Variant report

Variant	rs72666652
Chromosome Location	chr8:99586536-99586537
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	chr8:99580951..99583147-chr8:99585319..99588307,2	MCF-7	breast:
2	chr8:99586001..99587844-chr8:99593892..99596537,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10282835	1.00[ASN][1000 genomes]
rs10504986	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11785588	1.00[ASN][1000 genomes]
rs12386830	1.00[ASN][1000 genomes]
rs16896995	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897028	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897050	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897058	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897069	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897111	1.00[ASN][1000 genomes]
rs28621642	1.00[ASN][1000 genomes]
rs34018826	1.00[ASN][1000 genomes]
rs34329419	0.86[EUR][1000 genomes]
rs4554439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4615538	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55793219	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55807423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55878650	1.00[ASN][1000 genomes]
rs55921088	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933347	1.00[ASN][1000 genomes]
rs55947965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56099380	1.00[ASN][1000 genomes]
rs56185259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56290864	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56356780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982282	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982285	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666612	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666616	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666618	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666619	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666623	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666624	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666625	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666629	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666633	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666680	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666688	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666689	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666690	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666699	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668403	1.00[ASN][1000 genomes]
rs72668407	1.00[ASN][1000 genomes]
rs72668412	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73699303	1.00[ASN][1000 genomes]
rs7817630	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7835203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839115	1.00[ASN][1000 genomes]
rs7842869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv611808	chr8:99544765-99591736	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv1030498	chr8:99545493-99607093	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99544600-99587000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:99553600-99589600	Weak transcription	Fetal Stomach	stomach
3	chr8:99554800-99593200	Weak transcription	K562	blood
4	chr8:99556200-99606200	Weak transcription	Psoas Muscle	Psoas
5	chr8:99559600-99586600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:99559600-99596200	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:99559800-99588400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:99559800-99601600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:99560200-99586600	Weak transcription	Liver	Liver
10	chr8:99560400-99592800	Weak transcription	Left Ventricle	heart
11	chr8:99560400-99593400	Weak transcription	Aorta	Aorta
12	chr8:99560400-99602200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr8:99570800-99587000	Weak transcription	NHEK	skin
14	chr8:99572400-99586600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:99573000-99586800	Weak transcription	NHDF-Ad	bronchial
16	chr8:99578200-99610000	Weak transcription	HSMMtube	muscle
17	chr8:99582000-99589800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:99582200-99589000	Weak transcription	Fetal Thymus	thymus
19	chr8:99583400-99602200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:99583800-99589200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:99584600-99602400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:99585000-99589400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:99585400-99586600	Weak transcription	Fetal Heart	heart
24	chr8:99585600-99586600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:99585800-99602200	Weak transcription	Pancreas	Pancrea
26	chr8:99585800-99609800	Weak transcription	Small Intestine	intestine
27	chr8:99586000-99587800	Strong transcription	Ovary	ovary
28	chr8:99586000-99588200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:99586200-99586600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:99586200-99587000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:99586200-99587000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr8:99586200-99587200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
33	chr8:99586200-99587400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:99586200-99591400	Strong transcription	Placenta	Placenta
35	chr8:99586200-99602000	Weak transcription	Fetal Intestine Large	intestine
36	chr8:99586400-99586600	ZNF genes & repeats	HSMM	muscle
37	chr8:99586400-99587000	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr8:99586400-99587200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:99586400-99587200	ZNF genes & repeats	Dnd41	blood
40	chr8:99586400-99587600	Strong transcription	Fetal Lung	lung
41	chr8:99586400-99588000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr8:99586400-99588200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:99586400-99588400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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