Variant report

Variant	rs13264301
Chromosome Location	chr8:126016402-126016403
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125826305..125827862-chr8:126015361..126017924,2	K562	blood:
2	chr8:126016193..126019886-chr8:126029676..126033691,5	MCF-7	breast:
3	chr8:125866182..125867847-chr8:126013672..126016606,2	MCF-7	breast:
4	chr8:126014428..126016789-chr8:126018572..126020682,2	K562	blood:
5	chr8:126016227..126018490-chr8:126018578..126021256,2	MCF-7	breast:
6	chr8:126014427..126016816-chr8:126029533..126032049,2	K562	blood:
7	chr8:126013869..126016099-chr8:126016207..126018395,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0196-5	chr8:126016112-126016577	l_3677_chr8:126016111-126021316_testes

No data

Variant related genes	Relation type
ENSG00000104549	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10086228	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10092712	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10095967	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10096319	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10097947	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10104486	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10107270	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10111425	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1019705	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12542195	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12546285	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12676128	0.84[ASN][1000 genomes]
rs13248796	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13263702	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13282919	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2217132	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288310	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288312	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2303522	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2303525	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2384921	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28716650	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34818959	0.83[AMR][1000 genomes]
rs4871568	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6470326	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6989556	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6991343	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7003069	0.81[AMR][1000 genomes]
rs9297709	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs966945	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr8:126011600-126016600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:126011800-126016600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:126011800-126034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:126012400-126029200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:126012600-126017400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:126012600-126017600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:126012600-126017800	Weak transcription	Psoas Muscle	Psoas
8	chr8:126012600-126019800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:126012600-126020400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:126012600-126020400	Weak transcription	Left Ventricle	heart
11	chr8:126012600-126027000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:126012600-126029000	Weak transcription	Colonic Mucosa	Colon
13	chr8:126013000-126016600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:126013200-126018000	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr8:126013200-126019600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:126013200-126024200	Weak transcription	Gastric	stomach
17	chr8:126013200-126028200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:126013200-126029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:126013400-126017600	Weak transcription	Adipose Nuclei	Adipose
20	chr8:126013400-126017800	Weak transcription	Fetal Intestine Large	intestine
21	chr8:126013400-126029200	Weak transcription	Lung	lung
22	chr8:126013400-126029200	Weak transcription	Spleen	Spleen
23	chr8:126013400-126029400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:126013400-126040400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:126013400-126042600	Weak transcription	Right Ventricle	heart
26	chr8:126013600-126018000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:126013600-126019600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:126013600-126020800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:126013600-126024000	Weak transcription	Fetal Kidney	kidney
30	chr8:126013600-126024200	Weak transcription	Primary T cells from cord blood	blood
31	chr8:126013600-126028800	Weak transcription	Thymus	Thymus
32	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:126013800-126019600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:126013800-126019600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr8:126013800-126020800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:126013800-126024000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:126013800-126024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:126013800-126024200	Weak transcription	Esophagus	oesophagus
39	chr8:126013800-126029000	Weak transcription	Ovary	ovary
40	chr8:126014000-126020800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:126014200-126017600	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:126014200-126019800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr8:126014200-126026200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:126014200-126029200	Weak transcription	Fetal Intestine Small	intestine
45	chr8:126014400-126017600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr8:126014400-126017800	Enhancers	Fetal Brain Male	brain
47	chr8:126014400-126018200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:126014400-126020400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:126014400-126024000	Weak transcription	Fetal Heart	heart
50	chr8:126014400-126027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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