Variant report

Variant	rs6424957
Chromosome Location	chr1:184545626-184545627
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184539330..184541110-chr1:184544206..184546034,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10158270	0.85[AMR][1000 genomes]
rs12057256	0.85[AMR][1000 genomes]
rs12079052	0.85[AMR][1000 genomes]
rs12079092	0.85[AMR][1000 genomes]
rs12084533	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184521000-184547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:184525000-184546000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:184532400-184545800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:184533200-184547400	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:184536000-184559000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:184536000-184559000	Weak transcription	NHEK	skin
7	chr1:184536200-184549200	Weak transcription	NHDF-Ad	bronchial
8	chr1:184536800-184559200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:184537200-184545800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:184537200-184559000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:184538000-184559400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:184538400-184558000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:184538400-184558000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:184538400-184559000	Weak transcription	Right Atrium	heart
15	chr1:184538600-184549000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:184538800-184548600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:184543000-184545800	Weak transcription	Fetal Stomach	stomach
18	chr1:184543600-184546200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:184544000-184546600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:184544200-184545800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:184544200-184545800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:184544200-184546600	Enhancers	Brain Anterior Caudate	brain
23	chr1:184544200-184551200	Weak transcription	Small Intestine	intestine
24	chr1:184544400-184545800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:184544400-184545800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:184544400-184552800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:184544600-184545800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:184544600-184545800	Weak transcription	Brain Substantia Nigra	brain
29	chr1:184544600-184547400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:184544600-184552400	Weak transcription	Fetal Lung	lung
31	chr1:184545000-184546800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:184545000-184546800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:184545200-184545800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:184545600-184546200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:184545600-184546200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:184545600-184546200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:184545600-184546200	Enhancers	Fetal Muscle Trunk	muscle
38	chr1:184545600-184546200	Enhancers	Left Ventricle	heart
39	chr1:184545600-184546200	Enhancers	Stomach Smooth Muscle	stomach
40	chr1:184545600-184546800	Enhancers	Psoas Muscle	Psoas
41	chr1:184545600-184547400	Enhancers	Fetal Muscle Leg	muscle
42	chr1:184545600-184547600	Enhancers	Adipose Nuclei	Adipose

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