Variant report

Variant	rs16879765
Chromosome Location	chr7:37989095-37989096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:37986861..37989135-chr7:38028141..38031087,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10085558	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10488618	0.92[EUR][1000 genomes]
rs17171229	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17171238	0.89[EUR][1000 genomes]
rs17171240	0.86[EUR][1000 genomes]
rs2044830	0.86[EUR][1000 genomes]
rs2122620	0.86[EUR][1000 genomes]
rs2122625	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290221	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290223	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965376	1.00[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][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	nsv8074	chr7:37865340-38210087	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Dupuytren's disease	21732829	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16879765	HBG2	trans	brain	seeQTL
rs16879765	HBG1	trans	brain	seeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:37964200-37992600	Weak transcription	Hela-S3	cervix
2	chr7:37978400-37994200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:37979600-37991000	Weak transcription	Fetal Lung	lung
4	chr7:37982800-37990000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:37982800-37992400	Weak transcription	Spleen	Spleen
6	chr7:37984000-37993200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:37984200-37993600	Weak transcription	Brain Angular Gyrus	brain
8	chr7:37984400-37995000	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:37984600-37992000	Weak transcription	Brain Substantia Nigra	brain
10	chr7:37984600-37992000	Weak transcription	Pancreas	Pancrea
11	chr7:37984800-37989800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:37984800-37993600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:37985000-37990000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:37986000-37993600	Weak transcription	Fetal Brain Female	brain
15	chr7:37986200-37989200	Weak transcription	Primary T cells from cord blood	blood
16	chr7:37986600-37990400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:37986800-37993000	Strong transcription	Aorta	Aorta
18	chr7:37987400-37992800	Weak transcription	Fetal Brain Male	brain
19	chr7:37987400-37994200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:37987400-37997200	Weak transcription	Psoas Muscle	Psoas
21	chr7:37987600-37989800	Weak transcription	Ovary	ovary
22	chr7:37987800-37992400	Weak transcription	Left Ventricle	heart
23	chr7:37987800-37993000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:37987800-37993800	Strong transcription	A549	lung
25	chr7:37987800-37996000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:37988000-37990400	Strong transcription	HepG2	liver
27	chr7:37988000-37991400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:37988000-37993400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr7:37988200-37990800	Weak transcription	Fetal Heart	heart
30	chr7:37988400-37990800	Strong transcription	Dnd41	blood
31	chr7:37988400-37991400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:37988400-37991600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:37988400-37992400	Strong transcription	Adipose Nuclei	Adipose
34	chr7:37988400-37993600	Strong transcription	HSMMtube	muscle
35	chr7:37988600-37989400	Strong transcription	Lung	lung
36	chr7:37988600-37992400	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:37988600-37993000	Strong transcription	Fetal Muscle Leg	muscle
38	chr7:37988600-37993400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:37988600-37993600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:37988800-37989400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:37988800-37989400	Strong transcription	Thymus	Thymus
42	chr7:37988800-37992400	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:37989000-37989800	Weak transcription	HSMM	muscle
44	chr7:37989000-37990600	Weak transcription	Liver	Liver
45	chr7:37989000-37993600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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