Variant report

Variant	rs13280613
Chromosome Location	chr8:103257578-103257579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr8:103257455-103257666	T-47D	breast:	n/a	n/a
2	POLR2A	chr8:103257476-103257943	GM12891	blood:	n/a	n/a
3	FOXA1	chr8:103257465-103257761	T-47D	breast:	n/a	n/a
4	POLR2A	chr8:103257531-103258426	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103250463..103253576-chr8:103253593..103260199,5	K562	blood:
2	chr8:103257395..103259930-chr8:103268711..103270490,2	K562	blood:

Variant related genes	Relation type
SUMO2P19	TF binding region
ENSG00000048392	Chromatin interaction
ENSG00000246263	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1037699	1.00[ASN][1000 genomes]
rs1037700	1.00[ASN][1000 genomes]
rs11774038	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774772	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11778468	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11780954	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781662	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11782557	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784155	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13259118	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13261195	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266055	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13267660	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13268552	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13270916	0.91[AMR][1000 genomes]
rs13273642	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13278113	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16869344	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869352	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869362	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869417	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2305832	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28973252	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28998469	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34002127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34609465	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34694718	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34782477	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34837214	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34852161	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35090306	0.91[AMR][1000 genomes]
rs35101027	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35368426	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35537579	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35624360	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35769335	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35771800	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3735723	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518853	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518855	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71518860	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs718165	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73698742	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7840355	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843178	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	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
9	nsv891242	chr8:103210971-103282418	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv891243	chr8:103219629-103292724	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103252000-103268400	Weak transcription	Small Intestine	intestine
2	chr8:103252200-103263000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:103252200-103268800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:103252200-103269400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:103252200-103273600	Weak transcription	Esophagus	oesophagus
6	chr8:103252200-103273600	Weak transcription	Spleen	Spleen
7	chr8:103252200-103273800	Weak transcription	Lung	lung
8	chr8:103252200-103292800	Weak transcription	Gastric	stomach
9	chr8:103252200-103318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:103252400-103260200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:103252400-103262400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:103252400-103263000	Weak transcription	Fetal Thymus	thymus
13	chr8:103252400-103263200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:103252400-103263200	Weak transcription	Placenta	Placenta
15	chr8:103252400-103263400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:103252400-103263400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:103252400-103263800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:103252400-103265000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:103252400-103265200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:103252400-103266200	Weak transcription	Brain Angular Gyrus	brain
21	chr8:103252400-103266200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:103252400-103266200	Weak transcription	Left Ventricle	heart
23	chr8:103252400-103266200	Weak transcription	HSMMtube	muscle
24	chr8:103252400-103268800	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:103252400-103269200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:103252400-103271800	Weak transcription	Right Ventricle	heart
27	chr8:103252400-103272000	Weak transcription	Fetal Stomach	stomach
28	chr8:103252400-103273800	Weak transcription	Pancreas	Pancrea
29	chr8:103252400-103276000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:103252400-103280200	Weak transcription	Aorta	Aorta
31	chr8:103252400-103292400	Weak transcription	Psoas Muscle	Psoas
32	chr8:103252600-103260000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:103252600-103262800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:103252600-103262800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:103252600-103262800	Weak transcription	NHDF-Ad	bronchial
36	chr8:103252600-103263200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:103252600-103263200	Weak transcription	Primary T cells from cord blood	blood
38	chr8:103252600-103263400	Weak transcription	NHLF	lung
39	chr8:103252600-103263400	Weak transcription	Osteobl	bone
40	chr8:103252600-103263600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:103252600-103264000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:103252600-103264000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:103252600-103264800	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:103252600-103265200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:103252600-103266200	Weak transcription	Brain Substantia Nigra	brain
46	chr8:103252600-103267800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:103252600-103268400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:103252600-103268800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr8:103252600-103268800	Weak transcription	Thymus	Thymus
50	chr8:103252600-103276000	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links