Variant report

Variant	rs12711737
Chromosome Location	chr2:113015687-113015688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113013729..113015547-chr2:113015611..113017197,2	K562	blood:
2	chr2:113010163..113016150-chr2:113027955..113035093,25	K562	blood:
3	chr2:113015323..113017823-chr2:113341414..113343935,3	K562	blood:
4	chr2:113012803..113017644-chr2:113018976..113023020,5	K562	blood:
5	chr2:113009620..113015521-chr2:113015637..113020562,9	K562	blood:
6	chr2:113015328..113018702-chr2:113341013..113343935,4	K562	blood:
7	chr2:112813000..112815261-chr2:113015574..113017538,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144161	Chromatin interaction
ENSG00000153214	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000238951	Chromatin interaction
ENSG00000188177	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10169159	0.93[ASN][1000 genomes]
rs10175234	0.85[ASN][1000 genomes]
rs10177573	0.89[ASN][1000 genomes]
rs10183121	0.87[ASN][1000 genomes]
rs10205038	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11123132	0.82[AMR][1000 genomes]
rs11674953	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11688418	0.94[ASN][1000 genomes]
rs11689487	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11691431	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11691794	0.94[ASN][1000 genomes]
rs12711738	0.93[ASN][1000 genomes]
rs34623958	0.93[ASN][1000 genomes]
rs4392265	0.89[ASN][1000 genomes]
rs4446076	0.89[ASN][1000 genomes]
rs4849056	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4849057	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542045	0.99[ASN][1000 genomes]
rs6542048	0.88[ASN][1000 genomes]
rs6542050	0.89[ASN][1000 genomes]
rs6706874	0.93[ASN][1000 genomes]
rs6716010	0.87[ASN][1000 genomes]
rs6745942	0.89[ASN][1000 genomes]
rs71414636	0.81[ASN][1000 genomes]
rs72831684	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7557281	0.86[ASN][1000 genomes]
rs7571435	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7601888	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv582703	chr2:112920219-113100014	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv874867	chr2:112930064-113038409	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv1805614	chr2:112949713-113048705	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12711737	RGPD4///RGPD5///RGPD6///RGPD8	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113012600-113016800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:113012600-113016800	Weak transcription	Fetal Heart	heart
3	chr2:113012600-113017200	Weak transcription	Stomach Mucosa	stomach
4	chr2:113012800-113017000	Weak transcription	Spleen	Spleen
5	chr2:113012800-113017200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:113013000-113016800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:113013000-113016800	Weak transcription	Fetal Kidney	kidney
8	chr2:113013000-113017000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:113013000-113017000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:113013000-113017000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:113013000-113017000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:113013000-113017000	Weak transcription	Fetal Lung	lung
13	chr2:113013000-113017000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:113013000-113017000	Weak transcription	Psoas Muscle	Psoas
15	chr2:113013000-113017000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:113013000-113017000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:113013000-113017000	Weak transcription	HMEC	breast
18	chr2:113013000-113017000	Weak transcription	NH-A	brain
19	chr2:113013000-113017000	Weak transcription	NHDF-Ad	bronchial
20	chr2:113013000-113017000	Weak transcription	NHEK	skin
21	chr2:113013000-113017000	Weak transcription	NHLF	lung
22	chr2:113013000-113017200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:113013000-113017200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:113013000-113017200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:113013000-113017200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:113013000-113017200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:113013000-113017200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:113013000-113017200	Weak transcription	Pancreas	Pancrea
29	chr2:113013000-113017400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:113013000-113018200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:113013000-113018200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:113013200-113016200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:113013200-113016800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:113013200-113016800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:113013200-113016800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:113013200-113017000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:113013200-113017000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:113013200-113017000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:113013200-113017000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:113013200-113017000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:113013200-113017000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:113013200-113017000	Weak transcription	Liver	Liver
43	chr2:113013200-113017000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:113013200-113017000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:113013200-113017000	Weak transcription	Left Ventricle	heart
46	chr2:113013200-113017000	Weak transcription	Ovary	ovary
47	chr2:113013200-113017200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:113013200-113017200	Weak transcription	Hela-S3	cervix
49	chr2:113013400-113016800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:113013400-113016800	Weak transcription	Brain Anterior Caudate	brain

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