Variant report

Variant	rs28373517
Chromosome Location	chr12:121992762-121992763
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121990042..121992770-chr12:122016327..122019220,2	MCF-7	breast:
2	chr12:121980790..121983030-chr12:121991710..121993807,2	K562	blood:
3	chr12:121991702..121994445-chr12:122229645..122232096,2	MCF-7	breast:
4	chr12:121973342..121977941-chr12:121987524..121992877,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089094	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000256742	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28379971	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28397967	0.87[EUR][1000 genomes]
rs28451063	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28481788	0.87[EUR][1000 genomes]
rs28618294	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28620502	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28667673	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28687122	0.88[EUR][1000 genomes]
rs28728162	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28757753	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28845610	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4981000	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4981004	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4981013	0.97[AMR][1000 genomes]
rs4981016	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121976400-122001200	Strong transcription	Dnd41	blood
2	chr12:121976600-122006800	Weak transcription	Fetal Lung	lung
3	chr12:121976600-122014600	Weak transcription	Colonic Mucosa	Colon
4	chr12:121976800-121995400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:121976800-121998600	Weak transcription	NHDF-Ad	bronchial
6	chr12:121977200-122015200	Weak transcription	Small Intestine	intestine
7	chr12:121978000-121997000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:121979400-122006000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:121979600-121993000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:121979600-121993200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:121981600-122000800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:121986000-122012000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:121986200-121997000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:121986800-122006800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:121986800-122006800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:121986800-122011800	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:121987000-121998000	Weak transcription	Placenta	Placenta
18	chr12:121987000-122006800	Weak transcription	Right Ventricle	heart
19	chr12:121987200-122006800	Weak transcription	NHLF	lung
20	chr12:121987200-122011800	Weak transcription	Fetal Intestine Large	intestine
21	chr12:121987400-121993600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:121987400-121994000	Weak transcription	Left Ventricle	heart
23	chr12:121987400-121997800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:121987400-121998600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:121987400-122007000	Weak transcription	Ovary	ovary
26	chr12:121987400-122011800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:121987400-122011800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:121987600-121996800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:121987600-121997200	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:121987600-121998200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:121987600-121998600	Weak transcription	Adipose Nuclei	Adipose
32	chr12:121987600-121999400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:121987600-122005200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:121987600-122006400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:121987600-122006400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:121987600-122007000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:121987600-122007800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:121987600-122008400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:121987600-122008600	Weak transcription	Brain Germinal Matrix	brain
40	chr12:121987600-122010200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:121987600-122012000	Weak transcription	Brain Substantia Nigra	brain
42	chr12:121987600-122012000	Weak transcription	NHEK	skin
43	chr12:121987600-122016800	Weak transcription	Aorta	Aorta
44	chr12:121987800-121995600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:121987800-121995800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:121987800-121998000	Weak transcription	Spleen	Spleen
47	chr12:121987800-121998400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:121987800-121998400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:121987800-122000400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:121987800-122006800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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