Variant report

Variant	rs67758970
Chromosome Location	chr4:87816695-87816696
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	RAD21	chr4:87816694-87817373	HCT-116	colon:	n/a	chr4:87817075-87817094 chr4:87817078-87817091
2	SMC3	chr4:87816586-87818062	SK-N-SH	brain:	n/a	chr4:87817079-87817093
3	RAD21	chr4:87816654-87818204	SK-N-SH	brain:	n/a	chr4:87817075-87817094 chr4:87817078-87817091
4	CTCF	chr4:87816640-87816790	GM12801	blood:	n/a	n/a
5	CTCF	chr4:87816663-87817680	SK-N-SH	brain:	n/a	chr4:87817084-87817091 chr4:87817072-87817093 chr4:87817077-87817095 chr4:87817078-87817094
6	CTCF	chr4:87816650-87817450	HCT-116	colon:	n/a	chr4:87817084-87817091 chr4:87817072-87817093 chr4:87817077-87817095 chr4:87817078-87817094
7	RAD21	chr4:87816677-87817407	HCT-116	colon:	n/a	chr4:87817075-87817094 chr4:87817078-87817091
8	CTCF	chr4:87816542-87817489	A549	lung:	n/a	chr4:87817084-87817091 chr4:87817072-87817093 chr4:87817077-87817095 chr4:87817078-87817094

No.	Distal block	Cell Line	Cell type
1	chr4:87419852..87420552-chr4:87816647..87817499,2	MCF-7	breast:
2	chr4:87419183..87419967-chr4:87816677..87817515,2	MCF-7	breast:
3	chr4:87485932..87486733-chr4:87816558..87817197,3	MCF-7	breast:
4	chr4:87813108..87815411-chr4:87815518..87817081,3	K562	blood:
5	chr4:87417282..87418372-chr4:87816611..87817555,4	K562	blood:
6	chr4:87372558..87374446-chr4:87816098..87818041,2	MCF-7	breast:
7	chr4:87574188..87575068-chr4:87816619..87817331,3	K562	blood:
8	chr4:87443253..87444235-chr4:87816583..87817731,4	MCF-7	breast:
9	chr4:87416805..87418843-chr4:87815414..87817028,2	MCF-7	breast:
10	chr4:86068807..86069313-chr4:87816662..87817570,2	K562	blood:
11	chr4:87416961..87417707-chr4:87816598..87817123,2	MCF-7	breast:

Variant related genes	Relation type
C4orf36	TF binding region
ENSG00000163633	Chromatin interaction
ENSG00000109339	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10011798	1.00[EUR][1000 genomes]
rs10015121	1.00[EUR][1000 genomes]
rs10021020	0.98[EUR][1000 genomes]
rs10034336	0.99[EUR][1000 genomes]
rs11097123	0.89[EUR][1000 genomes]
rs11097125	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503045	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507165	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12641570	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120981	0.98[EUR][1000 genomes]
rs1374935	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1868244	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012345	0.97[ASN][1000 genomes]
rs2121871	0.98[EUR][1000 genomes]
rs2594274	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2594283	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705629	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28446826	0.87[EUR][1000 genomes]
rs2904148	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2904150	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35428486	0.97[EUR][1000 genomes]
rs4235082	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55889191	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56062410	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6823051	0.99[EUR][1000 genomes]
rs6843070	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6846822	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87814000-87817400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:87814000-87825000	Weak transcription	Right Atrium	heart
3	chr4:87814000-87825200	Weak transcription	Left Ventricle	heart
4	chr4:87814200-87817200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:87814200-87824800	Weak transcription	Adipose Nuclei	Adipose
6	chr4:87814200-87825000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:87814200-87825200	Weak transcription	Right Ventricle	heart
8	chr4:87814200-87825200	Weak transcription	A549	lung
9	chr4:87814200-87829400	Weak transcription	K562	blood
10	chr4:87814400-87825000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:87814400-87825200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:87814400-87825200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:87814600-87821600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:87814600-87821600	Weak transcription	Placenta	Placenta
15	chr4:87814600-87825200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:87814600-87830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:87814800-87818000	Enhancers	NHEK	skin
18	chr4:87816000-87818800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:87816200-87821600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:87816200-87821600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:87816200-87825000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:87816600-87818600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links