Variant report

Variant	rs35823062
Chromosome Location	chr7:65965821-65965822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:65957205..65961212-chr7:65965422..65969556,4	K562	blood:
2	chr7:65964655..65966822-chr7:65973032..65975848,2	K562	blood:
3	chr7:65957063..65958828-chr7:65965766..65967927,2	MCF-7	breast:
4	chr7:65962598..65967020-chr7:65967128..65971576,5	K562	blood:

Variant related genes	Relation type
ENSG00000179342	Chromatin interaction
ENSG00000237310	Chromatin interaction
ENSG00000223473	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10247526	0.90[AFR][1000 genomes]
rs10807702	0.90[AFR][1000 genomes]
rs10950032	0.90[AFR][1000 genomes]
rs1267816	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1267817	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1267818	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1267819	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1267820	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12698542	1.00[AFR][1000 genomes]
rs13222887	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13224048	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13232193	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13235972	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13237037	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13237344	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13241548	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13242216	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1392104	0.82[AFR][1000 genomes]
rs1499613	0.82[AFR][1000 genomes]
rs1499614	0.82[AFR][1000 genomes]
rs1553174	0.82[AFR][1000 genomes]
rs1618893	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1638731	0.91[AFR][1000 genomes]
rs1638734	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1796215	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1796220	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1796228	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1882655	1.00[AFR][1000 genomes]
rs1922723	1.00[AFR][1000 genomes]
rs2420609	0.90[ASN][1000 genomes]
rs2533287	0.81[EUR][1000 genomes]
rs2533288	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2659903	1.00[AFR][1000 genomes]
rs2659911	1.00[AFR][1000 genomes]
rs2659913	1.00[AFR][1000 genomes]
rs2707823	1.00[AFR][1000 genomes]
rs2707826	0.91[AFR][1000 genomes]
rs2707828	0.90[AFR][1000 genomes]
rs2707830	1.00[AFR][1000 genomes]
rs2707831	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2707832	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2707833	0.87[AFR][1000 genomes]
rs2707838	1.00[AFR][1000 genomes]
rs2707840	1.00[AFR][1000 genomes]
rs2707844	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34073431	0.85[ASN][1000 genomes]
rs34192067	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34363376	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34700450	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34807232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35261784	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35825036	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36104268	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3936	1.00[AFR][1000 genomes]
rs4718333	0.90[AFR][1000 genomes]
rs58668827	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58669269	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60326618	1.00[AFR][1000 genomes]
rs6460312	1.00[AFR][1000 genomes]
rs66630579	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6958420	0.82[AFR][1000 genomes]
rs71563118	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73135918	0.81[AFR][1000 genomes]
rs73150635	0.93[ASN][1000 genomes]
rs778679	0.91[AFR][1000 genomes]
rs778683	0.91[AFR][1000 genomes]
rs778687	0.83[AFR][1000 genomes]
rs778691	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs778693	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs778701	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs778704	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs778729	0.82[AFR][1000 genomes]
rs778732	0.90[AFR][1000 genomes]
rs778733	0.82[AFR][1000 genomes]
rs7792391	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs35823062	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs35823062	VKORC1L1	cis	Whole Blood	GTEx
rs35823062	ASL	cis	multi-tissue	Pritchard
rs35823062	GUSB	cis	Whole Blood	GTEx
rs35823062	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs35823062	RP4-756H11.3	cis	lung	GTEx
rs35823062	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65959400-65966000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:65959400-65966800	Weak transcription	Pancreas	Pancrea
3	chr7:65959400-65967400	Weak transcription	Ovary	ovary
4	chr7:65959400-65968400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:65959400-65970200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:65959400-65970600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:65959400-65971000	Weak transcription	Right Atrium	heart
8	chr7:65959600-65966200	Weak transcription	Adipose Nuclei	Adipose
9	chr7:65959600-65966400	Weak transcription	Liver	Liver
10	chr7:65959600-65966600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:65959600-65967000	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:65959600-65968400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:65959600-65970800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:65959600-65970800	Weak transcription	Brain Angular Gyrus	brain
15	chr7:65959600-65970800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:65959800-65966200	Weak transcription	Primary B cells from cord blood	blood
17	chr7:65959800-65966600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:65959800-65966800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:65959800-65967200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:65959800-65967400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:65959800-65969200	Weak transcription	Fetal Intestine Small	intestine
22	chr7:65959800-65970800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:65959800-65970800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:65960200-65967600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:65962800-65969400	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:65965200-65967200	Enhancers	HepG2	liver
27	chr7:65965600-65966600	Weak transcription	K562	blood

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