Variant report

Variant	rs13312969
Chromosome Location	chr8:90949425-90949426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90913046..90917912-chr8:90949306..90952418,7	MCF-7	breast:
2	chr8:90913376..90915525-chr8:90949213..90951083,2	K562	blood:
3	chr8:90912518..90915342-chr8:90946692..90950309,3	MCF-7	breast:
4	chr8:90913376..90915361-chr8:90949165..90951083,2	K562	blood:

Variant related genes	Relation type
ENSG00000164823	Chromatin interaction
ENSG00000207359	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10090863	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10096580	1.00[EUR][1000 genomes]
rs10504885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12541412	1.00[CEU][hapmap]
rs12541460	1.00[CEU][hapmap]
rs13312970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901369	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16901430	1.00[CEU][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16901433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16902897	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1805825	0.84[EUR][1000 genomes]
rs1805834	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs1805835	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs1805861	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1805872	1.00[CEU][hapmap]
rs1805873	1.00[TSI][hapmap]
rs1805875	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1805884	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1805905	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2023554	1.00[CEU][hapmap]
rs2280778	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs28371401	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28486026	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28764800	0.83[AFR][1000 genomes]
rs3026296	1.00[CEU][hapmap]
rs3736640	0.84[EUR][1000 genomes]
rs390993	1.00[ASW][hapmap]
rs419181	1.00[ASW][hapmap]
rs58321776	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58573572	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58922279	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60259111	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60938698	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66854331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985934	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6996173	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7005991	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7006318	0.84[EUR][1000 genomes]
rs73304457	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73304468	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73304476	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73304479	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73304487	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9297757	1.00[CEU][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes]
rs9656966	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs989385	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90915400-90966800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:90915600-90950800	Weak transcription	Stomach Mucosa	stomach
3	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
4	chr8:90916000-90961400	Weak transcription	Fetal Heart	heart
5	chr8:90916600-90969600	Weak transcription	Brain Substantia Nigra	brain
6	chr8:90917600-90953600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:90917600-90975400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:90918800-90951800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:90924800-90986600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:90925400-90952000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:90925400-90956600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:90925400-90970200	Weak transcription	Pancreas	Pancrea
13	chr8:90925400-90979200	Weak transcription	Gastric	stomach
14	chr8:90925600-90961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:90925600-90967200	Weak transcription	Colonic Mucosa	Colon
16	chr8:90925600-90975200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:90927000-90978000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:90927200-90964200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:90927600-90988400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:90927800-90951800	Weak transcription	Osteobl	bone
21	chr8:90927800-90963800	Weak transcription	NHEK	skin
22	chr8:90927800-90969800	Weak transcription	Esophagus	oesophagus
23	chr8:90927800-90970200	Weak transcription	Spleen	Spleen
24	chr8:90927800-90970400	Weak transcription	Right Ventricle	heart
25	chr8:90927800-90996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:90928000-90965200	Weak transcription	Fetal Kidney	kidney
27	chr8:90928000-90970400	Weak transcription	Small Intestine	intestine
28	chr8:90929200-90961400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:90929400-90966000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:90929800-90951200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:90931600-90965200	Weak transcription	HepG2	liver
32	chr8:90932000-90952400	Weak transcription	NHLF	lung
33	chr8:90934000-90965400	Weak transcription	Fetal Brain Female	brain
34	chr8:90935400-90951400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:90937200-90969800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:90937200-90970400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:90937200-90970400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:90937600-90949600	Weak transcription	Left Ventricle	heart
39	chr8:90937600-90952000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:90937600-90952000	Weak transcription	HSMMtube	muscle
41	chr8:90937600-90954600	Weak transcription	Brain Anterior Caudate	brain
42	chr8:90937600-90961200	Weak transcription	Psoas Muscle	Psoas
43	chr8:90937600-90969400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:90937600-90970000	Weak transcription	Lung	lung
45	chr8:90937800-90951400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:90937800-90952000	Weak transcription	Aorta	Aorta
47	chr8:90937800-90953800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:90938200-90974600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:90938400-90970000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:90938800-90963000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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