Variant report

Variant	rs12619395
Chromosome Location	chr2:173906041-173906042
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173905270..173911343-chr2:173911871..173916630,12	MCF-7	breast:
2	chr2:173904082..173907764-chr2:173940337..173942357,3	MCF-7	breast:
3	chr2:173897143..173898817-chr2:173905886..173907454,2	K562	blood:

Variant related genes	Relation type
ENSG00000091428	Chromatin interaction
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12623346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1345008	1.00[AFR][1000 genomes]
rs16861227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17760587	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769202	1.00[AFR][1000 genomes]
rs3769246	1.00[JPT][hapmap]
rs6710789	1.00[AFR][1000 genomes]
rs73019627	0.90[ASN][1000 genomes]
rs7425411	1.00[AFR][1000 genomes]
rs752729	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7562681	0.90[ASN][1000 genomes]
rs7567603	1.00[AFR][1000 genomes]
rs7603458	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173881200-173912800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:173888800-173906600	Weak transcription	Lung	lung
3	chr2:173891000-173908000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:173892600-173906800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:173893000-173908800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:173893000-173913200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:173893200-173922000	Weak transcription	Brain Anterior Caudate	brain
8	chr2:173893800-173908200	Weak transcription	Right Ventricle	heart
9	chr2:173894000-173909200	Weak transcription	Fetal Stomach	stomach
10	chr2:173897000-173908200	Weak transcription	HMEC	breast
11	chr2:173901000-173918000	Weak transcription	Brain Angular Gyrus	brain
12	chr2:173902200-173908200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:173902400-173908600	Weak transcription	Fetal Intestine Large	intestine
14	chr2:173902400-173909600	Weak transcription	Small Intestine	intestine
15	chr2:173902600-173906400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:173902800-173906400	Weak transcription	Right Atrium	heart
17	chr2:173902800-173906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:173902800-173908400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:173902800-173909800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:173903000-173906200	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:173903000-173907400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:173903000-173908000	Weak transcription	Liver	Liver
23	chr2:173903000-173908000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:173903800-173906400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:173903800-173906400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:173904400-173921400	Weak transcription	Ovary	ovary
27	chr2:173904600-173913000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:173904800-173906600	Enhancers	Fetal Heart	heart
29	chr2:173905400-173908200	Weak transcription	Left Ventricle	heart
30	chr2:173906000-173909200	Weak transcription	H9 Cell Line	embryonic stem cell

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