Variant report

Variant	rs57458527
Chromosome Location	chr12:63164130-63164131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63158098..63159608-chr12:63162604..63165458,2	K562	blood:
2	chr12:63163682..63166191-chr12:63171136..63172750,2	MCF-7	breast:
3	chr12:63131484..63133718-chr12:63162471..63164846,2	MCF-7	breast:
4	chr12:63155609..63159608-chr12:63162125..63165442,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11832267	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11832892	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11835042	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12303266	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12305407	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12318793	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55683940	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67454431	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68180179	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7297013	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7297041	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7297161	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7298908	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7299622	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7302870	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7303135	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7311502	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73314563	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73314565	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73314585	0.88[AMR][1000 genomes];0.98[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	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63140000-63168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:63145800-63169400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:63150000-63179800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:63153600-63171000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:63156000-63168000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:63157400-63165400	Weak transcription	Pancreas	Pancrea
7	chr12:63158000-63166000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:63158200-63167600	Weak transcription	Fetal Intestine Large	intestine
9	chr12:63158600-63166800	Weak transcription	Left Ventricle	heart
10	chr12:63159000-63164400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:63160200-63166600	Enhancers	A549	lung
12	chr12:63160400-63166600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:63160800-63164800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:63161000-63164200	Weak transcription	Brain Anterior Caudate	brain
15	chr12:63161000-63165200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:63161000-63165200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:63161200-63168200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:63161400-63180000	Weak transcription	Aorta	Aorta
19	chr12:63161600-63164400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:63161800-63164400	Weak transcription	Gastric	stomach
21	chr12:63161800-63165800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:63161800-63167600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:63161800-63179400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:63162000-63166200	Weak transcription	NH-A	brain
25	chr12:63162000-63166200	Weak transcription	NHDF-Ad	bronchial
26	chr12:63162000-63170400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:63162200-63164800	Weak transcription	Fetal Brain Male	brain
28	chr12:63162200-63165200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:63162200-63166000	Weak transcription	HMEC	breast
30	chr12:63162200-63166200	Weak transcription	NHEK	skin
31	chr12:63162200-63166400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:63162200-63174800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:63162600-63166600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:63162800-63164400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:63162800-63166000	Enhancers	Brain Hippocampus Middle	brain
36	chr12:63163000-63164800	Enhancers	Fetal Muscle Leg	muscle
37	chr12:63163000-63165400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:63163000-63166600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:63163200-63164200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:63163200-63164800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:63163200-63165800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr12:63163200-63166600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:63163200-63166600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr12:63163200-63166600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr12:63163200-63168200	Weak transcription	HepG2	liver
46	chr12:63163400-63165600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr12:63163400-63167600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:63163600-63164600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:63163600-63164600	Enhancers	Duodenum Mucosa	Duodenum
50	chr12:63163600-63164600	Enhancers	Stomach Mucosa	stomach

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