Variant report

Variant	rs1249881
Chromosome Location	chr3:112397544-112397545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112395899..112398398-chr3:112400973..112403700,2	K562	blood:
2	chr3:112396444..112398004-chr3:112404966..112407512,2	MCF-7	breast:
3	chr3:112358207..112360933-chr3:112392611..112397881,5	MCF-7	breast:
4	chr3:112366603..112369302-chr3:112395665..112397709,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091986	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16859905	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs60584468	1.00[AMR][1000 genomes]
rs6438090	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs6778113	1.00[AMR][1000 genomes]
rs6792371	1.00[AMR][1000 genomes]
rs7611993	1.00[MEX][hapmap];1.00[MKK][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs9866211	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112391400-112407800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:112395000-112397800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr3:112395200-112397600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:112395200-112397600	Enhancers	NHLF	lung
5	chr3:112395800-112398400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:112395800-112400800	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:112396000-112400600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:112396200-112397800	Enhancers	A549	lung
9	chr3:112396200-112398200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:112396200-112400400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:112396200-112400400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:112396200-112400400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:112396200-112400600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:112396200-112400600	Weak transcription	HUVEC	blood vessel
15	chr3:112396400-112397600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr3:112396400-112400400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:112396400-112400400	Weak transcription	NH-A	brain
18	chr3:112396400-112400600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:112396400-112400600	Weak transcription	Hela-S3	cervix
20	chr3:112396400-112404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:112396600-112400000	Weak transcription	HSMM	muscle
22	chr3:112396600-112400400	Weak transcription	HMEC	breast
23	chr3:112396600-112400600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:112396600-112400600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:112396600-112400600	Weak transcription	NHEK	skin
26	chr3:112396800-112398400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr3:112396800-112400200	Weak transcription	Osteobl	bone
28	chr3:112396800-112400400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:112396800-112400600	Weak transcription	HSMMtube	muscle
30	chr3:112397000-112406000	Weak transcription	K562	blood
31	chr3:112397200-112400200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:112397200-112400400	Weak transcription	NHDF-Ad	bronchial
33	chr3:112397400-112400000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:112397400-112400200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:112397400-112400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:112397400-112400400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:112397400-112401400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:112397400-112405200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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