Variant report

Variant	rs13259118
Chromosome Location	chr8:103364491-103364492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103363082..103364841-chr8:103374686..103377260,2	K562	blood:
2	chr8:103363341..103365795-chr8:103374362..103376186,2	K562	blood:
3	chr8:103357887..103360828-chr8:103363421..103365369,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1037699	0.81[ASN][1000 genomes]
rs1037700	0.81[ASN][1000 genomes]
rs11774038	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11774772	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778468	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780954	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11781662	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782557	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11784155	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261195	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13266055	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267660	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268552	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270916	0.81[ASN][1000 genomes]
rs13273642	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278113	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13280613	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16869344	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16869352	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16869362	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16869417	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305832	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28973252	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28998469	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34002127	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34609465	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34694718	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34782477	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34837214	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34852161	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35090306	0.81[ASN][1000 genomes]
rs35368426	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35537579	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35624360	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35769335	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35771800	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735723	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71518853	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71518855	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518860	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718165	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73698742	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840355	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7843178	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103330000-103375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:103335400-103373200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr8:103335400-103373400	Strong transcription	Fetal Thymus	thymus
4	chr8:103335400-103373600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:103335800-103370200	Strong transcription	Dnd41	blood
6	chr8:103337000-103380000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:103340800-103379400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:103344200-103373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:103344600-103364800	Weak transcription	Fetal Heart	heart
10	chr8:103345400-103364800	Weak transcription	Stomach Mucosa	stomach
11	chr8:103345400-103365000	Weak transcription	Gastric	stomach
12	chr8:103345400-103372000	Weak transcription	Small Intestine	intestine
13	chr8:103345400-103379800	Weak transcription	Aorta	Aorta
14	chr8:103346400-103373200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:103347400-103373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:103348000-103373400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr8:103350000-103366400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:103353800-103373000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:103354000-103364800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:103354000-103378400	Weak transcription	Fetal Brain Male	brain
21	chr8:103355000-103364800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:103355000-103371000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:103355000-103379400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:103355000-103379400	Weak transcription	Psoas Muscle	Psoas
25	chr8:103355000-103379600	Weak transcription	Right Ventricle	heart
26	chr8:103355000-103380600	Weak transcription	Brain Angular Gyrus	brain
27	chr8:103355400-103364800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:103355400-103373600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:103356600-103366400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:103356600-103373200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:103357000-103370000	Strong transcription	Fetal Intestine Large	intestine
32	chr8:103357400-103372200	Strong transcription	GM12878-XiMat	blood
33	chr8:103357800-103371200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:103358600-103369200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:103359200-103371200	Weak transcription	Fetal Kidney	kidney
36	chr8:103359200-103374600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr8:103359400-103365200	Weak transcription	Fetal Brain Female	brain
38	chr8:103359400-103365200	Weak transcription	HUVEC	blood vessel
39	chr8:103359400-103365400	Weak transcription	NH-A	brain
40	chr8:103359400-103367800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:103359400-103369200	Weak transcription	Colonic Mucosa	Colon
42	chr8:103359400-103371000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr8:103359400-103375200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:103359600-103365000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:103359600-103367000	Weak transcription	Ovary	ovary
46	chr8:103359800-103364800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:103359800-103365000	Weak transcription	K562	blood
48	chr8:103359800-103365400	Weak transcription	NHLF	lung
49	chr8:103359800-103365600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:103359800-103367000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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