Variant report

Variant	rs3769223
Chromosome Location	chr2:173887834-173887835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173885808..173888407-chr2:173907815..173910951,3	MCF-7	breast:
2	chr2:173867155..173868911-chr2:173885451..173888088,2	MCF-7	breast:
3	chr2:173887008..173888780-chr2:173890982..173893784,2	MCF-7	breast:
4	chr2:173846019..173848383-chr2:173886848..173888361,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12612593	0.90[ASN][1000 genomes]
rs12614386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12615974	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12618296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861180	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs34252442	0.97[ASN][1000 genomes]
rs35730673	0.97[ASN][1000 genomes]
rs3769218	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769219	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3769221	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3769224	0.86[AMR][1000 genomes]
rs4296399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7585995	0.97[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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173856200-173892600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:173861000-173888000	Weak transcription	Fetal Stomach	stomach
3	chr2:173868000-173902000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:173868600-173892200	Weak transcription	Fetal Intestine Large	intestine
5	chr2:173877200-173901600	Weak transcription	Gastric	stomach
6	chr2:173879400-173888600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:173880800-173891600	Strong transcription	Liver	Liver
8	chr2:173881200-173892400	Weak transcription	Fetal Intestine Small	intestine
9	chr2:173881200-173912800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:173881400-173897200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:173883000-173892200	Weak transcription	Right Atrium	heart
12	chr2:173884800-173893000	Weak transcription	Right Ventricle	heart
13	chr2:173885400-173890800	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:173885400-173892000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:173885400-173892600	Weak transcription	Brain Anterior Caudate	brain
16	chr2:173886000-173888000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:173886200-173890000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:173886800-173888200	Strong transcription	Lung	lung
19	chr2:173886800-173888600	Strong transcription	Ovary	ovary
20	chr2:173886800-173890600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:173887000-173890000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:173887000-173891400	Weak transcription	Fetal Lung	lung
23	chr2:173887200-173889600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:173887200-173891800	Weak transcription	A549	lung
25	chr2:173887200-173892200	Weak transcription	Adipose Nuclei	Adipose
26	chr2:173887200-173892400	Weak transcription	Hela-S3	cervix
27	chr2:173887200-173892600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:173887200-173893000	Weak transcription	Psoas Muscle	Psoas
29	chr2:173887400-173891400	Weak transcription	Fetal Heart	heart
30	chr2:173887400-173892000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:173887400-173894800	Weak transcription	Left Ventricle	heart
32	chr2:173887800-173888400	Strong transcription	Brain Hippocampus Middle	brain
33	chr2:173887800-173888600	Strong transcription	Brain Inferior Temporal Lobe	brain

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