Variant report

Variant	rs72717853
Chromosome Location	chr1:171564392-171564393
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	chr1:171557033..171558814-chr1:171564305..171566084,2	K562	blood:
2	chr1:171556792..171560985-chr1:171562701..171566084,6	K562	blood:

Variant related genes	Relation type
ENSG00000117523	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10913119	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10913149	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10913157	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10913285	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10913292	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564279	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12567152	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2038040	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2038041	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2038043	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2294291	0.87[ASN][1000 genomes]
rs3204333	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57562814	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60014783	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6669168	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6676140	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6681173	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6702038	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72717832	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72717839	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72717840	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72717854	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7517178	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7521480	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7522026	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171522800-171564400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:171524200-171564400	Strong transcription	Adipose Nuclei	Adipose
3	chr1:171524400-171564400	Strong transcription	Fetal Thymus	thymus
4	chr1:171524400-171564600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:171524400-171566400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:171525800-171564400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:171528400-171564600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:171528600-171564400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:171529400-171564800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:171529600-171566200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:171539000-171565000	Strong transcription	Primary T cells from cord blood	blood
12	chr1:171539600-171565200	Weak transcription	Fetal Heart	heart
13	chr1:171543600-171564800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:171554400-171568400	Weak transcription	Psoas Muscle	Psoas
15	chr1:171556000-171564800	Strong transcription	Primary B cells from cord blood	blood
16	chr1:171556800-171567600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:171558800-171564600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:171558800-171573200	Weak transcription	Small Intestine	intestine
19	chr1:171559600-171564400	Strong transcription	NH-A	brain
20	chr1:171559600-171564600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:171560200-171564600	Strong transcription	Fetal Stomach	stomach
22	chr1:171561200-171565000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:171561200-171569800	Weak transcription	Pancreas	Pancrea
24	chr1:171561600-171570000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:171561600-171572200	Weak transcription	Aorta	Aorta
26	chr1:171561800-171564400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:171561800-171564400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:171561800-171565000	Weak transcription	Ovary	ovary
29	chr1:171561800-171565200	Weak transcription	Hela-S3	cervix
30	chr1:171561800-171565400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:171561800-171565400	Weak transcription	Brain Angular Gyrus	brain
32	chr1:171561800-171565400	Weak transcription	Esophagus	oesophagus
33	chr1:171561800-171565400	Weak transcription	Left Ventricle	heart
34	chr1:171561800-171565400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:171561800-171565400	Weak transcription	GM12878-XiMat	blood
36	chr1:171561800-171566000	Weak transcription	Fetal Lung	lung
37	chr1:171561800-171566000	Weak transcription	Gastric	stomach
38	chr1:171561800-171566200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:171561800-171567000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:171561800-171567600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:171561800-171568000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:171561800-171568000	Weak transcription	K562	blood
43	chr1:171561800-171570200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:171561800-171570200	Weak transcription	Lung	lung
45	chr1:171561800-171570400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:171561800-171572200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:171561800-171576600	Weak transcription	Brain Substantia Nigra	brain
48	chr1:171562000-171565800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:171562000-171568000	Weak transcription	Thymus	Thymus
50	chr1:171562000-171568200	Weak transcription	NHDF-Ad	bronchial

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