Variant report

Variant	rs11207811
Chromosome Location	chr1:62165212-62165213
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:62165130-62165363	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62164919..62167340-chr1:62169728..62172685,2	MCF-7	breast:

Variant related genes	Relation type
TM2D1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1151762	0.87[YRI][hapmap]
rs1151775	0.87[YRI][hapmap]
rs12026380	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12031230	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12404858	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17122681	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1779267	0.87[YRI][hapmap]
rs6675491	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11207811	TM2D1	cis	cerebellum	SCAN
rs11207811	ITGB3BP	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62136800-62173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:62138800-62189600	Weak transcription	Psoas Muscle	Psoas
3	chr1:62140000-62189000	Weak transcription	NHLF	lung
4	chr1:62142800-62172200	Weak transcription	Ovary	ovary
5	chr1:62142800-62188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:62143800-62165600	Weak transcription	Stomach Mucosa	stomach
7	chr1:62143800-62170200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:62144600-62165600	Weak transcription	HepG2	liver
9	chr1:62145000-62172200	Weak transcription	Colonic Mucosa	Colon
10	chr1:62145200-62167400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:62146200-62190200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:62146400-62166000	Weak transcription	Brain Angular Gyrus	brain
13	chr1:62146600-62166000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:62147600-62173400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:62150200-62165600	Weak transcription	Small Intestine	intestine
16	chr1:62152400-62175200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:62154400-62165600	Weak transcription	HMEC	breast
18	chr1:62154800-62171600	Weak transcription	Fetal Heart	heart
19	chr1:62155400-62167400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:62155400-62167800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:62155400-62167800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr1:62155400-62169000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:62158600-62189800	Weak transcription	Pancreas	Pancrea
24	chr1:62159200-62167400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:62159200-62167600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:62159200-62167600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:62159200-62167600	Strong transcription	Adipose Nuclei	Adipose
28	chr1:62159200-62167800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:62159400-62165600	Strong transcription	Liver	Liver
30	chr1:62159400-62165600	Weak transcription	A549	lung
31	chr1:62159400-62168600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:62160800-62167600	Strong transcription	HUVEC	blood vessel
33	chr1:62161000-62166800	Strong transcription	Fetal Thymus	thymus
34	chr1:62161200-62167400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:62161200-62167600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:62161200-62180600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:62161600-62165600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:62161600-62166800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:62161600-62167600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:62161600-62167800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:62161600-62168400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:62161800-62179200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:62162200-62165600	Strong transcription	Fetal Intestine Large	intestine
44	chr1:62162200-62166200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:62162200-62166600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:62162200-62166600	Strong transcription	Left Ventricle	heart
47	chr1:62162200-62167400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:62162200-62167400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:62162200-62167800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:62162200-62167800	Strong transcription	Osteobl	bone

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