Variant report

Variant	rs1730111
Chromosome Location	chr2:97643117-97643118
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	chr2:97503295..97505354-chr2:97640763..97643321,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10202644	0.85[ASN][1000 genomes]
rs1257000	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1257008	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1257009	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1257011	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1257012	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1257015	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1257016	0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1257017	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1257019	0.80[AMR][1000 genomes]
rs1257027	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1257028	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1257029	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1268682	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12717787	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13016654	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13021723	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1623881	0.85[ASN][1000 genomes]
rs1730106	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1730119	0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1730120	0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1730122	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1730123	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1730124	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1730126	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1730128	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1730129	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1730130	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1730131	0.80[AMR][1000 genomes]
rs1796027	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1796028	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1796029	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1796032	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1796038	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1796041	0.86[AMR][1000 genomes]
rs1796044	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1796045	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1796047	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1796049	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34434950	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4263148	0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4366944	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4586672	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6576992	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6576994	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6576995	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6576997	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6576999	0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6714860	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6715329	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6757916	0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7569434	0.86[ASN][1000 genomes]
rs7584318	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7584335	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7593493	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv32727	chr2:97616488-97643975	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv582498	chr2:97639135-97715154	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97620800-97643600	Weak transcription	Right Atrium	heart
2	chr2:97633200-97643200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:97636400-97643200	Weak transcription	Fetal Kidney	kidney
4	chr2:97636600-97643200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:97636600-97643400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:97637400-97643200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:97638400-97647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:97639200-97643200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:97641000-97643400	Weak transcription	Fetal Lung	lung
10	chr2:97641800-97643400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:97642200-97644200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:97642600-97643200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:97643000-97643200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:97643000-97643200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:97643000-97643200	Weak transcription	Brain Anterior Caudate	brain
16	chr2:97643000-97643200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:97643000-97643200	Enhancers	A549	lung
18	chr2:97643000-97643400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:97643000-97644000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:97643000-97644000	Enhancers	HMEC	breast

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