Variant report

Variant	rs9290
Chromosome Location	chr12:57057567-57057568
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57041210..57043834-chr12:57056850..57058551,2	K562	blood:
2	chr12:57057213..57059429-chr12:57063749..57066712,2	MCF-7	breast:
3	chr12:57039411..57041030-chr12:57056233..57058576,2	K562	blood:
4	chr12:57057109..57062087-chr12:57076163..57079993,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110955	Chromatin interaction
ENSG00000241217	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11171921	1.00[EUR][1000 genomes]
rs12298255	1.00[EUR][1000 genomes]
rs12299901	1.00[EUR][1000 genomes]
rs12301171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12304710	1.00[EUR][1000 genomes]
rs12306516	1.00[EUR][1000 genomes]
rs12316351	1.00[EUR][1000 genomes]
rs12317442	1.00[EUR][1000 genomes]
rs28753857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56951470	1.00[EUR][1000 genomes]
rs59626769	1.00[EUR][1000 genomes]
rs73338947	1.00[EUR][1000 genomes]
rs73338948	1.00[EUR][1000 genomes]

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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	181 gene(s)	inside rSNPs	diseases
2	nsv976628	chr12:57056791-57058595	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57039800-57059200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:57040400-57059200	Weak transcription	Aorta	Aorta
3	chr12:57040400-57059400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:57040400-57069400	Weak transcription	Right Atrium	heart
5	chr12:57040600-57058200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:57040600-57058200	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:57040600-57058800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:57046200-57059400	Weak transcription	Lung	lung
9	chr12:57051400-57057800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:57051400-57058000	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:57051400-57058400	Weak transcription	Brain Angular Gyrus	brain
12	chr12:57051400-57058600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:57052000-57059200	Weak transcription	Spleen	Spleen
14	chr12:57052400-57059200	Weak transcription	NHLF	lung
15	chr12:57052400-57078200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:57052600-57059800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:57053000-57060200	Weak transcription	Right Ventricle	heart
18	chr12:57053200-57057600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:57054000-57059400	Weak transcription	Ovary	ovary
20	chr12:57054200-57064200	Weak transcription	Small Intestine	intestine
21	chr12:57054200-57069600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:57054400-57058600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:57054400-57059400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:57054600-57067000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr12:57054800-57059200	Weak transcription	Pancreas	Pancrea
26	chr12:57054800-57075800	Strong transcription	Fetal Thymus	thymus
27	chr12:57054800-57076600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:57055000-57060200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:57055200-57058600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:57055200-57064200	Weak transcription	Fetal Heart	heart
31	chr12:57055200-57064400	Strong transcription	Fetal Intestine Large	intestine
32	chr12:57055400-57060000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:57055400-57061400	Strong transcription	A549	lung
34	chr12:57055400-57064000	Weak transcription	Stomach Mucosa	stomach
35	chr12:57055400-57066400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:57055400-57066800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:57055600-57058600	Weak transcription	HSMMtube	muscle
38	chr12:57055600-57061600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:57055600-57065400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr12:57055600-57066000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:57055600-57066600	Strong transcription	Adipose Nuclei	Adipose
42	chr12:57055600-57067200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:57055600-57068200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:57055600-57077400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:57055800-57058200	Weak transcription	HepG2	liver
46	chr12:57055800-57058200	Weak transcription	Osteobl	bone
47	chr12:57055800-57059200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:57055800-57061400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:57055800-57064000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr12:57055800-57064400	Strong transcription	Liver	Liver

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