Variant report

Variant	rs12273690
Chromosome Location	chr11:93884002-93884003
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93861121..93863513-chr11:93882964..93886089,4	K562	blood:
2	chr11:93875120..93879114-chr11:93880737..93884211,6	K562	blood:
3	chr11:93877656..93879395-chr11:93882351..93886074,3	MCF-7	breast:
4	chr11:93883205..93885186-chr9:20620722..20622616,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171843	Chromatin interaction
ENSG00000110218	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10160353	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020659	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020665	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11499643	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11603543	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11607757	0.94[EUR][1000 genomes]
rs4593973	0.96[EUR][1000 genomes]
rs56157454	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56175344	0.94[EUR][1000 genomes]
rs57562692	0.98[EUR][1000 genomes]
rs6483298	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7117339	0.97[EUR][1000 genomes]
rs7129505	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72970792	0.98[EUR][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	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv469980	chr11:93864321-93962121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv468795	chr11:93864321-93964917	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv555966	chr11:93864321-93964917	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv517664	chr11:93866147-93913036	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12273690	HEPHL1	cis	Artery Tibial	GTEx
rs12273690	HEPHL1	cis	Artery Aorta	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93868200-93886600	Weak transcription	Fetal Brain Female	brain
2	chr11:93873800-93887200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:93875800-93884400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:93876200-93884400	Weak transcription	HSMMtube	muscle
5	chr11:93876200-93885200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:93876400-93884400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:93876600-93884200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:93876800-93884200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:93879200-93884200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr11:93879400-93885000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:93879800-93885000	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:93880000-93885000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:93880000-93885200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:93880200-93886400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:93880400-93886400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:93880600-93886200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:93880800-93886200	Enhancers	HMEC	breast
18	chr11:93880800-93886600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:93880800-93887400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:93881000-93884600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:93881000-93886600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:93881000-93888000	Enhancers	Fetal Intestine Large	intestine
23	chr11:93881200-93885000	Enhancers	Hela-S3	cervix
24	chr11:93881200-93886800	Enhancers	NHLF	lung
25	chr11:93881200-93887000	Weak transcription	Ovary	ovary
26	chr11:93881400-93885200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:93881400-93887000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:93881400-93887000	Weak transcription	Dnd41	blood
29	chr11:93881400-93887600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:93881400-93889000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:93881600-93885000	Enhancers	NH-A	brain
32	chr11:93881800-93884600	Enhancers	Fetal Thymus	thymus
33	chr11:93881800-93885000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:93882000-93885600	Enhancers	Fetal Muscle Leg	muscle
35	chr11:93882000-93886200	Enhancers	HUVEC	blood vessel
36	chr11:93882000-93886400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:93882000-93886400	Enhancers	Small Intestine	intestine
38	chr11:93882000-93886600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:93882000-93886600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr11:93882200-93884200	Enhancers	Psoas Muscle	Psoas
41	chr11:93882200-93884400	Enhancers	Right Atrium	heart
42	chr11:93882200-93886000	Enhancers	HSMM	muscle
43	chr11:93882200-93886200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr11:93882400-93884200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr11:93882400-93884200	Genic enhancers	Fetal Intestine Small	intestine
46	chr11:93882400-93884200	Enhancers	Fetal Muscle Trunk	muscle
47	chr11:93882400-93884400	Enhancers	Left Ventricle	heart
48	chr11:93882400-93884400	Enhancers	Right Ventricle	heart
49	chr11:93882400-93884800	Enhancers	Fetal Lung	lung
50	chr11:93882400-93886200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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