Variant report

Variant	rs73662640
Chromosome Location	chr8:10692031-10692032
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10690421..10694581-chr8:10695821..10698975,5	MCF-7	breast:
2	chr8:10687146..10690339-chr8:10690695..10692954,3	K562	blood:

Variant related genes	Relation type
ENSG00000254093	Chromatin interaction
ENSG00000258724	Chromatin interaction
ENSG00000253695	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11997941	1.00[ASN][1000 genomes]
rs12546540	1.00[ASN][1000 genomes]
rs13275368	1.00[ASN][1000 genomes]
rs2033368	1.00[ASN][1000 genomes]
rs2409652	1.00[ASN][1000 genomes]
rs2409653	1.00[ASN][1000 genomes]
rs2409654	1.00[ASN][1000 genomes]
rs2409655	1.00[ASN][1000 genomes]
rs2409656	1.00[ASN][1000 genomes]
rs2409666	1.00[ASN][1000 genomes]
rs2898244	1.00[ASN][1000 genomes]
rs34535545	1.00[ASN][1000 genomes]
rs35873156	1.00[ASN][1000 genomes]
rs55875811	1.00[AMR][1000 genomes]
rs56344910	1.00[AMR][1000 genomes]
rs60666967	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61064518	1.00[ASN][1000 genomes]
rs6984171	1.00[ASN][1000 genomes]
rs6990041	1.00[ASN][1000 genomes]
rs6993753	1.00[ASN][1000 genomes]
rs73209946	1.00[ASN][1000 genomes]
rs73662624	1.00[AMR][1000 genomes]
rs73662628	1.00[AMR][1000 genomes]
rs73662629	1.00[AMR][1000 genomes]
rs73662630	1.00[AMR][1000 genomes]
rs73662631	1.00[AMR][1000 genomes]
rs73662632	1.00[AMR][1000 genomes]
rs73662634	1.00[AMR][1000 genomes]
rs73662635	1.00[AMR][1000 genomes]
rs73662636	1.00[AMR][1000 genomes]
rs73662637	1.00[AMR][1000 genomes]
rs73662638	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73662639	1.00[AMR][1000 genomes]
rs73662641	1.00[AMR][1000 genomes]
rs73662642	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73662643	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73662644	1.00[AMR][1000 genomes]
rs73662645	1.00[AMR][1000 genomes]
rs753786	1.00[ASN][1000 genomes]
rs7814489	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers 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	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:10666400-10695200	Strong transcription	Primary T cells from cord blood	blood
3	chr8:10666800-10692400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:10667600-10693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:10668400-10696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:10669200-10692800	Strong transcription	Primary B cells from cord blood	blood
7	chr8:10669400-10692200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr8:10669600-10692800	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:10670400-10692800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:10673200-10692200	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr8:10673200-10692400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:10674400-10692800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:10674600-10692200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:10674600-10692200	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:10674600-10693200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:10674800-10696200	Weak transcription	Stomach Mucosa	stomach
17	chr8:10675000-10693000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:10676200-10696200	Weak transcription	Fetal Heart	heart
19	chr8:10677200-10692400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:10677200-10692400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:10677200-10692400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:10678400-10692200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr8:10678400-10692800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr8:10678600-10692400	Strong transcription	Left Ventricle	heart
25	chr8:10678800-10692400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:10679200-10693000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:10680400-10692200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:10680400-10692800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:10680400-10692800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr8:10680400-10692800	Strong transcription	Dnd41	blood
31	chr8:10680600-10692200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr8:10680600-10692400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:10680800-10693000	Strong transcription	Liver	Liver
34	chr8:10683200-10696000	Weak transcription	NHLF	lung
35	chr8:10683600-10696200	Weak transcription	Fetal Kidney	kidney
36	chr8:10683800-10692400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:10683800-10692800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:10684400-10696200	Weak transcription	NHDF-Ad	bronchial
39	chr8:10686200-10696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:10686400-10696400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:10686600-10693200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr8:10687400-10692200	Strong transcription	Fetal Thymus	thymus
43	chr8:10687400-10692400	Strong transcription	Hela-S3	cervix
44	chr8:10687400-10693000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:10687800-10692200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:10687800-10692200	Strong transcription	Fetal Lung	lung
47	chr8:10687800-10692200	Strong transcription	A549	lung
48	chr8:10687800-10692400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:10687800-10692400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:10687800-10692400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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