Variant report

Variant	rs34953355
Chromosome Location	chr4:630192-630193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:615876..617771-chr4:628086..630978,3	K562	blood:
2	chr4:629516..632051-chr4:640070..643057,2	MCF-7	breast:
3	chr4:629506..631102-chr4:666468..668539,2	K562	blood:
4	chr4:626527..629135-chr4:629423..631548,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215375	Chromatin interaction
ENSG00000169020	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10012461	0.85[EUR][1000 genomes]
rs10015198	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10018393	1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs10024575	0.85[EUR][1000 genomes]
rs11726338	1.00[MEX][hapmap]
rs13101691	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13103955	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13104878	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes]
rs13107526	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13110755	0.87[EUR][1000 genomes]
rs13111179	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13114299	0.87[EUR][1000 genomes]
rs13116523	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13117283	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13118033	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13127213	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13133935	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13136626	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13139052	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13139089	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13143415	0.91[EUR][1000 genomes]
rs13147797	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13150119	1.00[EUR][1000 genomes]
rs28648408	1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs28654405	1.00[EUR][1000 genomes]
rs28682363	0.85[EUR][1000 genomes]
rs28687729	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28754934	1.00[EUR][1000 genomes]
rs34053163	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34075612	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34094325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34096984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34165278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34293668	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34363025	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34366493	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34391278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34402770	1.00[EUR][1000 genomes]
rs34421911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34477049	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34568772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34585712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34587191	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs34698095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34992186	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35006826	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35137658	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35158410	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35207129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35219160	1.00[EUR][1000 genomes]
rs35270524	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35455427	1.00[EUR][1000 genomes]
rs35535457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35564967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35621318	0.87[EUR][1000 genomes]
rs35621580	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35649145	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35694609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35732782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35843044	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35853545	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35869797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35894204	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35896648	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35925646	0.87[EUR][1000 genomes]
rs35935310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35972513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36060793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36117387	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61760239	0.87[EUR][1000 genomes]
rs71602477	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602479	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602480	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602481	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602482	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602484	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71602492	1.00[EUR][1000 genomes]
rs71602500	0.87[EUR][1000 genomes]
rs7657809	0.85[EUR][1000 genomes]
rs7672426	1.00[EUR][1000 genomes]
rs7674091	0.85[EUR][1000 genomes]
rs7674895	0.85[EUR][1000 genomes]
rs7685281	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9997898	1.00[GIH][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
9	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription 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	104 gene(s)	inside rSNPs	diseases
14	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	esv3400548	chr4:627502-630300	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv1818085	chr4:629099-638615	Bivalent Enhancer Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv1826696	chr4:629099-638615	Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv1834200	chr4:629099-638615	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv593207	chr4:629437-645300	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34953355	HEYL	trans	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:624600-630400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:626400-642000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:626800-630400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:627000-633000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:629400-630400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:630000-631600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links