Variant report

Variant	rs333998
Chromosome Location	chr2:179106727-179106728
allele	C/G
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]
rs101266	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10203420	0.81[EUR][1000 genomes]
rs12469658	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12474257	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12476671	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs333997	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334004	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs334009	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs334013	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs334014	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs551368	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288016	0.84[EUR][1000 genomes]
rs9989738	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179091200-179115000	Weak transcription	Aorta	Aorta
2	chr2:179101000-179115400	Weak transcription	Gastric	stomach
3	chr2:179101400-179107000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:179104200-179107800	Weak transcription	Psoas Muscle	Psoas
5	chr2:179104200-179111000	Weak transcription	Left Ventricle	heart
6	chr2:179105400-179120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:179106200-179109000	Enhancers	Fetal Muscle Leg	muscle
8	chr2:179106400-179107200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:179106400-179107400	Enhancers	Brain Hippocampus Middle	brain
10	chr2:179106400-179107600	Enhancers	Brain Anterior Caudate	brain
11	chr2:179106400-179107600	Enhancers	Hela-S3	cervix
12	chr2:179106400-179107800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:179106400-179108000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:179106400-179108400	Enhancers	Fetal Brain Male	brain
15	chr2:179106600-179106800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:179106600-179106800	Enhancers	Pancreas	Pancrea
17	chr2:179106600-179106800	Enhancers	A549	lung
18	chr2:179106600-179106800	Enhancers	NH-A	brain
19	chr2:179106600-179107000	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:179106600-179107000	Enhancers	K562	blood
21	chr2:179106600-179107200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:179106600-179107200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:179106600-179107200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:179106600-179107200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:179106600-179107200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:179106600-179107200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:179106600-179107200	Enhancers	Adipose Nuclei	Adipose
28	chr2:179106600-179107200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:179106600-179107200	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:179106600-179107200	Enhancers	Right Atrium	heart
31	chr2:179106600-179107200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:179106600-179107200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:179106600-179107400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:179106600-179107400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:179106600-179107400	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:179106600-179107400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr2:179106600-179107400	Enhancers	Fetal Lung	lung
38	chr2:179106600-179107400	Enhancers	HMEC	breast
39	chr2:179106600-179107400	Enhancers	HSMM	muscle
40	chr2:179106600-179107400	Enhancers	NHEK	skin
41	chr2:179106600-179107400	Enhancers	NHLF	lung
42	chr2:179106600-179107600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:179106600-179107600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:179106600-179107600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:179106600-179107600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:179106600-179107600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:179106600-179107600	Enhancers	Liver	Liver
48	chr2:179106600-179107600	Enhancers	Brain Angular Gyrus	brain
49	chr2:179106600-179107600	Enhancers	Brain Substantia Nigra	brain
50	chr2:179106600-179107600	Enhancers	Colon Smooth Muscle	Colon

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