Variant report

Variant	rs504983
Chromosome Location	chr6:72191860-72191861
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	chr6:72186892..72189303-chr6:72189669..72192556,2	K562	blood:
2	chr6:72189935..72191890-chr6:72192010..72194805,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1738072	0.81[EUR][1000 genomes]
rs472572	0.94[ASN][1000 genomes]
rs478959	0.94[ASN][1000 genomes]
rs492196	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs503993	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524110	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs537876	0.94[ASN][1000 genomes]
rs543625	0.94[ASN][1000 genomes]
rs547466	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs547558	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs548456	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs555643	0.81[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs580319	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6927433	0.82[CEU][hapmap]
rs852922	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs852925	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs852929	0.84[EUR][1000 genomes]
rs852930	0.81[EUR][1000 genomes]
rs852931	0.81[EUR][1000 genomes]
rs852942	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs852943	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs852947	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs852961	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs875842	0.82[CEU][hapmap]

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	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases
2	nsv1025409	chr6:72175998-72205044	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs504983	BAI3	cis	cerebellum	SCAN
rs504983	LMBRD1	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72183000-72192600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:72185400-72192600	Enhancers	HSMM	muscle
3	chr6:72186800-72193200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:72187000-72192000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:72187000-72192600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:72187000-72193000	Enhancers	Adipose Nuclei	Adipose
7	chr6:72187800-72193200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr6:72189200-72192400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:72189200-72192400	Enhancers	NHLF	lung
10	chr6:72189200-72192600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:72189200-72192600	Enhancers	HSMMtube	muscle
12	chr6:72189200-72192600	Enhancers	NHDF-Ad	bronchial
13	chr6:72189200-72193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:72189200-72193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:72189200-72199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:72189400-72192000	Enhancers	HUVEC	blood vessel
17	chr6:72189400-72192600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:72189400-72195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:72189600-72199800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:72189800-72193800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:72189800-72196000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:72190400-72192000	Enhancers	Osteobl	bone
23	chr6:72190400-72199000	Weak transcription	Hela-S3	cervix
24	chr6:72190600-72192000	Enhancers	NH-A	brain
25	chr6:72190800-72192000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:72190800-72192600	Enhancers	HMEC	breast
27	chr6:72191000-72192400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:72191200-72192000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:72191400-72200400	Weak transcription	Psoas Muscle	Psoas
30	chr6:72191800-72192000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr6:72191800-72192000	Enhancers	Left Ventricle	heart
32	chr6:72191800-72192000	Enhancers	Right Atrium	heart
33	chr6:72191800-72196000	Weak transcription	NHEK	skin

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