Variant report

Variant	rs7994277
Chromosome Location	chr13:93981755-93981756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93977629..93980676-chr13:93981025..93983333,3	K562	blood:
2	chr13:93962460..93964812-chr13:93979944..93982073,2	K562	blood:
3	chr13:93980175..93982832-chr13:93987646..93990345,3	K562	blood:
4	chr13:93878090..93881200-chr13:93981546..93984574,3	MCF-7	breast:
5	chr13:93953493..93955250-chr13:93979792..93982603,2	K562	blood:
6	chr13:93980175..93981907-chr13:93988845..93990835,2	K562	blood:

Variant related genes	Relation type
ENSG00000183098	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11618902	0.82[JPT][hapmap]
rs11618940	0.82[JPT][hapmap]
rs11619144	0.82[JPT][hapmap]
rs1359198	1.00[CEU][hapmap]
rs1359199	0.82[JPT][hapmap]
rs1445266	1.00[CEU][hapmap]
rs17234460	1.00[CEU][hapmap]
rs17300206	1.00[CEU][hapmap]
rs1980727	0.91[CEU][hapmap]
rs2025947	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2038727	1.00[CEU][hapmap]
rs2762082	0.91[CEU][hapmap]
rs3814277	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4771875	1.00[CEU][hapmap]
rs4773745	1.00[CEU][hapmap]
rs4773747	1.00[CEU][hapmap]
rs72639035	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7329539	1.00[CEU][hapmap]
rs7332108	0.82[JPT][hapmap]
rs7338402	0.91[CEU][hapmap]
rs7987449	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7994395	0.82[JPT][hapmap]
rs7997302	1.00[CEU][hapmap]
rs7999016	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8002366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs876808	1.00[CEU][hapmap]
rs9301870	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9301877	1.00[CEU][hapmap]
rs9516223	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9516225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9524014	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9524016	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9524018	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9524038	1.00[CEU][hapmap]
rs9524039	1.00[CEU][hapmap]
rs9524059	0.80[EUR][1000 genomes]
rs9524070	0.91[CEU][hapmap]
rs9556280	0.85[JPT][hapmap]
rs9556286	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9556289	1.00[CEU][hapmap]
rs9561312	0.86[JPT][hapmap]
rs9561315	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9561316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9561322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9561326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9561329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9561334	0.86[CEU][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes]
rs9561336	1.00[CEU][hapmap];0.82[GIH][hapmap]
rs9561340	1.00[CEU][hapmap]
rs9561346	0.89[CEU][hapmap]
rs973302	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2751156	chr13:93912999-93988638	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv900919	chr13:93957816-94030693	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1050202	chr13:93961478-93982388	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93971400-93982400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:93974200-93982400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:93977600-93982800	Enhancers	Fetal Intestine Large	intestine
4	chr13:93978000-93982600	Enhancers	Fetal Intestine Small	intestine
5	chr13:93978600-93981800	Weak transcription	Ovary	ovary
6	chr13:93980800-93982000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr13:93981000-93981800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:93981000-93982000	Enhancers	Colon Smooth Muscle	Colon
9	chr13:93981000-93982000	Enhancers	Fetal Lung	lung
10	chr13:93981000-93982000	Enhancers	HepG2	liver
11	chr13:93981200-93981800	Enhancers	Adipose Nuclei	Adipose
12	chr13:93981400-93982000	Flanking Active TSS	Liver	Liver
13	chr13:93981400-93987400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:93981600-93981800	Enhancers	Fetal Kidney	kidney

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