Variant report

Variant	rs6929994
Chromosome Location	chr6:56233248-56233249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56232157..56234744-chr6:56237947..56240028,2	K562	blood:
2	chr6:56232157..56233682-chr6:56237947..56239453,2	K562	blood:
3	chr6:56225017..56229279-chr6:56229711..56233671,3	MCF-7	breast:
4	chr6:56227775..56231675-chr6:56232771..56236094,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12199257	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12204179	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12204391	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12209253	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17224911	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17224995	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17225023	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17225519	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17225591	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17823397	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17823553	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1883600	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3950165	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60268580	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6459154	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6903698	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6908736	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6929337	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6938343	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7452915	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9464380	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9464381	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9475677	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9475678	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9475679	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9475680	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9475682	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9475687	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9475688	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9986501	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56225200-56234800	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:56225200-56235200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr6:56225200-56235200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:56227200-56234800	Enhancers	Hela-S3	cervix
5	chr6:56229200-56236200	Weak transcription	Left Ventricle	heart
6	chr6:56229600-56235000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:56229600-56237800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:56230000-56235000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:56230000-56235000	Weak transcription	HSMMtube	muscle
10	chr6:56230200-56233400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:56230200-56234400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:56230200-56234600	Weak transcription	HSMM	muscle
13	chr6:56230200-56235000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:56230400-56234600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:56230600-56234600	Weak transcription	NH-A	brain
16	chr6:56231000-56235000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:56231000-56238000	Enhancers	Adipose Nuclei	Adipose
18	chr6:56231000-56238000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:56231200-56233800	Weak transcription	HMEC	breast
20	chr6:56231200-56233800	Weak transcription	NHEK	skin
21	chr6:56231200-56234400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:56231200-56234800	Weak transcription	NHDF-Ad	bronchial
23	chr6:56231200-56235000	Weak transcription	Right Atrium	heart
24	chr6:56231200-56235200	Weak transcription	Fetal Heart	heart
25	chr6:56231200-56235800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:56231400-56234800	Enhancers	HepG2	liver
27	chr6:56231400-56235000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:56231600-56234800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:56231600-56234800	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:56231600-56235000	Weak transcription	Psoas Muscle	Psoas
31	chr6:56231600-56235000	Weak transcription	Right Ventricle	heart
32	chr6:56231800-56235000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:56232200-56234800	Weak transcription	Fetal Intestine Large	intestine
34	chr6:56232400-56233600	Enhancers	Ovary	ovary
35	chr6:56232400-56234400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:56232400-56234600	Weak transcription	Fetal Kidney	kidney
37	chr6:56232400-56234800	Weak transcription	Fetal Stomach	stomach
38	chr6:56232400-56235000	Weak transcription	Fetal Lung	lung
39	chr6:56232400-56235200	Weak transcription	Small Intestine	intestine
40	chr6:56232400-56236800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:56232800-56236000	Weak transcription	Spleen	Spleen
42	chr6:56232800-56236200	Weak transcription	Lung	lung
43	chr6:56233200-56233600	Enhancers	NHLF	lung
44	chr6:56233200-56233800	Flanking Active TSS	HUVEC	blood vessel
45	chr6:56233200-56234400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr6:56233200-56234400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:56233200-56234800	Enhancers	Rectal Smooth Muscle	rectum
48	chr6:56233200-56236400	Enhancers	Colon Smooth Muscle	Colon

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