Variant report

Variant	rs28618294
Chromosome Location	chr12:121995181-121995182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121993997..121998294-chr12:121998925..122002554,4	MCF-7	breast:
2	chr12:121994453..121997342-chr12:122015123..122018483,3	MCF-7	breast:
3	chr12:121994287..121996478-chr12:122014595..122016298,2	K562	blood:
4	chr12:121993155..121995562-chr12:122063151..122066064,2	K562	blood:
5	chr12:121993318..121995830-chr12:122027448..122029552,2	K562	blood:
6	chr12:121994938..121997253-chr12:121998055..122000880,3	K562	blood:
7	chr12:121994420..121996019-chr12:122074657..122076921,2	MCF-7	breast:
8	chr12:121994775..121997316-chr12:122046213..122048505,2	K562	blood:
9	chr12:121994481..121996549-chr12:122235524..122237338,2	MCF-7	breast:
10	chr12:121994532..121997141-chr12:121999615..122001300,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182500	Chromatin interaction
ENSG00000089094	Chromatin interaction

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

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

rs_ID	r²[population]
rs28373517	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28379971	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28451063	0.81[ASN][1000 genomes]
rs28620502	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28667673	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28757753	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28845610	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4981004	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4981013	0.80[AMR][1000 genomes]
rs4981016	0.86[AMR][1000 genomes];0.94[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:96 , 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	chr12:121981600-122000800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:121986000-122012000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:121986200-121997000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:121986800-122006800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:121986800-122006800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:121986800-122011800	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:121987000-121998000	Weak transcription	Placenta	Placenta
16	chr12:121987000-122006800	Weak transcription	Right Ventricle	heart
17	chr12:121987200-122006800	Weak transcription	NHLF	lung
18	chr12:121987200-122011800	Weak transcription	Fetal Intestine Large	intestine
19	chr12:121987400-121997800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:121987400-121998600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:121987400-122007000	Weak transcription	Ovary	ovary
22	chr12:121987400-122011800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:121987400-122011800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:121987600-121996800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:121987600-121997200	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:121987600-121998200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:121987600-121998600	Weak transcription	Adipose Nuclei	Adipose
28	chr12:121987600-121999400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:121987600-122005200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:121987600-122006400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:121987600-122006400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:121987600-122007000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:121987600-122007800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:121987600-122008400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:121987600-122008600	Weak transcription	Brain Germinal Matrix	brain
36	chr12:121987600-122010200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:121987600-122012000	Weak transcription	Brain Substantia Nigra	brain
38	chr12:121987600-122012000	Weak transcription	NHEK	skin
39	chr12:121987600-122016800	Weak transcription	Aorta	Aorta
40	chr12:121987800-121995600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:121987800-121995800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:121987800-121998000	Weak transcription	Spleen	Spleen
43	chr12:121987800-121998400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:121987800-121998400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:121987800-122000400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:121987800-122006800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:121987800-122007000	Weak transcription	Brain Angular Gyrus	brain
48	chr12:121987800-122007000	Weak transcription	Brain Anterior Caudate	brain
49	chr12:121987800-122008200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:121988000-122006600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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