Variant report

Variant	rs73314581
Chromosome Location	chr12:63165527-63165528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63163682..63166191-chr12:63171136..63172750,2	MCF-7	breast:
2	chr12:63164373..63167364-chr12:63168483..63171041,2	MCF-7	breast:
3	chr12:63164903..63166981-chrX:53698801..53701241,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11174653	1.00[AMR][1000 genomes]
rs12296629	1.00[AMR][1000 genomes]
rs12322519	1.00[AMR][1000 genomes]
rs28634479	1.00[AMR][1000 genomes]
rs7300333	1.00[AMR][1000 genomes]
rs73314579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314583	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74098847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74098854	1.00[AMR][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:54 , 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	chr12:63158000-63166000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:63158200-63167600	Weak transcription	Fetal Intestine Large	intestine
8	chr12:63158600-63166800	Weak transcription	Left Ventricle	heart
9	chr12:63160200-63166600	Enhancers	A549	lung
10	chr12:63160400-63166600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:63161200-63168200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:63161400-63180000	Weak transcription	Aorta	Aorta
13	chr12:63161800-63165800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:63161800-63167600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:63161800-63179400	Weak transcription	Brain Angular Gyrus	brain
16	chr12:63162000-63166200	Weak transcription	NH-A	brain
17	chr12:63162000-63166200	Weak transcription	NHDF-Ad	bronchial
18	chr12:63162000-63170400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:63162200-63166000	Weak transcription	HMEC	breast
20	chr12:63162200-63166200	Weak transcription	NHEK	skin
21	chr12:63162200-63166400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:63162200-63174800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:63162600-63166600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:63162800-63166000	Enhancers	Brain Hippocampus Middle	brain
25	chr12:63163000-63166600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:63163200-63165800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr12:63163200-63166600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:63163200-63166600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:63163200-63166600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:63163200-63168200	Weak transcription	HepG2	liver
31	chr12:63163400-63165600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:63163400-63167600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:63163600-63166200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr12:63163600-63167200	Weak transcription	Small Intestine	intestine
35	chr12:63163600-63178400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:63163800-63166200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:63163800-63175000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:63164000-63165600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:63164200-63166600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:63164400-63166200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:63164400-63167400	Weak transcription	Fetal Intestine Small	intestine
42	chr12:63164600-63167600	Weak transcription	Stomach Mucosa	stomach
43	chr12:63164600-63175200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:63164800-63166200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:63164800-63168000	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:63164800-63170400	Weak transcription	Gastric	stomach
47	chr12:63164800-63177200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:63164800-63177600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:63164800-63177800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:63165200-63165600	Enhancers	Brain Cingulate Gyrus	brain

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