Variant report

Variant	rs1473084
Chromosome Location	chr2:206361514-206361515
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	chr2:206359433..206361731-chr2:206363684..206366442,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10469758	0.83[AMR][1000 genomes]
rs10932117	0.83[AMR][1000 genomes]
rs11684023	1.00[AMR][1000 genomes]
rs12471061	0.83[AMR][1000 genomes]
rs13419041	1.00[EUR][1000 genomes]
rs16837286	1.00[EUR][1000 genomes]
rs16837294	1.00[EUR][1000 genomes]
rs1974688	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1988085	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2160383	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2216109	0.83[AMR][1000 genomes]
rs2878751	1.00[AMR][1000 genomes]
rs4377318	1.00[EUR][1000 genomes]
rs4618031	1.00[AMR][1000 genomes]
rs4625893	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4675533	0.83[AMR][1000 genomes]
rs4675534	1.00[AMR][1000 genomes]
rs56827879	1.00[EUR][1000 genomes]
rs61665423	1.00[EUR][1000 genomes]
rs6725078	1.00[EUR][1000 genomes]
rs6730102	1.00[AMR][1000 genomes]
rs6743334	1.00[AMR][1000 genomes]
rs6756042	1.00[EUR][1000 genomes]
rs6756917	1.00[EUR][1000 genomes]
rs73062407	1.00[EUR][1000 genomes]
rs73062568	1.00[EUR][1000 genomes]
rs73065003	1.00[EUR][1000 genomes]
rs73065009	1.00[EUR][1000 genomes]
rs7349394	1.00[AMR][1000 genomes]
rs738074	1.00[AMR][1000 genomes]
rs7594189	0.83[AMR][1000 genomes]
rs764150	1.00[AMR][1000 genomes]
rs9288368	1.00[AMR][1000 genomes]
rs975103	1.00[AMR][1000 genomes]
rs991689	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9973667	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv584244	chr2:206247450-206378392	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv10162	chr2:206272092-206525287	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv19770	chr2:206283097-206671319	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2751840	chr2:206314671-206512921	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1007821	chr2:206333129-206465451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv584245	chr2:206346410-206464465	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv875731	chr2:206346586-206382030	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 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	chr2:206346200-206365200	Weak transcription	Aorta	Aorta
2	chr2:206354200-206364800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:206356400-206364600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:206356800-206368800	Weak transcription	Pancreas	Pancrea
5	chr2:206358800-206362200	Enhancers	HSMMtube	muscle
6	chr2:206358800-206362400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:206359000-206362200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:206359000-206362400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:206359200-206362000	Weak transcription	Fetal Lung	lung
10	chr2:206359200-206364800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:206359400-206362000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:206359400-206362200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:206359400-206362200	Enhancers	HSMM	muscle
14	chr2:206359400-206362400	Enhancers	NHDF-Ad	bronchial
15	chr2:206359600-206362000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:206359600-206362000	Weak transcription	NHLF	lung
17	chr2:206359600-206365600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:206359600-206367600	Weak transcription	Fetal Stomach	stomach
19	chr2:206360400-206361800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:206360400-206362200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:206360400-206362200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:206360400-206362200	Enhancers	NH-A	brain
23	chr2:206360800-206362200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:206361000-206361800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:206361200-206361600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:206361200-206361800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:206361200-206362400	Enhancers	Ovary	ovary
28	chr2:206361200-206363000	Enhancers	Fetal Muscle Leg	muscle
29	chr2:206361200-206364600	Weak transcription	Adipose Nuclei	Adipose
30	chr2:206361400-206361800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:206361400-206362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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