Variant report

Variant	rs16866202
Chromosome Location	chr2:179137143-179137144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179134962..179137702-chr2:179142428..179144943,2	K562	blood:
2	chr2:179133115..179135178-chr2:179137086..179139521,2	K562	blood:
3	chr2:179130908..179132463-chr2:179135714..179138343,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10182749	0.90[EUR][1000 genomes]
rs12464536	0.81[EUR][1000 genomes]
rs12474802	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12474844	1.00[CEU][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs12618660	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs13386703	0.90[EUR][1000 genomes]
rs13400415	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13404410	0.90[EUR][1000 genomes]
rs1434086	0.81[EUR][1000 genomes]
rs168009	0.85[CHD][hapmap]
rs16866191	0.92[CHD][hapmap];1.00[MEX][hapmap];0.82[ASN][1000 genomes]
rs16866226	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16866231	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16866247	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16866256	0.81[EUR][1000 genomes]
rs16866271	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16866273	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16866275	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16866281	1.00[CEU][hapmap]
rs16866299	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1982104	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs3813252	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs55682490	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55707762	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55719869	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55992481	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56002997	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56148541	0.81[EUR][1000 genomes]
rs58505502	0.90[EUR][1000 genomes]
rs718650	0.81[EUR][1000 genomes]
rs718651	0.81[EUR][1000 genomes]
rs7576995	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179111200-179137400	Weak transcription	Right Atrium	heart
2	chr2:179132800-179142400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:179133800-179142400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:179133800-179146800	Weak transcription	Esophagus	oesophagus
5	chr2:179134800-179137400	Weak transcription	Right Ventricle	heart
6	chr2:179134800-179137600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:179135000-179137400	Weak transcription	Left Ventricle	heart
8	chr2:179135000-179139000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:179135200-179138400	Enhancers	K562	blood
10	chr2:179135200-179138800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:179135400-179137800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:179135400-179142400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:179135600-179137400	Enhancers	Brain Anterior Caudate	brain
14	chr2:179135800-179137200	Weak transcription	Psoas Muscle	Psoas
15	chr2:179135800-179142600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:179136000-179137400	Enhancers	Liver	Liver
17	chr2:179136000-179137600	Enhancers	Fetal Muscle Leg	muscle
18	chr2:179136000-179137800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:179136000-179137800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:179136000-179138800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:179136000-179142400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:179136400-179137200	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:179136400-179137400	Enhancers	Adipose Nuclei	Adipose
24	chr2:179136400-179137600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:179136400-179138800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:179136600-179137200	Enhancers	Brain Hippocampus Middle	brain
27	chr2:179136600-179137200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:179136600-179137200	Enhancers	HSMMtube	muscle
29	chr2:179136600-179137400	Flanking Active TSS	HMEC	breast
30	chr2:179136600-179137600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:179136600-179137600	Enhancers	Brain Substantia Nigra	brain
32	chr2:179136600-179137600	Enhancers	Stomach Smooth Muscle	stomach
33	chr2:179136600-179137800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr2:179136600-179138400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:179136800-179137200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:179136800-179137200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:179136800-179137200	Enhancers	Brain Angular Gyrus	brain
38	chr2:179136800-179137400	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:179136800-179137600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr2:179136800-179137600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:179136800-179146800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:179137000-179137200	Enhancers	NHEK	skin
43	chr2:179137000-179137400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:179137000-179137400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr2:179137000-179137600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:179137000-179138800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:179137000-179142000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:179137000-179142000	Weak transcription	HSMM	muscle

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