Variant report

Variant	rs4841557
Chromosome Location	chr8:11415572-11415573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:11415560-11415710	GM12874	blood:	n/a	n/a
2	CTCF	chr8:11415520-11415670	GM12873	blood:	n/a	n/a
3	CTCF	chr8:11415540-11415690	NHEK	skin:	n/a	n/a
4	CTCF	chr8:11415523-11415667	MCF-7	breast:	n/a	n/a
5	CTCF	chr8:11415564-11415642	GM19240	blood:	n/a	n/a
6	CTCF	chr8:11415572-11415618	MCF-7	breast:	n/a	n/a
7	CTCF	chr8:11415466-11415731	NHEK	skin:	n/a	n/a
8	CTCF	chr8:11415519-11415667	MCF-7	breast:	n/a	n/a
9	POLR2A	chr8:11415545-11417663	GM12891	blood:	n/a	n/a
10	EBF1	chr8:11415165-11415775	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:11413519-11417463	GM18505	blood:	n/a	n/a
12	CTCF	chr8:11415560-11415710	GM12871	blood:	n/a	n/a
13	POLR2A	chr8:11415497-11415745	GM12878	blood:	n/a	n/a
14	CTCF	chr8:11415540-11415690	GM12871	blood:	n/a	n/a
15	CTCF	chr8:11415534-11415679	GM12891	blood:	n/a	n/a
16	CTCF	chr8:11415520-11415670	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr8:11415544-11415628	MCF-7	breast:	n/a	n/a
18	CTCF	chr8:11415509-11415686	MCF-7	breast:	n/a	n/a
19	CTCF	chr8:11415564-11415651	A549	lung:	n/a	n/a
20	POLR2A	chr8:11414495-11417389	GM12878	blood:	n/a	n/a
21	CTCF	chr8:11415531-11415652	Spleen_OC	spleen:	n/a	n/a
22	POLR2A	chr8:11415079-11419236	GM12892	blood:	n/a	n/a
23	CTCF	chr8:11415501-11415681	GM19239	blood:	n/a	n/a
24	CTCF	chr8:11415486-11415707	GM12878	blood:	n/a	n/a
25	CTCF	chr8:11415552-11415650	LNCaP	prostate:	n/a	n/a
26	POLR2A	chr8:11412687-11419386	GM12878	blood:	n/a	n/a
27	POLR2A	chr8:11414995-11417413	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:11415233-11415852	GM12892	blood:	n/a	n/a
29	POLR2A	chr8:11414547-11419114	GM12878	blood:	n/a	n/a
30	CTCF	chr8:11415500-11415650	A549	lung:	n/a	n/a
31	CTCF	chr8:11415545-11415684	GM12892	blood:	n/a	n/a
32	POLR2A	chr8:11408969-11419349	GM12878	blood:	n/a	n/a
33	MTA3	chr8:11415326-11417439	GM12878	blood:	n/a	n/a
34	POLR2A	chr8:11414142-11417452	GM12878	blood:	n/a	n/a
35	CTCF	chr8:11415529-11415683	GM19238	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:
2	chr8:11409226..11411204-chr8:11413317..11416179,2	K562	blood:

No data

Variant related genes	Relation type
BLK	TF binding region
ENSG00000254774	TF binding region
ENSG00000255518	TF binding region
ENSG00000136573	Chromatin interaction
ENSG00000269954	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10097005	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10097015	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10098782	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10109802	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1042689	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11250148	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11785335	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11786148	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541802	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679960	0.81[AMR][1000 genomes]
rs13262953	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2279169	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2898289	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34379689	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35067819	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35401006	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4841558	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841561	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4841562	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6988443	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007439	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011778	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814414	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834638	0.85[AMR][1000 genomes];0.82[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:30 , 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	chr8:11411400-11415600	Weak transcription	HSMM	muscle
6	chr8:11411800-11416200	Weak transcription	Fetal Heart	heart
7	chr8:11414200-11417000	Genic enhancers	GM12878-XiMat	blood
8	chr8:11414400-11416000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:11414400-11417600	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:11414600-11416200	Genic enhancers	Spleen	Spleen
11	chr8:11414600-11417400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:11414600-11417600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:11414800-11417400	Enhancers	Thymus	Thymus
14	chr8:11415000-11415600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr8:11415000-11416000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:11415000-11416000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr8:11415000-11416200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:11415000-11416200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
19	chr8:11415000-11416800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr8:11415000-11417000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr8:11415000-11417200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:11415000-11417400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:11415200-11415800	Enhancers	Dnd41	blood
24	chr8:11415200-11416000	Weak transcription	Gastric	stomach
25	chr8:11415200-11416000	Bivalent Enhancer	HUVEC	blood vessel
26	chr8:11415400-11415600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:11415400-11415600	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr8:11415400-11415600	Bivalent Enhancer	NHEK	skin
29	chr8:11415400-11416000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
30	chr8:11415400-11417000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links