Variant report

Variant	rs2004607
Chromosome Location	chr11:76034242-76034243
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	chr11:75924146..75926385-chr11:76032779..76035393,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10899206	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236699	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1893916	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2156715	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2213019	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4564359	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs736981	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs736982	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs750802	0.83[EUR][1000 genomes]
rs878904	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv989053	chr11:76027846-76039082	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv524020	chr11:76033374-76047793	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2004607	SLCO2B1	cis	cerebellum	SCAN
rs2004607	FOLR3	cis	parietal	SCAN
rs2004607	FABP7	trans	cerebellum	SCAN
rs2004607	KCTD21	cis	parietal	SCAN
rs2004607	FAM168A	cis	cerebellum	SCAN
rs2004607	INTS4	cis	cerebellum	SCAN
rs2004607	PGM2L1	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76033400-76035000	Enhancers	Hela-S3	cervix
2	chr11:76033400-76035200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:76033400-76038600	Weak transcription	Spleen	Spleen
4	chr11:76033600-76034400	Weak transcription	Fetal Heart	heart
5	chr11:76033600-76035000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:76033600-76035400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:76033600-76035400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:76033600-76035400	Enhancers	K562	blood
9	chr11:76033600-76035600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:76033600-76038400	Weak transcription	Right Atrium	heart
11	chr11:76033600-76040200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:76033800-76034400	Enhancers	NHEK	skin
13	chr11:76033800-76034600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr11:76033800-76034600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:76033800-76034800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr11:76033800-76035200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:76033800-76035200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:76033800-76040000	Weak transcription	Fetal Lung	lung
19	chr11:76034200-76034600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr11:76034200-76035200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:76034200-76038400	Weak transcription	Placenta	Placenta
22	chr11:76034200-76038400	Weak transcription	Left Ventricle	heart
23	chr11:76034200-76038600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:76034200-76038600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:76034200-76038800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:76034200-76040200	Weak transcription	Adipose Nuclei	Adipose

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