Variant report

Variant	rs72713071
Chromosome Location	chr8:125512675-125512676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125511364..125513292-chr8:125514743..125517456,3	K562	blood:
2	chr8:125504143..125506439-chr8:125511671..125514041,2	K562	blood:
3	chr8:125507259..125508866-chr8:125511438..125514054,2	MCF-7	breast:
4	chr8:125512614..125515579-chr8:125518268..125520554,3	K562	blood:
5	chr8:125507542..125509103-chr8:125511076..125513358,2	K562	blood:
6	chr8:125511432..125513995-chr8:125518857..125520463,2	MCF-7	breast:
7	chr8:125508019..125510781-chr8:125511010..125514154,3	K562	blood:
8	chr8:125508901..125512759-chr8:125549220..125552859,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10195	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253319	0.97[ASN][1000 genomes]
rs16899643	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899656	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899660	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298171	0.83[EUR][1000 genomes]
rs3812470	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812473	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3829033	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3829037	0.85[ASN][1000 genomes]
rs4330675	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527852	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4613980	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4621790	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57929284	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981043	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6989097	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997089	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017148	0.88[ASN][1000 genomes]
rs71516748	0.97[ASN][1000 genomes]
rs72713019	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72713023	0.81[EUR][1000 genomes]
rs72713032	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713042	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713045	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713053	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713055	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713059	0.83[EUR][1000 genomes]
rs72713073	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713075	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713084	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713096	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72713098	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72714708	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73704274	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643197	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS 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 miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125515800	Weak transcription	Lung	lung
2	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125489000-125519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:125489000-125541200	Weak transcription	Gastric	stomach
6	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
7	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:125496800-125513200	Weak transcription	Brain Angular Gyrus	brain
10	chr8:125496800-125521200	Weak transcription	Fetal Heart	heart
11	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:125499000-125513200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:125499000-125537200	Weak transcription	Esophagus	oesophagus
14	chr8:125499200-125515800	Weak transcription	Right Ventricle	heart
15	chr8:125499800-125515800	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:125500000-125526200	Weak transcription	Colonic Mucosa	Colon
17	chr8:125500000-125538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:125500000-125538400	Weak transcription	Psoas Muscle	Psoas
19	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
20	chr8:125500200-125530800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:125500400-125512800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:125500400-125526400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:125500600-125513800	Weak transcription	Fetal Kidney	kidney
24	chr8:125501600-125514800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr8:125501600-125514800	Weak transcription	GM12878-XiMat	blood
26	chr8:125501600-125516000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:125501600-125524600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:125501600-125535000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr8:125501800-125514800	Weak transcription	HUVEC	blood vessel
31	chr8:125502000-125513200	Weak transcription	Left Ventricle	heart
32	chr8:125502000-125515800	Weak transcription	HSMMtube	muscle
33	chr8:125502400-125514800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:125502600-125514000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:125503800-125513200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:125503800-125513200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:125503800-125514800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:125503800-125514800	Weak transcription	Brain Anterior Caudate	brain
39	chr8:125503800-125515800	Weak transcription	Thymus	Thymus
40	chr8:125503800-125518800	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:125504000-125512800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:125504000-125513200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:125504000-125513200	Weak transcription	NHEK	skin
44	chr8:125504000-125513400	Weak transcription	Fetal Brain Female	brain
45	chr8:125504000-125514000	Weak transcription	Primary B cells from cord blood	blood
46	chr8:125504000-125515400	Weak transcription	Fetal Lung	lung
47	chr8:125504000-125515800	Weak transcription	HMEC	breast
48	chr8:125504000-125518800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:125504000-125518800	Weak transcription	Brain Substantia Nigra	brain
50	chr8:125504000-125521200	Weak transcription	Brain Inferior Temporal Lobe	brain

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