Variant report

Variant	rs12143164
Chromosome Location	chr1:47974381-47974382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47958683..47962723-chr1:47971589..47974688,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10158498	0.88[ASN][1000 genomes]
rs10749868	0.86[ASN][1000 genomes]
rs10890483	0.88[ASN][1000 genomes]
rs10890484	0.88[ASN][1000 genomes]
rs10890485	0.88[ASN][1000 genomes]
rs10890487	0.81[ASN][1000 genomes]
rs1337528	0.90[ASN][1000 genomes]
rs1415540	0.81[ASN][1000 genomes]
rs1415541	0.80[ASN][1000 genomes]
rs1572547	0.85[ASN][1000 genomes]
rs1572548	0.88[ASN][1000 genomes]
rs2065946	0.88[ASN][1000 genomes]
rs2065947	0.88[ASN][1000 genomes]
rs2065948	0.88[ASN][1000 genomes]
rs513464	0.80[ASN][1000 genomes]
rs518025	0.87[ASN][1000 genomes]
rs663650	0.80[ASN][1000 genomes]
rs7528714	0.88[ASN][1000 genomes]
rs7540974	0.86[ASN][1000 genomes]
rs7543774	0.88[ASN][1000 genomes]
rs7544826	0.88[ASN][1000 genomes]
rs7547288	0.88[ASN][1000 genomes]
rs7555100	0.80[ASN][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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47973000-47974800	Flanking Active TSS	Liver	Liver
2	chr1:47973200-47975000	Enhancers	Lung	lung
3	chr1:47973400-47974400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:47973400-47974400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:47973400-47974400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr1:47973400-47974600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
7	chr1:47973400-47974600	Flanking Active TSS	Right Ventricle	heart
8	chr1:47973400-47974800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:47973400-47974800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:47973400-47975200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:47973400-47975400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:47973600-47974400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr1:47973600-47974400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
14	chr1:47973600-47974400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:47973600-47974400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:47973600-47974400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:47973600-47974400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr1:47973600-47974400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
19	chr1:47973600-47974400	Bivalent/Poised TSS	Psoas Muscle	Psoas
20	chr1:47973600-47974400	Active TSS	Right Atrium	heart
21	chr1:47973600-47974400	Active TSS	A549	lung
22	chr1:47973600-47974400	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr1:47973600-47974400	Bivalent/Poised TSS	HSMM	muscle
24	chr1:47973600-47974400	Bivalent/Poised TSS	K562	blood
25	chr1:47973600-47974600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:47973600-47974600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:47973600-47974600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
28	chr1:47973600-47974600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:47973600-47974600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:47973600-47974600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:47973600-47974600	Active TSS	Aorta	Aorta
32	chr1:47973600-47974600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
33	chr1:47973600-47974800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr1:47973600-47974800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr1:47973600-47974800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:47973600-47974800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:47973600-47974800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
38	chr1:47973600-47974800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:47973600-47974800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:47973600-47974800	Bivalent/Poised TSS	Fetal Brain Female	brain
41	chr1:47973600-47975000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr1:47973800-47974400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:47973800-47974400	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:47973800-47974400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
45	chr1:47973800-47974600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:47973800-47974600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr1:47973800-47974600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:47973800-47974600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:47973800-47974600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr1:47973800-47974600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle

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