Variant report

Variant	rs72674630
Chromosome Location	chr8:100489240-100489241
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	chr8:100486979..100489783-chr8:100490347..100493276,2	MCF-7	breast:
2	chr8:100464584..100466784-chr8:100489016..100491472,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55872262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56229504	1.00[ASN][1000 genomes]
rs72672324	1.00[ASN][1000 genomes]
rs72672332	1.00[ASN][1000 genomes]
rs72672386	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674604	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674632	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674659	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674660	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674682	1.00[ASN][1000 genomes]
rs72674688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693641	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1031100	chr8:100290887-100508952	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv539697	chr8:100290887-100508952	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
12	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
13	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
14	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
15	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
17	nsv933504	chr8:100443818-100493791	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100399800-100498400	Weak transcription	Thymus	Thymus
2	chr8:100443800-100493800	Weak transcription	Pancreas	Pancrea
3	chr8:100446200-100500400	Weak transcription	Fetal Thymus	thymus
4	chr8:100471400-100500800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:100473200-100493800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:100473200-100493800	Weak transcription	Left Ventricle	heart
7	chr8:100473200-100504600	Weak transcription	Aorta	Aorta
8	chr8:100473200-100508000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:100473200-100510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:100473400-100493800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:100473400-100494200	Weak transcription	Fetal Heart	heart
12	chr8:100473400-100526000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:100473600-100493600	Weak transcription	HSMM	muscle
14	chr8:100473600-100493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:100473600-100493800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:100473600-100493800	Weak transcription	NHDF-Ad	bronchial
17	chr8:100473600-100493800	Weak transcription	NHLF	lung
18	chr8:100473600-100494000	Weak transcription	Liver	Liver
19	chr8:100473600-100497600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr8:100473600-100504400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:100473600-100508000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:100473600-100508000	Weak transcription	Small Intestine	intestine
23	chr8:100473800-100500600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:100474000-100489800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:100474000-100493800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:100474000-100493800	Weak transcription	Fetal Lung	lung
27	chr8:100474000-100498600	Weak transcription	Ovary	ovary
28	chr8:100474000-100510800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:100474200-100493800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:100474400-100493800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:100474400-100515400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:100475200-100494000	Weak transcription	Dnd41	blood
33	chr8:100476800-100499000	Weak transcription	Lung	lung
34	chr8:100477000-100498800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:100477200-100507400	Weak transcription	Osteobl	bone
36	chr8:100477400-100502200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:100477800-100494000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:100478200-100507200	Weak transcription	NH-A	brain
39	chr8:100478400-100493200	Weak transcription	HSMMtube	muscle
40	chr8:100478600-100499800	Weak transcription	GM12878-XiMat	blood
41	chr8:100479200-100493800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr8:100479400-100508000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:100479800-100504400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:100480000-100493800	Weak transcription	Fetal Intestine Large	intestine
45	chr8:100480200-100493600	Weak transcription	Adipose Nuclei	Adipose
46	chr8:100480200-100493800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:100480200-100493800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:100480400-100492600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:100480800-100493800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr8:100481000-100493800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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