Variant report

Variant	rs11112091
Chromosome Location	chr12:104920420-104920421
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	chr12:104919275..104922640-chr12:104923988..104926677,3	K562	blood:
2	chr12:104919574..104922787-chr12:104926132..104929881,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11112093	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs11112100	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367118	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368888	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035717	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036834	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036836	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61940019	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61940020	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11112091	SIK2	trans	cerebellum	SCAN
rs11112091	GNN	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104908600-104920600	Weak transcription	Right Ventricle	heart
2	chr12:104911000-104921800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:104914000-104921200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:104915600-104936600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:104916600-104923000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:104916800-104920600	Enhancers	Colon Smooth Muscle	Colon
7	chr12:104917200-104925800	Weak transcription	Lung	lung
8	chr12:104917600-104921200	Enhancers	K562	blood
9	chr12:104917600-104924600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:104917800-104921000	Weak transcription	Right Atrium	heart
11	chr12:104917800-104922600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:104917800-104922600	Weak transcription	NHEK	skin
13	chr12:104917800-104922800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:104917800-104928200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:104918000-104934200	Weak transcription	A549	lung
16	chr12:104918200-104921400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:104918200-104928200	Weak transcription	Osteobl	bone
18	chr12:104918200-104928400	Weak transcription	Ovary	ovary
19	chr12:104918400-104920600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:104918400-104920800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:104918400-104921200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:104918400-104921200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:104918400-104927400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:104918400-104928200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:104918600-104920600	Weak transcription	Left Ventricle	heart
26	chr12:104918600-104920600	Weak transcription	Pancreas	Pancrea
27	chr12:104918600-104920800	Weak transcription	Dnd41	blood
28	chr12:104918600-104921000	Weak transcription	Gastric	stomach
29	chr12:104918600-104925400	Weak transcription	Spleen	Spleen
30	chr12:104918600-104926600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:104918600-104926800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr12:104918600-104927600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:104918800-104921000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:104918800-104921000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:104918800-104921200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:104919000-104921400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:104919200-104920800	Weak transcription	Fetal Heart	heart
38	chr12:104919200-104921200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:104919200-104923800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:104919200-104925600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:104919200-104935000	Weak transcription	Primary T cells from cord blood	blood
42	chr12:104919400-104920600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:104919400-104926000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:104919400-104928000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:104919600-104920800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:104919600-104921000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:104919600-104921200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:104919800-104920600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:104920000-104920800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr12:104920000-104921400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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