Variant report

Variant	rs12639188
Chromosome Location	chr3:159757377-159757378
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	chr3:159755338..159757593-chr3:159759348..159761738,2	K562	blood:
2	chr3:159733162..159735953-chr3:159756245..159759035,2	K562	blood:

Variant related genes	Relation type
ENSG00000244040	Chromatin interaction
ENSG00000242107	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11929543	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12637246	0.91[ASN][1000 genomes]
rs730609	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7618691	0.92[EUR][1000 genomes];0.95[ASN][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	nsv829769	chr3:159606913-159805282	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159755800-159757400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:159755800-159757600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:159756400-159757400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
4	chr3:159756600-159757400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr3:159757000-159757400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
6	chr3:159757000-159757400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr3:159757000-159757400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr3:159757000-159757400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:159757000-159757400	Bivalent Enhancer	Fetal Heart	heart
10	chr3:159757000-159757600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
11	chr3:159757200-159757400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
12	chr3:159757200-159757400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr3:159757200-159757400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr3:159757200-159757400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr3:159757200-159757400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr3:159757200-159757400	Enhancers	Brain Angular Gyrus	brain
17	chr3:159757200-159757400	Bivalent Enhancer	Brain Germinal Matrix	brain
18	chr3:159757200-159757400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:159757200-159757400	Enhancers	Brain Substantia Nigra	brain
20	chr3:159757200-159757400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr3:159757200-159757400	Bivalent Enhancer	Fetal Brain Female	brain
22	chr3:159757200-159757400	Bivalent Enhancer	NH-A	brain
23	chr3:159757200-159757600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr3:159757200-159757600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:159757200-159757600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:159757200-159757600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
27	chr3:159757200-159757600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr3:159757200-159757600	Bivalent Enhancer	Fetal Brain Male	brain
29	chr3:159757200-159758000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:159757200-159758000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:159757200-159758400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:159757200-159766600	Weak transcription	Pancreas	Pancrea

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