Variant report

Variant	rs13281992
Chromosome Location	chr8:11309294-11309295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11306300..11308613-chr8:11308996..11313515,5	K562	blood:
2	chr8:11302281..11304397-chr8:11308190..11310452,3	K562	blood:

Variant related genes	Relation type
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11775640	1.00[ASN][1000 genomes]
rs11775779	1.00[ASN][1000 genomes]
rs11776834	1.00[ASN][1000 genomes]
rs11778177	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780432	1.00[ASN][1000 genomes]
rs11780980	1.00[ASN][1000 genomes]
rs11781057	1.00[ASN][1000 genomes]
rs11781400	1.00[ASN][1000 genomes]
rs11784016	1.00[ASN][1000 genomes]
rs11784897	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787413	1.00[ASN][1000 genomes]
rs12156238	1.00[ASN][1000 genomes]
rs13280447	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13439415	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13439487	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409776	1.00[ASN][1000 genomes]
rs2409777	1.00[ASN][1000 genomes]
rs2409779	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485693	1.00[ASN][1000 genomes]
rs28680779	1.00[ASN][1000 genomes]
rs34281672	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34365278	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34443092	1.00[ASN][1000 genomes]
rs34906655	1.00[ASN][1000 genomes]
rs35451013	1.00[ASN][1000 genomes]
rs35619722	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35822699	1.00[ASN][1000 genomes]
rs36043848	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4606022	1.00[ASN][1000 genomes]
rs4840570	1.00[ASN][1000 genomes]
rs4841541	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4841548	1.00[ASN][1000 genomes]
rs4841560	1.00[ASN][1000 genomes]
rs56302795	1.00[ASN][1000 genomes]
rs57526558	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66617246	1.00[ASN][1000 genomes]
rs67390008	1.00[ASN][1000 genomes]
rs6984115	1.00[ASN][1000 genomes]
rs7823274	1.00[ASN][1000 genomes]
rs7831369	1.00[ASN][1000 genomes]
rs7831885	1.00[ASN][1000 genomes]
rs936546	1.00[ASN][1000 genomes]
rs9650624	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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13281992	BLK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11287800-11313600	Weak transcription	Right Atrium	heart
2	chr8:11292400-11313000	Weak transcription	Pancreas	Pancrea
3	chr8:11296200-11319200	Enhancers	Fetal Thymus	thymus
4	chr8:11303600-11323200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr8:11305800-11310600	Enhancers	Brain Substantia Nigra	brain
6	chr8:11305800-11312200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:11306000-11310400	Enhancers	Brain Angular Gyrus	brain
8	chr8:11306000-11310400	Enhancers	Brain Cingulate Gyrus	brain
9	chr8:11306000-11310400	Enhancers	Brain Hippocampus Middle	brain
10	chr8:11306400-11311800	Weak transcription	Gastric	stomach
11	chr8:11306400-11312200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:11306600-11311400	Weak transcription	A549	lung
13	chr8:11306800-11310400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:11307000-11311400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:11307000-11311400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:11307200-11314000	Weak transcription	Fetal Heart	heart
17	chr8:11307200-11322000	Weak transcription	HSMMtube	muscle
18	chr8:11307400-11309600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:11307400-11309800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:11307400-11312000	Weak transcription	Esophagus	oesophagus
21	chr8:11307600-11310600	Enhancers	Brain Anterior Caudate	brain
22	chr8:11307600-11312400	Weak transcription	Right Ventricle	heart
23	chr8:11307600-11319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:11307800-11311600	Weak transcription	Fetal Brain Male	brain
25	chr8:11307800-11313800	Weak transcription	NHEK	skin
26	chr8:11308000-11312000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:11308200-11311600	Weak transcription	Fetal Brain Female	brain
28	chr8:11308200-11313200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:11308200-11313400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:11308400-11314600	Enhancers	Thymus	Thymus
31	chr8:11308600-11309600	Enhancers	GM12878-XiMat	blood
32	chr8:11308600-11310600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:11308600-11314000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr8:11308600-11314800	Enhancers	Primary B cells from peripheral blood	blood
35	chr8:11308800-11309800	Enhancers	Spleen	Spleen
36	chr8:11308800-11310200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr8:11308800-11310600	Enhancers	Primary B cells from cord blood	blood
38	chr8:11308800-11313600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:11308800-11316600	Enhancers	Primary T cells from cord blood	blood
40	chr8:11309000-11309800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:11309000-11310000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:11309000-11310600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:11309200-11309800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr8:11309200-11310000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:11309200-11310000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:11309200-11310200	Enhancers	Dnd41	blood
47	chr8:11309200-11310400	Enhancers	Primary hematopoietic stem cells	blood

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