Variant report

Variant	rs13280593
Chromosome Location	chr8:10190861-10190862
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10182025..10184201-chr8:10189131..10192259,3	K562	blood:
2	chr8:9898822..9899498-chr8:10190113..10190904,3	K562	blood:

Variant related genes	Relation type
ENSG00000175806	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10086995	1.00[EUR][1000 genomes]
rs10098637	1.00[EUR][1000 genomes]
rs10101698	1.00[EUR][1000 genomes]
rs11784828	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs13258224	0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151819	1.00[EUR][1000 genomes]
rs17151838	1.00[EUR][1000 genomes]
rs17151840	1.00[EUR][1000 genomes]
rs17151867	1.00[EUR][1000 genomes]
rs17151871	1.00[EUR][1000 genomes]
rs17151875	1.00[EUR][1000 genomes]
rs17151882	1.00[EUR][1000 genomes]
rs4840477	1.00[EUR][1000 genomes]
rs4841316	1.00[EUR][1000 genomes]
rs59767984	1.00[EUR][1000 genomes]
rs60595937	1.00[EUR][1000 genomes]
rs6601434	1.00[EUR][1000 genomes]
rs6601437	1.00[EUR][1000 genomes]
rs6988687	1.00[EUR][1000 genomes]
rs6997398	1.00[EUR][1000 genomes]
rs7009948	1.00[EUR][1000 genomes]
rs73534551	1.00[EUR][1000 genomes]
rs73534552	1.00[EUR][1000 genomes]
rs73534561	1.00[EUR][1000 genomes]
rs7830402	0.87[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10176600-10191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:10179400-10191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:10179400-10191200	Weak transcription	Fetal Intestine Small	intestine
4	chr8:10179400-10191200	Weak transcription	Pancreas	Pancrea
5	chr8:10179400-10192000	Weak transcription	Aorta	Aorta
6	chr8:10182600-10192000	Weak transcription	Right Ventricle	heart
7	chr8:10186800-10192200	Enhancers	Fetal Brain Male	brain
8	chr8:10188000-10191200	Enhancers	Fetal Brain Female	brain
9	chr8:10189000-10191600	Enhancers	Brain Angular Gyrus	brain
10	chr8:10189600-10191200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr8:10189600-10191400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:10189600-10191600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr8:10189800-10191200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr8:10189800-10191600	Enhancers	Brain Anterior Caudate	brain
15	chr8:10189800-10191600	Enhancers	Brain Cingulate Gyrus	brain
16	chr8:10189800-10192000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:10190000-10191000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:10190000-10191200	Enhancers	Brain Substantia Nigra	brain
19	chr8:10190000-10191400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:10190000-10191400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:10190000-10191400	Enhancers	Fetal Thymus	thymus
22	chr8:10190000-10191600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr8:10190000-10191600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr8:10190000-10191600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:10190000-10191600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:10190000-10191800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr8:10190000-10191800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr8:10190000-10192800	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr8:10190200-10191000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:10190200-10191200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:10190200-10191200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr8:10190200-10191400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:10190200-10191400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:10190200-10191400	Enhancers	Rectal Smooth Muscle	rectum
35	chr8:10190200-10191600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr8:10190200-10191600	Enhancers	Adipose Nuclei	Adipose
37	chr8:10190200-10191600	Enhancers	Colon Smooth Muscle	Colon
38	chr8:10190200-10191600	Enhancers	Duodenum Mucosa	Duodenum
39	chr8:10190200-10191800	Enhancers	Primary hematopoietic stem cells	blood
40	chr8:10190200-10191800	Weak transcription	Colonic Mucosa	Colon
41	chr8:10190200-10191800	Enhancers	Thymus	Thymus
42	chr8:10190200-10191800	Flanking Active TSS	GM12878-XiMat	blood
43	chr8:10190200-10192000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr8:10190200-10192000	Enhancers	Primary B cells from peripheral blood	blood
45	chr8:10190400-10191000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:10190400-10191400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:10190400-10191400	Enhancers	A549	lung
48	chr8:10190400-10191400	Enhancers	NH-A	brain
49	chr8:10190400-10191600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:10190400-10191600	Enhancers	Primary B cells from cord blood	blood

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