Variant report

Variant	rs699830
Chromosome Location	chr1:76535111-76535112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76528266..76531083-chr1:76533694..76535257,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10493580	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs11162070	0.85[EUR][1000 genomes]
rs11162073	0.85[EUR][1000 genomes]
rs11162079	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1144343	0.95[ASN][1000 genomes]
rs1144346	0.95[ASN][1000 genomes]
rs1146663	0.95[ASN][1000 genomes]
rs11805321	0.86[EUR][1000 genomes]
rs12038667	0.84[EUR][1000 genomes]
rs12039427	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12040748	0.86[EUR][1000 genomes]
rs12045798	0.83[CEU][hapmap]
rs1251576	0.85[ASN][1000 genomes]
rs1251806	0.85[ASN][1000 genomes]
rs12568806	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1417407	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1763465	0.87[ASN][1000 genomes]
rs291075	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146895	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4146896	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4949690	0.86[EUR][1000 genomes]
rs58483436	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6703146	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs6704184	0.85[EUR][1000 genomes]
rs699829	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7517793	0.86[EUR][1000 genomes]
rs7517974	0.86[EUR][1000 genomes]
rs7529565	0.84[EUR][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	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv521786	chr1:76525783-76535434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76531200-76535200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:76531400-76538600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:76531400-76539800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:76532600-76540000	Weak transcription	Aorta	Aorta
5	chr1:76533200-76535400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:76533800-76535200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:76533800-76535200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:76533800-76535400	Enhancers	Fetal Lung	lung
9	chr1:76533800-76535600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:76534000-76535200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:76534000-76535200	Enhancers	Adipose Nuclei	Adipose
12	chr1:76534000-76535200	Enhancers	NH-A	brain
13	chr1:76534000-76535400	Enhancers	Colon Smooth Muscle	Colon
14	chr1:76534000-76535600	Enhancers	Stomach Smooth Muscle	stomach
15	chr1:76534200-76535200	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:76534200-76535400	Enhancers	Stomach Mucosa	stomach
17	chr1:76534200-76535600	Enhancers	Fetal Stomach	stomach
18	chr1:76534400-76535200	Enhancers	Fetal Kidney	kidney
19	chr1:76534400-76535200	Enhancers	Fetal Muscle Leg	muscle
20	chr1:76534400-76535400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:76534600-76535200	Enhancers	Brain Hippocampus Middle	brain
22	chr1:76534600-76535600	Enhancers	HUVEC	blood vessel
23	chr1:76534600-76539200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:76534600-76539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:76534600-76539800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:76534600-76540000	Weak transcription	NHDF-Ad	bronchial
27	chr1:76534800-76538600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:76535000-76535400	Enhancers	Brain Substantia Nigra	brain
29	chr1:76535000-76538600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:76535000-76539800	Weak transcription	A549	lung
31	chr1:76535000-76540400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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