Variant report

Variant	rs3731938
Chromosome Location	chr2:97166204-97166205
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	chr2:97163447..97166315-chr2:97167852..97171300,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163121	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1011040	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10209780	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12717781	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13019986	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2314109	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2464914	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2579502	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2579505	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2708976	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2708977	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2708978	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6576972	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6753667	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749027	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97162200-97167400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:97163400-97166400	Weak transcription	Lung	lung
3	chr2:97164200-97166400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:97164200-97167400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:97164200-97167400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:97164200-97167400	Weak transcription	Liver	Liver
7	chr2:97164200-97167800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:97165400-97166600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:97165600-97166600	Bivalent Enhancer	Fetal Brain Male	brain
10	chr2:97165600-97167800	Bivalent Enhancer	Fetal Thymus	thymus
11	chr2:97165800-97166800	Genic enhancers	Pancreas	Pancrea
12	chr2:97166000-97166400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:97166000-97167000	Bivalent Enhancer	Fetal Heart	heart
14	chr2:97166000-97168400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr2:97166000-97168800	Enhancers	Spleen	Spleen
16	chr2:97166200-97166400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:97166200-97166400	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr2:97166200-97166400	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr2:97166200-97166600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:97166200-97166600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:97166200-97166600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:97166200-97166600	Enhancers	Gastric	stomach
23	chr2:97166200-97166600	Bivalent Enhancer	Psoas Muscle	Psoas
24	chr2:97166200-97166600	Enhancers	Right Ventricle	heart
25	chr2:97166200-97166800	Bivalent Enhancer	Ovary	ovary
26	chr2:97166200-97167200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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