Variant report

Variant	rs10790371
Chromosome Location	chr11:120111041-120111042
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
2	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
3	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
4	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2465653	0.81[EUR][1000 genomes]
rs2465654	0.82[EUR][1000 genomes]
rs2847497	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2847500	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2953362	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10790371	POU2F3	cis	Adipose Subcutaneous	GTEx
rs10790371	POU2F3	cis	Stomach	GTEx
rs10790371	POU2F3	cis	Esophagus Muscularis	GTEx
rs10790371	POU2F3	cis	Nerve Tibial	GTEx
rs10790371	POU2F3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120110000-120111200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:120110400-120111200	Bivalent Enhancer	Brain Germinal Matrix	brain
3	chr11:120110400-120111200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr11:120110400-120111600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:120110400-120111600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:120110400-120111600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr11:120110400-120111600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:120110400-120111600	Bivalent Enhancer	Fetal Brain Male	brain
9	chr11:120110400-120112000	Enhancers	Pancreas	Pancrea
10	chr11:120110600-120111200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:120110600-120111200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:120110600-120111400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:120110600-120111400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:120110600-120111400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr11:120110600-120111400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:120110800-120111200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:120110800-120111200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:120110800-120111200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr11:120110800-120111200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
20	chr11:120110800-120111200	Enhancers	Ovary	ovary
21	chr11:120110800-120111200	Flanking Active TSS	Right Atrium	heart
22	chr11:120110800-120111200	Flanking Active TSS	Right Ventricle	heart
23	chr11:120110800-120111400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr11:120110800-120111600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr11:120111000-120111200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr11:120111000-120111200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:120111000-120111200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:120111000-120111200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr11:120111000-120111200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:120111000-120111200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:120111000-120111200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:120111000-120111200	Enhancers	Liver	Liver
33	chr11:120111000-120111200	Bivalent Enhancer	Brain Anterior Caudate	brain
34	chr11:120111000-120111200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
35	chr11:120111000-120111200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr11:120111000-120111200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
37	chr11:120111000-120111200	Bivalent Enhancer	Fetal Heart	heart
38	chr11:120111000-120111200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
39	chr11:120111000-120111200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
40	chr11:120111000-120111200	Flanking Bivalent TSS/Enh	Placenta	Placenta
41	chr11:120111000-120111200	Bivalent Enhancer	Fetal Stomach	stomach
42	chr11:120111000-120111200	Bivalent Enhancer	Left Ventricle	heart
43	chr11:120111000-120111200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr11:120111000-120111200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr11:120111000-120111200	Flanking Bivalent TSS/Enh	HMEC	breast
46	chr11:120111000-120111200	Flanking Bivalent TSS/Enh	NHEK	skin
47	chr11:120111000-120111400	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr11:120111000-120111600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:120111000-120111600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:120111000-120111600	Bivalent Enhancer	Esophagus	oesophagus

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