Variant report

Variant	rs12153449
Chromosome Location	chr5:108086317-108086318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:108060235..108074407-chr5:108078172..108087811,48	K562	blood:
2	chr5:108084910..108087021-chr5:108747518..108750406,2	K562	blood:
3	chr5:108059312..108068052-chr5:108079113..108087366,42	K562	blood:
4	chr5:108083007..108085896-chr5:108086009..108087587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151422	Chromatin interaction
ENSG00000272523	Chromatin interaction

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

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

rs_ID	r²[population]
rs11240983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11741158	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12152902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12153447	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12153549	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12188386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13154354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13169624	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs13184924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13185815	1.00[YRI][hapmap]
rs34263420	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs34505415	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34989254	0.88[EUR][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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108082600-108087000	Active TSS	Stomach Smooth Muscle	stomach
2	chr5:108082800-108086400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:108082800-108086400	Active TSS	NHDF-Ad	bronchial
4	chr5:108085600-108086400	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr5:108085600-108086400	Weak transcription	Esophagus	oesophagus
6	chr5:108085600-108086600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:108085600-108086600	Enhancers	Fetal Heart	heart
8	chr5:108085600-108086600	Weak transcription	Right Ventricle	heart
9	chr5:108085600-108086800	Weak transcription	Gastric	stomach
10	chr5:108085600-108091000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:108085600-108102600	Weak transcription	Lung	lung
12	chr5:108085600-108119800	Weak transcription	Left Ventricle	heart
13	chr5:108085800-108086400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:108085800-108086400	Active TSS	Primary hematopoietic stem cells	blood
15	chr5:108085800-108086400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:108085800-108086400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:108085800-108086400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:108085800-108086400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:108085800-108086600	Enhancers	Fetal Brain Male	brain
20	chr5:108085800-108086800	Enhancers	Colon Smooth Muscle	Colon
21	chr5:108085800-108087600	Weak transcription	Osteobl	bone
22	chr5:108085800-108088200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr5:108085800-108089200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:108085800-108089400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:108085800-108089400	Weak transcription	HSMM	muscle
26	chr5:108085800-108089400	Weak transcription	HSMMtube	muscle
27	chr5:108085800-108094400	Weak transcription	Brain Anterior Caudate	brain
28	chr5:108085800-108095200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:108085800-108095200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:108085800-108095400	Weak transcription	Primary B cells from cord blood	blood
31	chr5:108085800-108095400	Weak transcription	A549	lung
32	chr5:108085800-108097800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:108085800-108097800	Weak transcription	Brain Angular Gyrus	brain
34	chr5:108086000-108086400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:108086000-108086400	Flanking Active TSS	GM12878-XiMat	blood
36	chr5:108086000-108086400	Flanking Active TSS	NHEK	skin
37	chr5:108086000-108086600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr5:108086000-108088000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:108086000-108088000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:108086000-108088400	Weak transcription	HUVEC	blood vessel
41	chr5:108086200-108086400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:108086200-108086400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:108086200-108086400	Enhancers	Fetal Brain Female	brain
44	chr5:108086200-108086400	Enhancers	Hela-S3	cervix
45	chr5:108086200-108086400	Flanking Active TSS	HMEC	breast
46	chr5:108086200-108086600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:108086200-108087000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:108086200-108087800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:108086200-108087800	Weak transcription	NHLF	lung
50	chr5:108086200-108088200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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