Variant report

Variant	rs12078482
Chromosome Location	chr1:10233943-10233944
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10233656..10235961-chr1:10237803..10240069,2	K562	blood:

Variant related genes	Relation type
ENSG00000130939	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11806619	0.82[EUR][1000 genomes]
rs12058944	0.94[EUR][1000 genomes]
rs12076005	0.91[EUR][1000 genomes]
rs12078483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12087114	0.94[EUR][1000 genomes]
rs17034563	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6699249	0.82[EUR][1000 genomes]
rs7522444	0.94[EUR][1000 genomes]
rs9782879	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9782923	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9782938	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9782997	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10184000-10235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:10211200-10236400	Strong transcription	Fetal Stomach	stomach
4	chr1:10213800-10236000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:10214600-10235600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:10214600-10237000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:10215400-10234400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:10216200-10236400	Strong transcription	Placenta	Placenta
9	chr1:10218000-10234600	Strong transcription	Liver	Liver
10	chr1:10218200-10235800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:10218200-10236600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:10218400-10236200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:10219800-10234000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:10221000-10236400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr1:10221000-10236600	Strong transcription	Adipose Nuclei	Adipose
16	chr1:10221800-10242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:10222000-10236000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:10222200-10236400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr1:10223000-10235000	Strong transcription	Fetal Muscle Leg	muscle
20	chr1:10223000-10237800	Weak transcription	Psoas Muscle	Psoas
21	chr1:10224400-10235000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:10224400-10235600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:10224400-10236600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:10224800-10234200	Strong transcription	Fetal Brain Female	brain
25	chr1:10224800-10236600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:10226400-10238800	Weak transcription	NHEK	skin
27	chr1:10227400-10235800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:10227600-10234000	Strong transcription	Brain Substantia Nigra	brain
29	chr1:10227600-10234000	Strong transcription	Fetal Thymus	thymus
30	chr1:10227600-10235400	Strong transcription	Brain Cingulate Gyrus	brain
31	chr1:10227600-10235400	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:10227600-10235400	Strong transcription	Thymus	Thymus
33	chr1:10227600-10236000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:10227600-10236400	Strong transcription	Primary B cells from cord blood	blood
35	chr1:10227600-10236400	Strong transcription	Primary T cells from cord blood	blood
36	chr1:10227600-10236400	Strong transcription	Fetal Lung	lung
37	chr1:10227600-10236600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr1:10227600-10236600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:10227600-10236600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:10227800-10234000	Strong transcription	Esophagus	oesophagus
41	chr1:10227800-10234000	Strong transcription	Osteobl	bone
42	chr1:10227800-10235200	Strong transcription	Brain Germinal Matrix	brain
43	chr1:10227800-10236600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:10228000-10234000	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr1:10228000-10235200	Strong transcription	Primary hematopoietic stem cells	blood
46	chr1:10228000-10235400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:10228000-10235400	Strong transcription	Brain Anterior Caudate	brain
48	chr1:10228000-10235400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:10228000-10236600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:10229600-10234200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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