Variant report

Variant	rs36048422
Chromosome Location	chr8:11417144-11417145
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	BCL3	chr8:11416115-11417171	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:11415755-11417303	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:11415618-11417359	GM12891	blood:	n/a	n/a
4	POLR2A	chr8:11415545-11417663	GM12891	blood:	n/a	n/a
5	POLR2A	chr8:11415636-11417486	GM12892	blood:	n/a	n/a
6	POLR2A	chr8:11413519-11417463	GM18505	blood:	n/a	n/a
7	POLR2A	chr8:11415962-11417401	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:11414495-11417389	GM12878	blood:	n/a	n/a
9	STAT5A	chr8:11415838-11419365	GM12878	blood:	n/a	chr8:11417392-11417400 chr8:11417392-11417401 chr8:11416737-11416745 chr8:11416410-11416422 chr8:11417391-11417400
10	POLR2A	chr8:11415079-11419236	GM12892	blood:	n/a	n/a
11	POLR2A	chr8:11412687-11419386	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:11414995-11417413	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:11415925-11417452	GM12891	blood:	n/a	n/a
14	PML	chr8:11415891-11417168	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:11414547-11419114	GM12878	blood:	n/a	n/a
16	BCLAF1	chr8:11416733-11417157	GM12878	blood:	n/a	n/a
17	NFATC1	chr8:11416040-11417700	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:11415982-11417359	GM12892	blood:	n/a	n/a
19	POLR2A	chr8:11408969-11419349	GM12878	blood:	n/a	n/a
20	NFATC1	chr8:11415842-11417477	GM12878	blood:	n/a	n/a
21	MTA3	chr8:11415326-11417439	GM12878	blood:	n/a	n/a
22	POLR2A	chr8:11414142-11417452	GM12878	blood:	n/a	n/a
23	BCLAF1	chr8:11415996-11417235	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:11415880-11417372	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255518	TF binding region
BLK	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10098664	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10108511	0.82[EUR][1000 genomes]
rs1042701	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985709	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991139	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12541800	0.87[EUR][1000 genomes]
rs12549144	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12549150	0.87[EUR][1000 genomes]
rs13280813	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1382563	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17153454	0.84[ASN][1000 genomes]
rs2127127	0.86[AMR][1000 genomes]
rs2409797	0.82[EUR][1000 genomes]
rs2409798	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2409799	0.80[AMR][1000 genomes]
rs34190028	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35181953	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4841559	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841564	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4841567	0.83[AMR][1000 genomes]
rs6983727	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831039	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7843987	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650661	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv520117	chr8:11391650-11429147	Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv465466	chr8:11391650-11429147	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv610289	chr8:11391650-11429147	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2761407	chr8:11392880-11429147	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1029589	chr8:11392880-11429147	ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv523827	chr8:11408401-11486220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs36048422	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs36048422	BLK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11404600-11418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:11404800-11421800	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr8:11406000-11417600	Genic enhancers	Primary B cells from cord blood	blood
4	chr8:11410400-11419600	Enhancers	Fetal Thymus	thymus
5	chr8:11414400-11417600	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:11414600-11417400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:11414600-11417600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:11414800-11417400	Enhancers	Thymus	Thymus
9	chr8:11415000-11417200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:11415000-11417400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:11415600-11417200	Enhancers	Adipose Nuclei	Adipose
12	chr8:11416200-11421600	Weak transcription	Spleen	Spleen
13	chr8:11417000-11417400	Genic enhancers	Dnd41	blood
14	chr8:11417000-11419800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:11417000-11421000	Strong transcription	GM12878-XiMat	blood
16	chr8:11417000-11421600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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