Variant report

Variant	rs11112215
Chromosome Location	chr12:105259636-105259637
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	chr12:104581580..104584541-chr12:105258858..105261291,2	K562	blood:
2	chr12:105257620..105260292-chr12:105262517..105265546,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10507189	0.82[CEU][hapmap]
rs10861279	0.80[CEU][hapmap]
rs10861284	0.80[CEU][hapmap]
rs10861285	0.80[CEU][hapmap]
rs10861289	0.82[CEU][hapmap]
rs10861290	0.80[CEU][hapmap]
rs11112204	1.00[AFR][1000 genomes]
rs11112211	0.80[CEU][hapmap]
rs11112213	0.80[CEU][hapmap]
rs11112214	0.80[CEU][hapmap]
rs11112216	0.80[CEU][hapmap]
rs11112226	0.80[CEU][hapmap]
rs11112244	0.82[CEU][hapmap]
rs11112247	0.82[CEU][hapmap]
rs11112262	0.80[CEU][hapmap]
rs2047128	0.82[CEU][hapmap]

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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11112215	SLC41A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105220800-105260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:105238400-105260400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:105238400-105280000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:105243800-105265800	Weak transcription	Fetal Stomach	stomach
5	chr12:105248000-105269000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:105257000-105260000	Enhancers	NHDF-Ad	bronchial
7	chr12:105257000-105260600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:105257000-105260800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:105257000-105260800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:105257000-105261400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:105257600-105260000	Weak transcription	HSMMtube	muscle
12	chr12:105257600-105260400	Enhancers	Hela-S3	cervix
13	chr12:105257800-105259800	Weak transcription	NH-A	brain
14	chr12:105258200-105260000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:105258400-105260000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:105258600-105259800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:105258600-105259800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:105258600-105260000	Enhancers	GM12878-XiMat	blood
19	chr12:105258600-105260800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:105258800-105260200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:105259000-105259800	Enhancers	Dnd41	blood
22	chr12:105259200-105260000	Weak transcription	A549	lung
23	chr12:105259200-105263800	Weak transcription	Aorta	Aorta
24	chr12:105259200-105264400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:105259400-105259800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:105259400-105277800	Weak transcription	Pancreas	Pancrea
27	chr12:105259600-105260200	Weak transcription	Liver	Liver
28	chr12:105259600-105260200	Enhancers	Osteobl	bone

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