Variant report

Variant	rs7136295
Chromosome Location	chr12:45754165-45754166
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10748423	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10785572	0.87[EUR][1000 genomes]
rs10880774	0.86[EUR][1000 genomes]
rs10880776	0.85[EUR][1000 genomes]
rs12314896	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986426	0.81[ASN][1000 genomes]
rs2408315	0.83[ASN][1000 genomes]
rs2408316	0.83[ASN][1000 genomes]
rs2897868	0.87[EUR][1000 genomes]
rs4469956	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6582545	0.87[EUR][1000 genomes]
rs7307697	0.83[ASN][1000 genomes]
rs7958429	0.85[EUR][1000 genomes]
rs7967892	0.87[EUR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:45735400-45755200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:45738800-45754600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:45739000-45756000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr12:45740400-45755000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:45740800-45757600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:45741400-45755400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:45742800-45758000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:45744800-45758800	Weak transcription	Psoas Muscle	Psoas
11	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:45745000-45756800	Weak transcription	Esophagus	oesophagus
13	chr12:45745000-45757000	Weak transcription	Spleen	Spleen
14	chr12:45745000-45762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:45745000-45763600	Weak transcription	Pancreas	Pancrea
16	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:45745000-45779800	Weak transcription	Gastric	stomach
18	chr12:45745200-45755200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:45745200-45755800	Weak transcription	HSMM	muscle
20	chr12:45745200-45756600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:45745400-45754200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:45745400-45755800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
24	chr12:45745600-45755400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:45745600-45755800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:45745600-45763800	Weak transcription	Fetal Brain Male	brain
27	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:45747400-45754200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:45748000-45754400	Strong transcription	Primary T cells from cord blood	blood
30	chr12:45748200-45754600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:45748400-45754800	Strong transcription	Fetal Thymus	thymus
32	chr12:45749000-45754400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:45749200-45754400	Strong transcription	Dnd41	blood
34	chr12:45749200-45757400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:45749400-45754800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:45749600-45754800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:45749800-45755200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:45749800-45756600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:45749800-45756800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:45749800-45757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:45749800-45757000	Weak transcription	Lung	lung
42	chr12:45750000-45757000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:45750000-45757000	Weak transcription	Placenta	Placenta
44	chr12:45750000-45762600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:45750000-45771400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:45750000-45772200	Weak transcription	K562	blood
47	chr12:45750800-45754400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:45751000-45754400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:45752000-45754400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:45752000-45755600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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