Variant report

Variant	rs2356066
Chromosome Location	chr7:12279833-12279834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10488192	0.82[EUR][1000 genomes]
rs11974384	0.92[ASN][1000 genomes]
rs11983898	0.95[EUR][1000 genomes]
rs12666249	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs14978	0.97[ASN][1000 genomes]
rs16877363	0.80[EUR][1000 genomes]
rs2043538	0.92[ASN][1000 genomes]
rs2043540	0.86[EUR][1000 genomes]
rs2160267	0.97[EUR][1000 genomes]
rs4424141	0.98[EUR][1000 genomes]
rs58759116	0.82[EUR][1000 genomes]
rs6967026	0.95[EUR][1000 genomes]
rs929637	0.98[EUR][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	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription 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	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2356066	TMEM106B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12252000-12280000	Weak transcription	Colonic Mucosa	Colon
2	chr7:12252000-12280000	Weak transcription	Right Ventricle	heart
3	chr7:12252000-12285400	Weak transcription	Spleen	Spleen
4	chr7:12252400-12281600	Weak transcription	HSMMtube	muscle
5	chr7:12252400-12284000	Weak transcription	Fetal Intestine Small	intestine
6	chr7:12259800-12283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:12264200-12280000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:12264200-12280000	Weak transcription	Ovary	ovary
9	chr7:12270000-12284400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:12271800-12280000	Weak transcription	Osteobl	bone
11	chr7:12271800-12289000	Weak transcription	HSMM	muscle
12	chr7:12272400-12280000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:12274800-12280000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:12278000-12283800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:12278400-12280000	Weak transcription	Brain Anterior Caudate	brain
16	chr7:12278400-12280200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:12278400-12280200	Weak transcription	Left Ventricle	heart
18	chr7:12278400-12281000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:12278600-12280000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:12278600-12280200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:12278600-12280200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:12278600-12280200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:12278600-12284600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:12278800-12280000	Enhancers	Primary B cells from peripheral blood	blood
25	chr7:12278800-12280000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:12278800-12280000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr7:12278800-12280400	Weak transcription	Fetal Kidney	kidney
28	chr7:12278800-12280400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:12278800-12280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:12278800-12280600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr7:12278800-12283600	Weak transcription	A549	lung
32	chr7:12279000-12280600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:12279000-12282200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:12279000-12284400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:12279200-12280000	Enhancers	Primary B cells from cord blood	blood
36	chr7:12279200-12280000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:12279200-12280000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr7:12279200-12281000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:12279400-12280000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:12279400-12281000	Weak transcription	Adipose Nuclei	Adipose
41	chr7:12279400-12281800	Weak transcription	Placenta	Placenta
42	chr7:12279600-12280000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr7:12279800-12280000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr7:12279800-12283600	Weak transcription	Liver	Liver

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