Variant report

Variant	rs3006984
Chromosome Location	chr1:114557394-114557395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114557212..114558727-chr1:114559009..114561477,2	MCF-7	breast:
2	chr1:114523401..114526223-chr1:114556190..114558490,2	MCF-7	breast:
3	chr1:114555472..114558426-chr1:114586301..114588819,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs901147	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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2754686	chr1:114531958-114602958	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114545800-114562600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:114546200-114557600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:114547400-114568600	Weak transcription	Right Atrium	heart
4	chr1:114551400-114560400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:114551400-114561400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:114551800-114561200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:114551800-114561600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:114552000-114564400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:114552400-114565600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:114552600-114557800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:114554000-114561000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:114556600-114558200	Enhancers	HMEC	breast
13	chr1:114556600-114558400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:114556800-114557400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:114556800-114558200	Enhancers	HSMM	muscle
16	chr1:114556800-114558200	Enhancers	NHEK	skin
17	chr1:114556800-114558400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:114557000-114557600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:114557000-114557800	Enhancers	Esophagus	oesophagus
20	chr1:114557000-114558000	Enhancers	NHDF-Ad	bronchial
21	chr1:114557000-114558200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:114557200-114557400	Flanking Active TSS	A549	lung
23	chr1:114557200-114557800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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