Variant report

Variant	rs17122803
Chromosome Location	chr12:60058020-60058021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17122820	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7960680	1.00[EUR][1000 genomes]
rs7966616	1.00[EUR][1000 genomes]
rs7975879	1.00[EUR][1000 genomes]

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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60026600-60089200	Weak transcription	Gastric	stomach
2	chr12:60029600-60063200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:60034000-60061600	Weak transcription	Aorta	Aorta
4	chr12:60045000-60058400	Weak transcription	Left Ventricle	heart
5	chr12:60045600-60061600	Weak transcription	Pancreas	Pancrea
6	chr12:60045600-60071800	Weak transcription	Ovary	ovary
7	chr12:60045800-60085400	Weak transcription	NHDF-Ad	bronchial
8	chr12:60045800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:60048800-60058400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:60050000-60068600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:60050400-60060200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:60050400-60060400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:60050600-60060200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:60050600-60060400	Weak transcription	Primary T cells from cord blood	blood
15	chr12:60050600-60060600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:60050800-60060400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:60050800-60098600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:60051800-60060000	Weak transcription	Primary B cells from cord blood	blood
19	chr12:60052200-60060400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:60055400-60071000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:60055800-60060000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:60056600-60060000	Weak transcription	GM12878-XiMat	blood
23	chr12:60058000-60058200	Enhancers	Psoas Muscle	Psoas
24	chr12:60058000-60058400	Enhancers	Adipose Nuclei	Adipose
25	chr12:60058000-60058600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:60058000-60058600	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr12:60058000-60058800	Enhancers	Fetal Heart	heart

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