Variant report

Variant	rs12739975
Chromosome Location	chr1:169967496-169967497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12023275	0.83[CEU][hapmap]
rs1330372	0.82[CEU][hapmap]
rs16862933	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs2050651	0.81[CEU][hapmap]
rs2152831	0.81[CEU][hapmap]
rs6673712	0.81[CEU][hapmap]
rs7517490	0.84[CEU][hapmap]
rs9426889	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1012520	chr1:169899427-169969444	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1010370	chr1:169917450-169980951	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12739975	C1orf112	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169904000-170010400	Weak transcription	Aorta	Aorta
2	chr1:169911800-169968400	Weak transcription	Psoas Muscle	Psoas
3	chr1:169912000-169968600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:169913800-169968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:169914000-169968400	Weak transcription	Ovary	ovary
6	chr1:169914600-169968000	Weak transcription	Fetal Stomach	stomach
7	chr1:169914800-169984000	Weak transcription	Left Ventricle	heart
8	chr1:169914800-169984800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:169914800-169988800	Weak transcription	Fetal Intestine Small	intestine
10	chr1:169921600-169968400	Weak transcription	Fetal Brain Male	brain
11	chr1:169922000-169984000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:169922200-169968400	Weak transcription	Brain Angular Gyrus	brain
13	chr1:169922400-169996400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:169930400-169968400	Weak transcription	Small Intestine	intestine
15	chr1:169935600-169968400	Weak transcription	Fetal Kidney	kidney
16	chr1:169938000-169968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:169939000-169968400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:169944800-169968000	Weak transcription	Brain Substantia Nigra	brain
19	chr1:169944800-169989600	Weak transcription	Thymus	Thymus
20	chr1:169945400-169968400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:169945800-169975000	Weak transcription	GM12878-XiMat	blood
22	chr1:169946400-169968400	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:169947000-169968000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:169947200-169968000	Weak transcription	Brain Anterior Caudate	brain
25	chr1:169948800-169968200	Weak transcription	HSMMtube	muscle
26	chr1:169949400-169968000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:169951200-169967800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:169951600-170011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:169951800-169975000	Weak transcription	Dnd41	blood
30	chr1:169951800-169975200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:169951800-169984800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:169952000-169983200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr1:169952000-169984600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:169952000-169985200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:169952000-170018000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:169952200-169983000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:169952400-169967800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:169952400-169983000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:169952400-169984600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:169952600-169975400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:169952600-169984800	Weak transcription	Fetal Intestine Large	intestine
43	chr1:169953400-169968000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:169954600-169968200	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:169954800-169968400	Weak transcription	Adipose Nuclei	Adipose
46	chr1:169955000-169984800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:169955600-169984800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:169956800-169997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:169960800-169968000	Weak transcription	HUVEC	blood vessel
50	chr1:169960800-169970800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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