Variant report

Variant	rs3769294
Chromosome Location	chr2:173725863-173725864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173706643..173709122-chr2:173725202..173727159,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12053036	0.83[ASN][1000 genomes]
rs12615893	0.83[ASN][1000 genomes]
rs2194715	0.86[ASN][1000 genomes]
rs3754760	0.87[EUR][1000 genomes]
rs3754761	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3754762	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754763	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3754764	0.84[ASN][1000 genomes]
rs3769265	0.87[EUR][1000 genomes]
rs3769268	0.87[EUR][1000 genomes]
rs3769277	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769278	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769280	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769281	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769286	0.84[ASN][1000 genomes]
rs3769291	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3769292	0.89[ASN][1000 genomes]
rs3769298	0.88[ASN][1000 genomes]
rs3769302	0.83[ASN][1000 genomes]
rs55759167	0.87[EUR][1000 genomes]
rs55923901	0.87[EUR][1000 genomes]
rs56884890	0.87[EUR][1000 genomes]
rs57440334	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59080171	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs724997	0.86[ASN][1000 genomes]
rs73977703	0.83[ASN][1000 genomes]
rs73977711	0.86[ASN][1000 genomes]
rs73977720	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73977722	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73977726	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73977727	0.87[EUR][1000 genomes]
rs73977729	0.87[EUR][1000 genomes]
rs956752	0.89[ASN][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 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	chr2:173721600-173726000	Weak transcription	Gastric	stomach
2	chr2:173722200-173727400	Enhancers	Fetal Heart	heart
3	chr2:173723400-173728800	Weak transcription	Pancreas	Pancrea
4	chr2:173724200-173727800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:173724400-173727800	Enhancers	Fetal Stomach	stomach
6	chr2:173724600-173726000	Active TSS	Brain Anterior Caudate	brain
7	chr2:173724600-173726000	Active TSS	Brain Substantia Nigra	brain
8	chr2:173724800-173726600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:173724800-173727800	Enhancers	Fetal Lung	lung
10	chr2:173725000-173726000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:173725000-173726000	Weak transcription	Psoas Muscle	Psoas
12	chr2:173725000-173728000	Weak transcription	Fetal Intestine Small	intestine
13	chr2:173725200-173726000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:173725200-173726200	Enhancers	NHEK	skin
15	chr2:173725200-173726400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:173725200-173727400	Weak transcription	Adipose Nuclei	Adipose
17	chr2:173725200-173728000	Weak transcription	Fetal Intestine Large	intestine
18	chr2:173725400-173726400	Weak transcription	Ovary	ovary
19	chr2:173725600-173726200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:173725600-173726800	Enhancers	Right Ventricle	heart
21	chr2:173725600-173727600	Enhancers	Brain Germinal Matrix	brain
22	chr2:173725600-173727800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:173725800-173726000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:173725800-173726000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr2:173725800-173726000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:173725800-173726200	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr2:173725800-173726200	Flanking Active TSS	Right Atrium	heart
28	chr2:173725800-173726200	Enhancers	HUVEC	blood vessel
29	chr2:173725800-173726400	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr2:173725800-173726600	Flanking Active TSS	Hela-S3	cervix
31	chr2:173725800-173726800	Enhancers	Left Ventricle	heart
32	chr2:173725800-173727000	Enhancers	Fetal Muscle Leg	muscle
33	chr2:173725800-173727800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:173725800-173728600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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