000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr10:27540000-27540800	Weak transcription	K562	blood
28	chr10:27540400-27541200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:27540600-27541800	Enhancers	Spleen	Spleen

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