Variant report

Variant	rs6988443
Chromosome Location	chr8:11416428-11416429
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	SP1	chr8:11416108-11416521	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:11415755-11417303	GM12878	blood:	n/a	n/a
4	PAX5	chr8:11415937-11416639	GM12878	blood:	n/a	chr8:11416266-11416276
5	USF2	chr8:11416199-11416877	GM12878	blood:	n/a	n/a
6	CTCF	chr8:11416346-11416471	GM19238	blood:	n/a	n/a
7	TCF12	chr8:11416117-11416484	GM12878	blood:	n/a	n/a
8	CHD2	chr8:11416091-11416753	GM12878	blood:	n/a	chr8:11416396-11416406
9	EP300	chr8:11416057-11416506	GM12878	blood:	n/a	n/a
10	EP300	chr8:11416162-11416490	GM12878	blood:	n/a	n/a
11	MAZ	chr8:11415983-11416621	GM12878	blood:	n/a	n/a
12	BHLHE40	chr8:11415961-11416847	GM12878	blood:	n/a	n/a
13	CTCF	chr8:11416387-11416462	GM19240	blood:	n/a	n/a
14	TBL1XR1	chr8:11416142-11416515	GM12878	blood:	n/a	n/a
15	CTCF	chr8:11416320-11416470	GM06990	blood:	n/a	n/a
16	POLR2A	chr8:11415618-11417359	GM12891	blood:	n/a	n/a
17	MAX	chr8:11416135-11416571	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:11415545-11417663	GM12891	blood:	n/a	n/a
19	TCF12	chr8:11416127-11416519	GM12878	blood:	n/a	n/a
20	RCOR1	chr8:11416090-11416528	GM12878	blood:	n/a	n/a
21	CTCF	chr8:11416337-11416441	GM19239	blood:	n/a	n/a
22	MXI1	chr8:11416130-11416629	GM12878	blood:	n/a	n/a
23	EBF1	chr8:11415838-11416622	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:11415636-11417486	GM12892	blood:	n/a	n/a
25	EBF1	chr8:11416028-11416606	GM12878	blood:	n/a	n/a
26	ELF1	chr8:11415887-11416626	GM12878	blood:	n/a	n/a
27	ATF2	chr8:11416020-11416567	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:11413519-11417463	GM18505	blood:	n/a	n/a
29	MAX	chr8:11416150-11416481	NB4	blood:	n/a	n/a
30	FOXM1	chr8:11415962-11416565	GM12878	blood:	n/a	n/a
31	SP1	chr8:11416073-11416584	GM12878	blood:	n/a	chr8:11416078-11416092
32	MYC	chr8:11416166-11416445	NB4	blood:	n/a	n/a
33	TCF3	chr8:11415955-11416841	GM12878	blood:	n/a	n/a
34	SPI1	chr8:11416145-11416485	GM12891	blood:	n/a	n/a
35	EP300	chr8:11416139-11416536	GM12878	blood:	n/a	n/a
36	MTA3	chr8:11416066-11416594	GM12878	blood:	n/a	n/a
37	FOXM1	chr8:11415998-11416529	GM12878	blood:	n/a	n/a
38	POU2F2	chr8:11416050-11416564	GM12891	blood:	n/a	n/a
39	BCL11A	chr8:11416159-11416609	GM12878	blood:	n/a	n/a
40	CTCF	chr8:11416352-11416484	GM12891	blood:	n/a	n/a
41	ZNF384	chr8:11416325-11416460	GM12878	blood:	n/a	n/a
42	POLR2A	chr8:11415962-11417401	GM12878	blood:	n/a	n/a
43	POLR2A	chr8:11414495-11417389	GM12878	blood:	n/a	n/a
44	STAT5A	chr8:11415838-11419365	GM12878	blood:	n/a	chr8:11417392-11417400 chr8:11417392-11417401 chr8:11416737-11416745 chr8:11416410-11416422 chr8:11417391-11417400
45	SMC3	chr8:11416116-11416512	GM12878	blood:	n/a	chr8:11416248-11416255
46	CTCF	chr8:11416423-11416474	GM13977	blood:	n/a	n/a
47	POLR2A	chr8:11415079-11419236	GM12892	blood:	n/a	n/a
48	IRF4	chr8:11416154-11416647	GM12878	blood:	n/a	n/a
49	TCF3	chr8:11416118-11416654	GM12878	blood:	n/a	n/a
50	EGR1	chr8:11416291-11416462	GM12878	blood:	n/a	chr8:11416376-11416383 chr8:11416373-11416387

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-148O21.2.1-1	chr8:11416421-11416495	ENSG00000255354.1

Variant related genes	Relation type
BLK	TF binding region
ENSG00000254774	TF binding region
ENSG00000255518	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10097005	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10097015	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10098782	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10109802	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1042689	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11250148	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11785335	0.97[ASN][1000 genomes]
rs11786148	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541802	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547947	0.80[AMR][1000 genomes]
rs12679960	0.82[AMR][1000 genomes]
rs13262953	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2279169	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2898289	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34379689	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35067819	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35401006	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4841557	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841558	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841561	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4841562	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7007439	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011778	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814414	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7834638	0.86[AMR][1000 genomes];0.80[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

No data

Chromatin state (count:33 , 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	chr8:11414200-11417000	Genic enhancers	GM12878-XiMat	blood
6	chr8:11414400-11417600	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:11414600-11417400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:11414600-11417600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:11414800-11417400	Enhancers	Thymus	Thymus
10	chr8:11415000-11416800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr8:11415000-11417000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr8:11415000-11417200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:11415000-11417400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:11415400-11417000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:11415600-11416600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr8:11415600-11416600	Bivalent Enhancer	Placenta	Placenta
17	chr8:11415600-11416800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:11415600-11416800	Enhancers	HSMM	muscle
19	chr8:11415600-11417000	Enhancers	Primary T cells from cord blood	blood
20	chr8:11415600-11417000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:11415600-11417200	Enhancers	Adipose Nuclei	Adipose
22	chr8:11415800-11416800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:11415800-11417000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr8:11416000-11416800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:11416200-11416600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:11416200-11416600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:11416200-11416600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:11416200-11416600	Enhancers	Dnd41	blood
29	chr8:11416200-11416800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr8:11416200-11417000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:11416200-11421600	Weak transcription	Spleen	Spleen
32	chr8:11416400-11416800	Weak transcription	Fetal Heart	heart
33	chr8:11416400-11416800	Bivalent Enhancer	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links