Variant report

Variant	rs7975386
Chromosome Location	chr12:45754691-45754692
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10748422	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10785570	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs10785571	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs1896025	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs1896026	0.95[EUR][1000 genomes]
rs1913695	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4768609	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768614	0.83[ASN][1000 genomes]
rs55669472	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093336	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][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:104 , 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	chr12:45739000-45756000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:45740400-45755000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:45740800-45757600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:45741400-45755400	Weak transcription	Brain Anterior Caudate	brain
8	chr12:45742800-45758000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:45744800-45758800	Weak transcription	Psoas Muscle	Psoas
10	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:45745000-45756800	Weak transcription	Esophagus	oesophagus
12	chr12:45745000-45757000	Weak transcription	Spleen	Spleen
13	chr12:45745000-45762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:45745000-45763600	Weak transcription	Pancreas	Pancrea
15	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:45745000-45779800	Weak transcription	Gastric	stomach
17	chr12:45745200-45755200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:45745200-45755800	Weak transcription	HSMM	muscle
19	chr12:45745200-45756600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:45745400-45755800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
22	chr12:45745600-45755400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:45745600-45755800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:45745600-45763800	Weak transcription	Fetal Brain Male	brain
25	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:45748400-45754800	Strong transcription	Fetal Thymus	thymus
27	chr12:45749200-45757400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:45749400-45754800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:45749600-45754800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:45749800-45755200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:45749800-45756600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:45749800-45756800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:45749800-45757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:45749800-45757000	Weak transcription	Lung	lung
35	chr12:45750000-45757000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:45750000-45757000	Weak transcription	Placenta	Placenta
37	chr12:45750000-45762600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:45750000-45771400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:45750000-45772200	Weak transcription	K562	blood
40	chr12:45752000-45755600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:45752000-45755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:45752000-45756800	Weak transcription	Fetal Intestine Small	intestine
43	chr12:45752000-45762200	Weak transcription	HUVEC	blood vessel
44	chr12:45752200-45755200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:45752200-45755400	Weak transcription	Fetal Lung	lung
46	chr12:45752200-45756200	Weak transcription	Osteobl	bone
47	chr12:45752200-45756400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:45752200-45756400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:45752200-45756800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:45752200-45756800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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