Variant report

Variant	rs6950988
Chromosome Location	chr7:65976415-65976416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65957845..65960105-chr7:65973887..65976639,2	K562	blood:

Variant related genes	Relation type
ENSG00000237310	Chromatin interaction
ENSG00000223473	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1065265	0.88[EUR][1000 genomes]
rs10950035	0.87[EUR][1000 genomes]
rs10950036	0.87[EUR][1000 genomes]
rs10950040	0.91[EUR][1000 genomes]
rs11763224	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11766183	0.87[EUR][1000 genomes]
rs11767262	0.85[EUR][1000 genomes]
rs11770063	0.87[EUR][1000 genomes]
rs12667394	0.85[ASN][1000 genomes]
rs12670811	0.81[EUR][1000 genomes]
rs12672427	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1267814	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13311962	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1638724	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1638725	0.85[ASN][1000 genomes]
rs1638728	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1638732	0.83[ASN][1000 genomes]
rs1638735	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1796212	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1796217	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1796218	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1796219	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1796222	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1796226	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1796227	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1862085	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1909508	0.85[EUR][1000 genomes]
rs2052089	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2173571	0.87[EUR][1000 genomes]
rs2279757	0.88[EUR][1000 genomes]
rs2420456	0.85[EUR][1000 genomes]
rs2420612	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2533282	0.83[ASN][1000 genomes]
rs2533283	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2533284	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2707851	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28425729	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35459055	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3735147	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3936065	0.85[EUR][1000 genomes]
rs4718335	0.86[EUR][1000 genomes]
rs4718346	0.88[EUR][1000 genomes]
rs4718348	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4718364	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6460298	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6460311	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66594357	0.85[EUR][1000 genomes]
rs6945896	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6960848	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6961853	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6969224	0.84[EUR][1000 genomes]
rs6970498	0.87[EUR][1000 genomes]
rs6979636	0.87[EUR][1000 genomes]
rs73146609	0.87[EUR][1000 genomes]
rs73148639	0.85[EUR][1000 genomes]
rs73148689	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73150604	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73152714	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73377549	0.81[EUR][1000 genomes]
rs7783889	0.85[EUR][1000 genomes]
rs7785117	0.85[EUR][1000 genomes]
rs7801332	0.86[EUR][1000 genomes]
rs7810213	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7811204	0.86[EUR][1000 genomes]
rs801199	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs801210	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs801212	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs801213	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs964971	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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 target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv1027068	chr7:65901543-65991211	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv970515	chr7:65975431-65983898	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6950988	GS1-124K5.4	cis	Artery Aorta	GTEx
rs6950988	GS1-124K5.4	cis	Stomach	GTEx
rs6950988	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs6950988	RNU6-96P	cis	Thyroid	GTEx
rs6950988	GTF2IRD1P1	cis	Thyroid	GTEx
rs6950988	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs6950988	GS1-124K5.11	cis	Thyroid	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65971200-65979600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:65973800-65982600	Weak transcription	HepG2	liver
3	chr7:65975200-65989600	Weak transcription	Fetal Intestine Small	intestine

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