Variant report

Variant	rs12091993
Chromosome Location	chr1:10048119-10048120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs41280792	0.92[EUR][1000 genomes]
rs72861412	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12091993	LZIC	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10021600-10049000	Weak transcription	HSMM	muscle
2	chr1:10028400-10050000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:10032800-10057000	Weak transcription	Psoas Muscle	Psoas
4	chr1:10035600-10051800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:10036000-10050400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:10036800-10051200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:10037200-10054600	Weak transcription	Fetal Brain Female	brain
8	chr1:10039400-10050800	Weak transcription	Colonic Mucosa	Colon
9	chr1:10039600-10048200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:10039600-10053600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:10041000-10049200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:10042600-10048800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:10042600-10050200	Weak transcription	Lung	lung
14	chr1:10042600-10050800	Weak transcription	GM12878-XiMat	blood
15	chr1:10042600-10053800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:10042800-10048600	Weak transcription	Thymus	Thymus
17	chr1:10042800-10049800	Weak transcription	Placenta	Placenta
18	chr1:10042800-10049800	Weak transcription	Right Ventricle	heart
19	chr1:10042800-10050200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:10042800-10050600	Weak transcription	Pancreas	Pancrea
21	chr1:10042800-10050800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:10042800-10051200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:10042800-10051200	Weak transcription	HSMMtube	muscle
24	chr1:10042800-10051600	Weak transcription	Fetal Thymus	thymus
25	chr1:10042800-10051600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:10042800-10053000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:10042800-10055600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:10042800-10056600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:10042800-10057200	Weak transcription	Gastric	stomach
30	chr1:10043000-10050400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:10043000-10050600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:10044200-10049600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:10044200-10049600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:10044200-10050000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:10044200-10050000	Weak transcription	Left Ventricle	heart
36	chr1:10044200-10050400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:10044200-10050400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:10044200-10050600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:10044200-10050800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:10044400-10049800	Weak transcription	Spleen	Spleen
41	chr1:10044400-10050200	Weak transcription	Primary T cells from cord blood	blood
42	chr1:10044600-10049600	Weak transcription	Adipose Nuclei	Adipose
43	chr1:10044600-10050000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:10044600-10050800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:10044600-10054800	Weak transcription	Fetal Intestine Large	intestine
46	chr1:10044800-10048400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:10044800-10048600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:10044800-10051000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:10044800-10056000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:10045000-10048800	Weak transcription	Brain Anterior Caudate	brain

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