Variant report

Variant	rs537876
Chromosome Location	chr6:72190593-72190594
allele	G/T
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: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10155718	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1738070	0.84[EUR][1000 genomes]
rs4141421	0.85[EUR][1000 genomes]
rs472572	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472935	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs478959	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs493265	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs494938	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs495002	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs503993	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs504139	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs504983	0.94[ASN][1000 genomes]
rs543625	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558116	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs573317	0.84[EUR][1000 genomes]
rs701698	0.85[EUR][1000 genomes]
rs701699	0.85[EUR][1000 genomes]
rs852919	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs852920	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs852923	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs852924	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs852926	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs852927	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs852928	0.84[EUR][1000 genomes]
rs852942	0.81[ASN][1000 genomes]
rs852943	0.81[ASN][1000 genomes]
rs852947	0.81[ASN][1000 genomes]
rs852962	0.89[ASW][hapmap];0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][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	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72179400-72191200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:72183000-72192600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:72185400-72192600	Enhancers	HSMM	muscle
4	chr6:72186800-72193200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:72187000-72192000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:72187000-72192600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:72187000-72193000	Enhancers	Adipose Nuclei	Adipose
8	chr6:72187800-72193200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:72188000-72191000	Enhancers	Colon Smooth Muscle	Colon
10	chr6:72189200-72190600	Weak transcription	Fetal Lung	lung
11	chr6:72189200-72190800	Weak transcription	Fetal Kidney	kidney
12	chr6:72189200-72191200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:72189200-72191400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:72189200-72191800	Enhancers	NHEK	skin
15	chr6:72189200-72192400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:72189200-72192400	Enhancers	NHLF	lung
17	chr6:72189200-72192600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:72189200-72192600	Enhancers	HSMMtube	muscle
19	chr6:72189200-72192600	Enhancers	NHDF-Ad	bronchial
20	chr6:72189200-72193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:72189200-72193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:72189200-72199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:72189400-72190800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:72189400-72192000	Enhancers	HUVEC	blood vessel
25	chr6:72189400-72192600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:72189400-72195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:72189600-72199800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:72189800-72190600	Weak transcription	NH-A	brain
29	chr6:72189800-72190800	Weak transcription	HMEC	breast
30	chr6:72189800-72193800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:72189800-72196000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:72190000-72190600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:72190000-72190800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:72190200-72191800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:72190400-72190600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr6:72190400-72190600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr6:72190400-72190600	Enhancers	Psoas Muscle	Psoas
38	chr6:72190400-72190800	Enhancers	Right Atrium	heart
39	chr6:72190400-72192000	Enhancers	Osteobl	bone
40	chr6:72190400-72199000	Weak transcription	Hela-S3	cervix

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