Variant report

Variant	rs60186830
Chromosome Location	chr12:122022382-122022383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28461264	1.00[EUR][1000 genomes]
rs28468612	0.97[EUR][1000 genomes]
rs28490151	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981001	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4981012	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7313954	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73227908	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73227911	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73227913	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7397580	0.93[EUR][1000 genomes];0.83[ASN][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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122019800-122023000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:122020200-122022400	Enhancers	Fetal Heart	heart
3	chr12:122020200-122027800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:122020600-122027800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:122020600-122028400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:122020600-122030200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:122020800-122022600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr12:122020800-122022600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:122020800-122022600	Enhancers	Dnd41	blood
10	chr12:122020800-122022800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:122020800-122024400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:122020800-122026800	Weak transcription	Primary B cells from cord blood	blood
13	chr12:122020800-122027600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:122020800-122027600	Weak transcription	Psoas Muscle	Psoas
15	chr12:122020800-122027600	Weak transcription	Right Atrium	heart
16	chr12:122020800-122027800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:122020800-122040400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:122021000-122027200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:122021000-122027600	Weak transcription	Placenta	Placenta
20	chr12:122021000-122027800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:122021000-122027800	Weak transcription	Fetal Intestine Small	intestine
22	chr12:122021000-122027800	Weak transcription	Fetal Stomach	stomach
23	chr12:122021000-122027800	Weak transcription	NHDF-Ad	bronchial
24	chr12:122021200-122022400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:122021200-122023600	Weak transcription	GM12878-XiMat	blood
26	chr12:122021200-122024800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:122021200-122026000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:122021200-122026200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:122021200-122027200	Weak transcription	Fetal Thymus	thymus
30	chr12:122021200-122027600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:122021200-122027800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:122021200-122027800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:122021200-122027800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:122021200-122027800	Weak transcription	Osteobl	bone
35	chr12:122021200-122028200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:122021200-122028400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:122021200-122028400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:122021200-122028400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:122021200-122028400	Weak transcription	Aorta	Aorta
40	chr12:122021200-122036000	Weak transcription	Brain Germinal Matrix	brain
41	chr12:122021400-122023800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:122021400-122027800	Weak transcription	HepG2	liver
43	chr12:122021600-122026200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:122021600-122033000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:122021800-122027400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:122022000-122022400	Weak transcription	Brain Angular Gyrus	brain
47	chr12:122022000-122023600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:122022000-122023600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:122022000-122028400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:122022200-122023600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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