Variant report

Variant	rs57231972
Chromosome Location	chr3:156316460-156316461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:156311042..156314506-chr3:156315758..156317660,4	K562	blood:
2	chr3:156316378..156327816-chr3:156388248..156396556,24	K562	blood:

Variant related genes	Relation type
ENSG00000243926	Chromatin interaction
ENSG00000163659	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16826602	1.00[ASN][1000 genomes]
rs16826603	1.00[ASN][1000 genomes]
rs16826607	1.00[ASN][1000 genomes]
rs55934657	0.87[ASN][1000 genomes]
rs56865334	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs60571863	0.87[ASN][1000 genomes]
rs61363943	1.00[ASN][1000 genomes]
rs6765047	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73875722	0.87[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	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv829764	chr3:156174824-156347774	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	nsv877684	chr3:156294987-156344825	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156312000-156323000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:156312200-156317200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:156312200-156317200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:156312200-156317200	Weak transcription	Left Ventricle	heart
5	chr3:156312400-156317000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:156312400-156317000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:156312400-156317000	Weak transcription	Fetal Heart	heart
8	chr3:156312600-156317400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:156312600-156323000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:156312800-156323400	Weak transcription	Brain Substantia Nigra	brain
11	chr3:156313000-156319400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:156315600-156317600	Enhancers	Fetal Intestine Large	intestine
13	chr3:156315800-156316600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr3:156315800-156316600	Enhancers	HepG2	liver
15	chr3:156315800-156317000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:156315800-156317000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:156315800-156317600	Enhancers	Fetal Intestine Small	intestine
18	chr3:156316000-156317000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:156316000-156317200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:156316000-156323600	Weak transcription	Brain Germinal Matrix	brain
21	chr3:156316400-156316600	Enhancers	Ovary	ovary
22	chr3:156316400-156316800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:156316400-156317600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:156316400-156319400	Enhancers	K562	blood

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