Variant report

Variant	rs333999
Chromosome Location	chr2:179106380-179106381
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	chr2:179078656..179081622-chr2:179106356..179108991,2	K562	blood:
2	chr2:179099293..179101307-chr2:179105250..179107076,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11887212	0.89[ASN][1000 genomes]
rs170791	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333996	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs334005	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs334006	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs334007	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs334010	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs334011	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs334017	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs334040	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs334041	0.80[EUR][1000 genomes]
rs334042	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs334043	0.80[EUR][1000 genomes]
rs334044	0.80[EUR][1000 genomes]
rs334045	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179091000-179106400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:179091200-179115000	Weak transcription	Aorta	Aorta
3	chr2:179098600-179106600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:179101000-179115400	Weak transcription	Gastric	stomach
5	chr2:179101400-179107000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:179101800-179106600	Weak transcription	Right Atrium	heart
7	chr2:179103200-179106600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:179103200-179106600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:179103200-179106600	Weak transcription	HSMM	muscle
10	chr2:179103200-179106600	Weak transcription	NHEK	skin
11	chr2:179103200-179106600	Weak transcription	NHLF	lung
12	chr2:179103400-179106600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:179103400-179106600	Weak transcription	Osteobl	bone
14	chr2:179103600-179106400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:179103600-179106600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:179103600-179106600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:179103600-179106600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:179103600-179106600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:179103600-179106600	Weak transcription	A549	lung
20	chr2:179103600-179106600	Weak transcription	HMEC	breast
21	chr2:179103600-179106600	Weak transcription	K562	blood
22	chr2:179103600-179106600	Weak transcription	NH-A	brain
23	chr2:179103600-179106600	Weak transcription	NHDF-Ad	bronchial
24	chr2:179103800-179106400	Weak transcription	Hela-S3	cervix
25	chr2:179104000-179106600	Weak transcription	Liver	Liver
26	chr2:179104000-179106600	Weak transcription	Fetal Heart	heart
27	chr2:179104200-179106600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:179104200-179106600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:179104200-179107800	Weak transcription	Psoas Muscle	Psoas
30	chr2:179104200-179111000	Weak transcription	Left Ventricle	heart
31	chr2:179105400-179106600	Weak transcription	Pancreas	Pancrea
32	chr2:179105400-179120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:179106200-179106600	Enhancers	Fetal Muscle Trunk	muscle
34	chr2:179106200-179109000	Enhancers	Fetal Muscle Leg	muscle

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