Variant report

Variant	rs72724446
Chromosome Location	chr8:131341288-131341289
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:131338752..131343749-chr8:131347668..131351929,6	K562	blood:
2	chr8:131340635..131342968-chr8:131350699..131352695,2	MCF-7	breast:
3	chr8:131340148..131342762-chr8:131349307..131352128,2	K562	blood:
4	chr8:131335598..131338253-chr8:131338429..131341406,2	MCF-7	breast:
5	chr8:131332115..131335468-chr8:131338120..131341741,4	MCF-7	breast:
6	chr8:131340477..131342836-chr8:131369281..131371407,2	K562	blood:
7	chr8:131340477..131343144-chr8:131369207..131371407,2	K562	blood:
8	chr8:131340112..131342181-chr8:131360380..131363177,2	K562	blood:
9	chr8:131336690..131338851-chr8:131341065..131343497,2	K562	blood:
10	chr8:131335044..131338190-chr8:131340619..131343497,3	K562	blood:
11	chr8:131338191..131341349-chr8:131343744..131346974,4	K562	blood:
12	chr8:131340170..131343751-chr8:131358170..131360964,3	MCF-7	breast:
13	chr8:131327964..131329913-chr8:131340492..131342664,2	K562	blood:

No data

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs11774346	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11774686	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11774901	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11775172	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11775309	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11775609	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11776262	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11776732	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11776768	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11776863	1.00[AFR][1000 genomes]
rs11777289	0.81[AMR][1000 genomes]
rs11777909	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11778072	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11778368	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11778504	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11778593	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11778712	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11778881	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11781211	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11782152	1.00[AFR][1000 genomes]
rs11783764	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11784477	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11784842	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11784988	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11785125	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11785172	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11785286	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11785806	0.82[AMR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11787251	1.00[AFR][1000 genomes]
rs56162445	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56350423	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs57315235	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6981708	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6981861	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6982030	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6991549	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6992270	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7006802	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722347	1.00[AFR][1000 genomes]
rs72722349	1.00[AFR][1000 genomes]
rs72722355	1.00[AFR][1000 genomes]
rs72722360	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72722361	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72722368	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72722370	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72722372	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722374	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722375	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722379	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722380	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722381	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722384	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722386	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722388	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722392	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722393	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722394	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722396	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722397	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722399	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724412	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724421	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724437	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724447	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724449	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724451	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724452	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724453	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724454	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724455	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724460	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724461	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724473	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724487	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72724490	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72724502	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726203	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726204	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726205	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726216	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726217	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726223	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726225	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726226	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72726227	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72726229	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72726231	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72726232	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72726234	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72726236	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72726241	0.81[AMR][1000 genomes]
rs72726244	0.81[AMR][1000 genomes]
rs7826256	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7836273	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs929990	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:131315600-131353400	Weak transcription	Dnd41	blood
3	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
4	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:131327000-131345600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
8	chr8:131331000-131342400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:131332600-131341400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:131332600-131342600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:131332600-131344800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:131333200-131344200	Enhancers	NHDF-Ad	bronchial
13	chr8:131333400-131343000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:131334800-131346600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:131335200-131347400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:131335400-131344200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:131335600-131342200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:131335600-131343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:131336000-131350200	Weak transcription	Fetal Brain Female	brain
20	chr8:131336200-131347800	Weak transcription	Liver	Liver
21	chr8:131336400-131342000	Weak transcription	Brain Germinal Matrix	brain
22	chr8:131336600-131346600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:131336800-131344200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:131336800-131353400	Weak transcription	Hela-S3	cervix
25	chr8:131337200-131342400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:131337200-131343400	Weak transcription	Gastric	stomach
27	chr8:131337200-131346800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:131337400-131342600	Weak transcription	Small Intestine	intestine
30	chr8:131337400-131346000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:131337400-131346200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:131337400-131350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:131337600-131342000	Weak transcription	Brain Angular Gyrus	brain
34	chr8:131337800-131342600	Weak transcription	Thymus	Thymus
35	chr8:131338000-131341400	Weak transcription	Fetal Kidney	kidney
36	chr8:131338000-131343600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:131338400-131343000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr8:131338400-131350200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
40	chr8:131338600-131341400	Weak transcription	HUVEC	blood vessel
41	chr8:131338600-131342600	Weak transcription	Colonic Mucosa	Colon
42	chr8:131338600-131347400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:131338800-131342000	Weak transcription	Fetal Lung	lung
44	chr8:131338800-131343600	Weak transcription	Primary T cells from cord blood	blood
45	chr8:131338800-131343800	Enhancers	K562	blood
46	chr8:131339000-131342200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:131339200-131341600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:131339200-131342000	Weak transcription	Brain Hippocampus Middle	brain
49	chr8:131339200-131342000	Weak transcription	HMEC	breast
50	chr8:131339200-131342600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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