Variant report

Variant	rs11834651
Chromosome Location	chr12:59315750-59315751
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	chr12:59308294..59310452-chr12:59314472..59316153,2	K562	blood:

Variant related genes	Relation type
ENSG00000139263	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7966785	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11834651	PFDN5	cis	parietal	SCAN
rs11834651	MBD6	cis	cerebellum	SCAN
rs11834651	ESPL1	cis	cerebellum	SCAN
rs11834651	PIP4K2C	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59313400-59317200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:59314400-59316400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:59314400-59318200	Weak transcription	Small Intestine	intestine
4	chr12:59314600-59317200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:59314800-59315800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:59314800-59319000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:59315000-59316600	Weak transcription	NH-A	brain
8	chr12:59315000-59316600	Weak transcription	NHDF-Ad	bronchial
9	chr12:59315000-59318400	Weak transcription	Fetal Heart	heart
10	chr12:59315000-59318800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:59315000-59318800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:59315000-59319200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:59315200-59316200	Weak transcription	Hela-S3	cervix
14	chr12:59315200-59316400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:59315200-59316400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:59315200-59316400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:59315200-59316400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:59315200-59316600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:59315200-59316600	Weak transcription	A549	lung
20	chr12:59315200-59316600	Weak transcription	Osteobl	bone
21	chr12:59315200-59317000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:59315200-59320200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr12:59315400-59315800	Weak transcription	Colonic Mucosa	Colon
24	chr12:59315400-59316600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:59315400-59316600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:59315400-59316600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:59315400-59316600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:59315400-59316600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:59315400-59316600	Weak transcription	Stomach Mucosa	stomach
30	chr12:59315400-59316800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:59315400-59316800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:59315400-59318600	Weak transcription	Fetal Lung	lung
33	chr12:59315400-59320200	Enhancers	Fetal Intestine Large	intestine
34	chr12:59315400-59320800	Enhancers	Fetal Intestine Small	intestine
35	chr12:59315400-59320800	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:59315600-59316000	Weak transcription	HUVEC	blood vessel
37	chr12:59315600-59316600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:59315600-59316600	Weak transcription	Pancreas	Pancrea
39	chr12:59315600-59316600	Weak transcription	HMEC	breast
40	chr12:59315600-59316600	Weak transcription	NHEK	skin
41	chr12:59315600-59318800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:59315600-59318800	Weak transcription	Liver	Liver
43	chr12:59315600-59318800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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