Variant report

Variant	rs2678385
Chromosome Location	chr2:97472163-97472164
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	chr2:97465934..97468899-chr2:97470866..97472428,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10189727	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap]
rs11682994	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1257020	1.00[YRI][hapmap]
rs1318597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1624844	1.00[YRI][hapmap]
rs1796029	0.83[YRI][hapmap]
rs1796046	0.83[YRI][hapmap]
rs2280355	1.00[YRI][hapmap]
rs4907251	0.89[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6576983	0.88[ASN][1000 genomes]
rs6576984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6576993	0.83[YRI][hapmap]
rs6707255	1.00[YRI][hapmap]
rs6727384	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6730773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6741561	0.88[ASN][1000 genomes]
rs68026712	0.82[ASN][1000 genomes]
rs7582249	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs7586317	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7608661	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs878919	0.85[ASN][1000 genomes]
rs968470	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs9789421	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs994430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
9	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
10	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
12	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97440000-97480800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:97454600-97481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:97454600-97481000	Weak transcription	NHEK	skin
4	chr2:97454800-97477000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:97455200-97477600	Weak transcription	HSMMtube	muscle
6	chr2:97455400-97477200	Weak transcription	Psoas Muscle	Psoas
7	chr2:97455400-97480600	Weak transcription	Hela-S3	cervix
8	chr2:97462000-97480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:97463000-97476200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:97464600-97477600	Weak transcription	Osteobl	bone
11	chr2:97464600-97480800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:97465200-97474200	Weak transcription	Aorta	Aorta
13	chr2:97465200-97477200	Weak transcription	NHDF-Ad	bronchial
14	chr2:97465200-97481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:97465400-97481200	Weak transcription	Small Intestine	intestine
16	chr2:97466000-97481200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:97466800-97474200	Weak transcription	Ovary	ovary
18	chr2:97466800-97474400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:97466800-97475000	Weak transcription	Brain Substantia Nigra	brain
20	chr2:97466800-97476400	Weak transcription	Liver	Liver
21	chr2:97466800-97478000	Weak transcription	NHLF	lung
22	chr2:97466800-97478600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:97466800-97480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:97466800-97481000	Weak transcription	HMEC	breast
25	chr2:97467200-97472200	Weak transcription	Thymus	Thymus
26	chr2:97467200-97475000	Weak transcription	Fetal Heart	heart
27	chr2:97467400-97472200	Weak transcription	Fetal Thymus	thymus
28	chr2:97467600-97474200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:97467800-97475000	Weak transcription	Brain Angular Gyrus	brain
30	chr2:97467800-97475400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:97467800-97481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:97467800-97481000	Weak transcription	Fetal Brain Male	brain
33	chr2:97468000-97473600	Weak transcription	A549	lung
34	chr2:97468000-97473800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:97468000-97474200	Weak transcription	Brain Anterior Caudate	brain
36	chr2:97468000-97475000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:97468000-97475200	Weak transcription	Stomach Mucosa	stomach
38	chr2:97468000-97475600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:97468000-97476000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:97468000-97480800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:97468000-97480800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:97468000-97481000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:97468200-97472600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:97468200-97474200	Weak transcription	Adipose Nuclei	Adipose
45	chr2:97468200-97474200	Weak transcription	Placenta	Placenta
46	chr2:97468200-97474200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr2:97468200-97474600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:97468200-97475000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:97468200-97475000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:97468200-97475000	Weak transcription	Right Ventricle	heart

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