Variant report

Variant	rs13389475
Chromosome Location	chr2:97331585-97331586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97330809..97333568-chr2:97426388..97428107,2	MCF-7	breast:
2	chr2:97325580..97328408-chr2:97329717..97332230,2	MCF-7	breast:
3	chr2:97302323..97305019-chr2:97330715..97334542,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction
ENSG00000158158	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10183164	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10185002	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10199227	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10203766	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10209315	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13384114	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13393729	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13395011	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13398740	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13405842	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2292942	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35715176	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55687728	0.88[EUR][1000 genomes]
rs55716397	0.82[EUR][1000 genomes]
rs59398186	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59426746	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60326991	0.83[EUR][1000 genomes]
rs61063398	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6718340	0.83[EUR][1000 genomes]
rs6732115	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6733589	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6753713	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72939379	0.88[EUR][1000 genomes]
rs72941209	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72941214	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72941219	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72941235	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs747757	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7604736	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7607990	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	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
15	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97309000-97332000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:97328600-97331800	Weak transcription	Aorta	Aorta
3	chr2:97329000-97333000	Enhancers	Placenta	Placenta
4	chr2:97329600-97333000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:97329800-97332200	Enhancers	Pancreas	Pancrea
6	chr2:97330000-97332000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr2:97330200-97332000	Enhancers	Osteobl	bone
8	chr2:97330200-97332400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:97330400-97332200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:97330400-97332200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:97330400-97335000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:97330600-97331600	Enhancers	NHEK	skin
13	chr2:97330600-97331800	Enhancers	Fetal Heart	heart
14	chr2:97330600-97331800	Enhancers	HSMM	muscle
15	chr2:97330600-97331800	Enhancers	NH-A	brain
16	chr2:97330600-97331800	Enhancers	NHDF-Ad	bronchial
17	chr2:97330600-97332000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:97330600-97332000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:97330600-97332000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:97330600-97332000	Enhancers	HMEC	breast
21	chr2:97330600-97332000	Enhancers	HSMMtube	muscle
22	chr2:97330600-97332000	Enhancers	HUVEC	blood vessel
23	chr2:97330600-97332000	Enhancers	NHLF	lung
24	chr2:97330600-97332200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:97330800-97331800	Weak transcription	Gastric	stomach
26	chr2:97330800-97332000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:97330800-97332200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:97331000-97332000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:97331000-97332000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:97331000-97332200	Enhancers	Hela-S3	cervix
31	chr2:97331200-97331600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:97331200-97331800	Enhancers	Fetal Muscle Trunk	muscle
33	chr2:97331200-97332200	Enhancers	Esophagus	oesophagus
34	chr2:97331200-97332200	Enhancers	Right Ventricle	heart
35	chr2:97331200-97332600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:97331400-97332000	Weak transcription	Right Atrium	heart
37	chr2:97331400-97334600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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