Variant report

Variant	rs2386265
Chromosome Location	chr8:122164907-122164908
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	chr8:122067824..122069624-chr8:122163695..122165565,2	MCF-7	breast:
2	chr8:122161597..122165424-chr8:122183969..122186633,4	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10100190	0.96[ASN][1000 genomes]
rs10101113	0.99[ASN][1000 genomes]
rs10109367	1.00[ASN][1000 genomes]
rs10109502	0.94[ASN][1000 genomes]
rs10109711	0.95[ASN][1000 genomes]
rs10956005	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11997916	0.97[ASN][1000 genomes]
rs12547780	0.96[ASN][1000 genomes]
rs12681217	0.96[ASN][1000 genomes]
rs12681237	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12682637	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13252222	0.99[ASN][1000 genomes]
rs13262055	0.99[ASN][1000 genomes]
rs1368594	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1368595	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1368605	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1433392	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504638	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1821323	0.99[ASN][1000 genomes]
rs1836070	0.96[ASN][1000 genomes]
rs2019363	0.82[EUR][1000 genomes]
rs2082534	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134932	0.96[ASN][1000 genomes]
rs2134933	0.96[ASN][1000 genomes]
rs2202382	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202383	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2386266	1.00[ASN][1000 genomes]
rs28738104	0.96[ASN][1000 genomes]
rs2891977	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34173371	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35517836	0.99[ASN][1000 genomes]
rs35627384	0.93[ASN][1000 genomes]
rs4145811	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4282580	0.98[ASN][1000 genomes]
rs4424262	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4560798	0.97[ASN][1000 genomes]
rs4610754	0.96[ASN][1000 genomes]
rs4870759	1.00[ASN][1000 genomes]
rs4870760	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870761	0.99[ASN][1000 genomes]
rs4871163	0.94[ASN][1000 genomes]
rs4871164	0.96[ASN][1000 genomes]
rs4871165	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871166	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871167	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4871169	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61074667	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469994	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67731008	0.81[EUR][1000 genomes]
rs6997513	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7016750	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7016899	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7017023	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7017048	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7357563	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122158200-122169800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:122158400-122165800	Weak transcription	A549	lung
3	chr8:122158600-122165200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:122160000-122165600	Weak transcription	NHLF	lung
5	chr8:122160200-122165800	Weak transcription	HMEC	breast
6	chr8:122160200-122166000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:122160200-122166000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:122161000-122166000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:122161000-122167400	Weak transcription	Fetal Stomach	stomach
10	chr8:122163600-122166600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:122163800-122165800	Weak transcription	Fetal Intestine Small	intestine
12	chr8:122163800-122166200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:122163800-122166200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:122163800-122167400	Weak transcription	Fetal Intestine Large	intestine
15	chr8:122164000-122165000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:122164000-122165000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:122164000-122166000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:122164000-122166200	Weak transcription	Stomach Mucosa	stomach
19	chr8:122164000-122169200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:122164200-122165200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:122164200-122165200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:122164200-122166200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:122164400-122165800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:122164800-122165200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:122164800-122166200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:122164800-122168400	Enhancers	Hela-S3	cervix
27	chr8:122164800-122168600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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