Variant report

Variant	rs4845624
Chromosome Location	chr1:151827813-151827814
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	chr1:151826220..151828170-chr1:151965237..151967052,2	MCF-7	breast:
2	chr1:151827756..151830746-chr1:151848383..151850324,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197747	Chromatin interaction
ENSG00000229021	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs1056037	0.88[CEU][hapmap];0.82[CHB][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16833599	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs16833604	0.86[CHB][hapmap]
rs2279503	0.88[CEU][hapmap];0.81[CHB][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2879130	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs745055	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7556386	0.86[CHB][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs923547	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs998500	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs998501	0.86[CHB][hapmap]

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	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4845624	THEM4	cis	lymphoblastoid	seeQTL
rs4845624	THEM4	cis	cerebellum	SCAN
rs4845624	C1orf230	cis	cerebellum	SCAN
rs4845624	THEM4	cis	uninvolved skin	skin_eQTL
rs4845624	C1orf51	cis	cerebellum	SCAN
rs4845624	S100A14	cis	cerebellum	SCAN
rs4845624	THEM4	cis	brain	BrainEAC
rs4845624	S100A10	cis	Lymphoblastoid	GTEx
rs4845624	S100A10	cis	lymphoblastoid	seeQTL
rs4845624	THEM4	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151813400-151828600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:151819200-151847600	Weak transcription	Thymus	Thymus
3	chr1:151821000-151830600	Weak transcription	Right Atrium	heart
4	chr1:151821400-151832400	Weak transcription	Spleen	Spleen
5	chr1:151821600-151845600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:151824400-151828200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:151824800-151828400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:151826400-151829000	Weak transcription	Placenta	Placenta
9	chr1:151826400-151846200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:151827000-151828800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:151827200-151829200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:151827400-151828400	Enhancers	NHEK	skin
13	chr1:151827600-151828200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:151827600-151828600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:151827600-151828800	Enhancers	Fetal Lung	lung
16	chr1:151827600-151829000	Enhancers	K562	blood
17	chr1:151827600-151829800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:151827600-151839800	Weak transcription	Hela-S3	cervix
19	chr1:151827800-151828800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:151827800-151829000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:151827800-151829000	Enhancers	Adipose Nuclei	Adipose
22	chr1:151827800-151829200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:151827800-151829200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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