Variant report

Variant	rs7007439
Chromosome Location	chr8:11415794-11415795
allele	A/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	POLR2A	chr8:11415755-11417303	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:11415618-11417359	GM12891	blood:	n/a	n/a
3	POLR2A	chr8:11415545-11417663	GM12891	blood:	n/a	n/a
4	POLR2A	chr8:11415636-11417486	GM12892	blood:	n/a	n/a
5	POLR2A	chr8:11413519-11417463	GM18505	blood:	n/a	n/a
6	POLR2A	chr8:11414495-11417389	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:11415079-11419236	GM12892	blood:	n/a	n/a
8	POLR2A	chr8:11412687-11419386	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:11414995-11417413	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:11415233-11415852	GM12892	blood:	n/a	n/a
11	POLR2A	chr8:11414547-11419114	GM12878	blood:	n/a	n/a
12	CHD2	chr8:11415731-11415863	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:11408969-11419349	GM12878	blood:	n/a	n/a
14	MTA3	chr8:11415326-11417439	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:11414142-11417452	GM12878	blood:	n/a	n/a

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:

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

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:29)

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]
rs11774549	0.82[CHB][hapmap]
rs11785335	0.82[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	1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes]
rs13262953	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2127128	0.87[CHD][hapmap]
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]
rs4841557	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841558	1.00[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]
rs4841566	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6988443	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011778	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814414	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834638	0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7840433	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs899366	0.87[CHD][hapmap];1.00[JPT][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7007439	CLDN23	cis	multi-tissue	Pritchard
rs7007439	MFHAS1	cis	cerebellum	SCAN
rs7007439	C8orf13	cis	multi-tissue	Pritchard
rs7007439	FAM167A	cis	lymphoblastoid	seeQTL

Chromatin state (count:37 , 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	chr8:11411800-11416200	Weak transcription	Fetal Heart	heart
6	chr8:11414200-11417000	Genic enhancers	GM12878-XiMat	blood
7	chr8:11414400-11416000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:11414400-11417600	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:11414600-11416200	Genic enhancers	Spleen	Spleen
10	chr8:11414600-11417400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:11414600-11417600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:11414800-11417400	Enhancers	Thymus	Thymus
13	chr8:11415000-11416000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:11415000-11416000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr8:11415000-11416200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:11415000-11416200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
17	chr8:11415000-11416800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:11415000-11417000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr8:11415000-11417200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:11415000-11417400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:11415200-11415800	Enhancers	Dnd41	blood
22	chr8:11415200-11416000	Weak transcription	Gastric	stomach
23	chr8:11415200-11416000	Bivalent Enhancer	HUVEC	blood vessel
24	chr8:11415400-11416000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
25	chr8:11415400-11417000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:11415600-11415800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:11415600-11415800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr8:11415600-11415800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr8:11415600-11416200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
30	chr8:11415600-11416400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
31	chr8:11415600-11416600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr8:11415600-11416600	Bivalent Enhancer	Placenta	Placenta
33	chr8:11415600-11416800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr8:11415600-11416800	Enhancers	HSMM	muscle
35	chr8:11415600-11417000	Enhancers	Primary T cells from cord blood	blood
36	chr8:11415600-11417000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:11415600-11417200	Enhancers	Adipose Nuclei	Adipose

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