Variant report

Variant	rs16866247
Chromosome Location	chr2:179171098-179171099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179159507..179162290-chr2:179169118..179171327,2	MCF-7	breast:
2	chr2:179170816..179171330-chr2:179261505..179262449,2	MCF-7	breast:
3	chr2:179170812..179171718-chr2:179279175..179279994,3	MCF-7	breast:
4	chr2:179170515..179172303-chr2:179239890..179242516,2	MCF-7	breast:
5	chr2:179170847..179171754-chr2:179279256..179280544,7	MCF-7	breast:
6	chr2:179168821..179172182-chr2:179176484..179179667,3	K562	blood:
7	chr2:179170793..179171751-chr2:179387394..179387956,2	K562	blood:
8	chr2:179059212..179062127-chr2:179171066..179172701,2	MCF-7	breast:
9	chr2:179170844..179171542-chr2:179279105..179279621,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237298	Chromatin interaction
ENSG00000079156	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10182749	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464536	0.90[EUR][1000 genomes]
rs12474802	0.90[EUR][1000 genomes]
rs12474844	0.90[EUR][1000 genomes]
rs12618660	0.90[EUR][1000 genomes]
rs12620577	0.82[EUR][1000 genomes]
rs12620729	0.82[EUR][1000 genomes]
rs13386703	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13400415	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404410	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1434086	0.90[EUR][1000 genomes]
rs16866202	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16866226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16866231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16866256	0.90[EUR][1000 genomes]
rs16866270	0.83[ASN][1000 genomes]
rs16866271	0.90[EUR][1000 genomes]
rs16866273	0.90[EUR][1000 genomes]
rs16866275	0.90[EUR][1000 genomes]
rs16866281	0.82[EUR][1000 genomes]
rs1982104	0.90[EUR][1000 genomes]
rs334602	0.89[ASN][1000 genomes]
rs334603	0.89[ASN][1000 genomes]
rs334606	0.89[ASN][1000 genomes]
rs334608	0.89[ASN][1000 genomes]
rs334611	0.88[ASN][1000 genomes]
rs334613	0.89[ASN][1000 genomes]
rs3813252	0.90[EUR][1000 genomes]
rs55682490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55707762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55719869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55992481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56002997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56148541	0.90[EUR][1000 genomes]
rs58505502	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718650	0.90[EUR][1000 genomes]
rs718651	0.90[EUR][1000 genomes]
rs7576995	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179143200-179188600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:179155600-179174200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:179160200-179188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:179161600-179173600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:179162000-179174200	Weak transcription	Adipose Nuclei	Adipose
6	chr2:179162400-179179800	Weak transcription	Liver	Liver
7	chr2:179163800-179174200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:179164000-179173400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:179164200-179180400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:179164600-179173800	Weak transcription	HMEC	breast
11	chr2:179164600-179200800	Weak transcription	Aorta	Aorta
12	chr2:179165200-179173600	Weak transcription	Esophagus	oesophagus
13	chr2:179165200-179177800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:179165400-179174800	Weak transcription	Gastric	stomach
15	chr2:179166800-179179400	Weak transcription	Psoas Muscle	Psoas
16	chr2:179167000-179179400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:179167000-179179400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:179169000-179171400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:179169400-179171200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:179169400-179171600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:179170800-179171200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:179171000-179171800	Genic enhancers	K562	blood
23	chr2:179171000-179171800	Strong transcription	NHEK	skin
24	chr2:179171000-179179000	Weak transcription	Brain Angular Gyrus	brain

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