Variant report

Variant	rs12470144
Chromosome Location	chr2:210913067-210913068
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	chr2:210910340..210914664-chr2:210915151..210918524,3	K562	blood:
2	chr2:210891596..210893327-chr2:210910943..210913488,2	K562	blood:

Variant related genes	Relation type
ENSG00000272807	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3738934	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55996099	0.93[ASN][1000 genomes]
rs7585265	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12470144	FLJ23861	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210868000-210920000	Weak transcription	Spleen	Spleen
2	chr2:210874000-210920800	Weak transcription	Fetal Heart	heart
3	chr2:210881800-210953000	Weak transcription	Gastric	stomach
4	chr2:210882400-210914600	Weak transcription	Small Intestine	intestine
5	chr2:210882400-210919400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:210882400-210922800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:210882400-210927800	Weak transcription	Right Ventricle	heart
8	chr2:210883000-210920600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:210885200-210914400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:210887800-210919600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:210888000-210913400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:210889000-210919400	Weak transcription	HSMMtube	muscle
13	chr2:210889000-210920200	Weak transcription	Fetal Brain Male	brain
14	chr2:210889000-210925600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:210889200-210913400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:210889200-210913400	Weak transcription	NH-A	brain
17	chr2:210890000-210919200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:210891000-210915000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:210891000-210927800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:210891400-210918800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:210893400-210939000	Weak transcription	Brain Substantia Nigra	brain
22	chr2:210894000-210969400	Weak transcription	Fetal Kidney	kidney
23	chr2:210897000-210917000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:210899600-210919200	Weak transcription	Brain Anterior Caudate	brain
25	chr2:210902400-210919200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:210904200-210919400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:210905200-210914600	Weak transcription	Brain Angular Gyrus	brain
28	chr2:210905600-210917400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:210905800-210914400	Weak transcription	HSMM	muscle
30	chr2:210907200-210919200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:210907400-210913200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:210907400-210913600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:210908200-210914400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:210908600-210917400	Weak transcription	Liver	Liver
35	chr2:210908800-210914600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:210908800-210919200	Weak transcription	Adipose Nuclei	Adipose
37	chr2:210911200-210913200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:210911400-210913200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr2:210911600-210917800	Weak transcription	Fetal Thymus	thymus
40	chr2:210911600-210925000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:210911600-210928000	Weak transcription	Primary T cells from cord blood	blood
42	chr2:210911600-210980800	Weak transcription	Pancreas	Pancrea
43	chr2:210911800-210914600	Weak transcription	Psoas Muscle	Psoas
44	chr2:210911800-210917400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:210911800-210917600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:210911800-210918200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:210911800-210919000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:210911800-210919200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:210911800-210919400	Weak transcription	Fetal Stomach	stomach
50	chr2:210911800-210919600	Weak transcription	Ovary	ovary

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