Variant report

Variant	rs73442405
Chromosome Location	chr7:69527362-69527363
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10234205	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10235487	0.85[AMR][1000 genomes]
rs10235860	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10251306	0.89[ASN][1000 genomes]
rs10256186	0.90[ASN][1000 genomes]
rs10257549	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10268235	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10270616	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10273270	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10279392	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1035010	0.82[AMR][1000 genomes]
rs1035013	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10452738	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10499812	0.90[ASN][1000 genomes]
rs11761141	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11767997	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11978431	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12698816	0.80[AMR][1000 genomes]
rs12698822	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12698825	0.87[AMR][1000 genomes]
rs12698830	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12698841	0.80[EUR][1000 genomes]
rs12698842	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698849	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698866	0.90[ASN][1000 genomes]
rs12698877	0.84[ASN][1000 genomes]
rs13226538	0.87[AMR][1000 genomes]
rs13237811	0.81[AMR][1000 genomes]
rs13242485	0.80[EUR][1000 genomes]
rs1558413	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2159678	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2866075	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28770244	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34617709	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35222730	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35696945	0.84[AMR][1000 genomes]
rs6415223	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6460536	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6944725	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6949651	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6950485	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6951921	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6953170	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6957126	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6958981	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6961164	0.86[AMR][1000 genomes]
rs6962999	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6963904	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6966036	0.80[AMR][1000 genomes]
rs6969375	0.82[ASN][1000 genomes]
rs6974687	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6979355	0.80[AMR][1000 genomes]
rs7779308	0.80[EUR][1000 genomes]
rs7781035	0.85[ASN][1000 genomes]
rs7788024	0.85[ASN][1000 genomes]
rs7790934	0.85[ASN][1000 genomes]
rs7791101	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7792964	0.81[ASN][1000 genomes]
rs7794623	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7795152	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7797340	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7808540	0.85[ASN][1000 genomes]
rs7809303	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7809934	0.87[AMR][1000 genomes]
rs917717	0.80[EUR][1000 genomes]
rs9638268	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1034281	chr7:69403828-69548378	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538923	chr7:69403828-69548378	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1034182	chr7:69406172-69529294	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv538924	chr7:69406172-69529294	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv607429	chr7:69430748-69553093	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1020488	chr7:69465268-69671126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1022932	chr7:69496659-69564369	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv538925	chr7:69496659-69564369	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1034817	chr7:69507871-69578892	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv538926	chr7:69507871-69578892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1028975	chr7:69513266-69578892	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv916345	chr7:69520612-69784809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69517800-69527800	Weak transcription	Psoas Muscle	Psoas
2	chr7:69517800-69533600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:69518000-69527800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:69519600-69528600	Weak transcription	Fetal Stomach	stomach
5	chr7:69519800-69528600	Weak transcription	Fetal Lung	lung
6	chr7:69520000-69527800	Weak transcription	Fetal Brain Female	brain
7	chr7:69522000-69528600	Weak transcription	Fetal Intestine Small	intestine
8	chr7:69522400-69528600	Weak transcription	Fetal Heart	heart
9	chr7:69523200-69528400	Weak transcription	Brain Germinal Matrix	brain
10	chr7:69526000-69528000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:69526000-69528000	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:69526000-69528600	Weak transcription	Fetal Intestine Large	intestine
13	chr7:69526000-69528600	Weak transcription	Left Ventricle	heart
14	chr7:69526000-69529200	Weak transcription	Fetal Thymus	thymus
15	chr7:69526000-69537400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:69526200-69527400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:69526200-69527400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:69526200-69527400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:69526200-69527400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:69526200-69527600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:69526200-69527600	Weak transcription	Adipose Nuclei	Adipose
22	chr7:69526200-69528400	Weak transcription	Fetal Kidney	kidney
23	chr7:69526400-69527600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:69526400-69527600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:69526400-69527600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:69526400-69528400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:69526400-69536400	Weak transcription	Right Atrium	heart
28	chr7:69527200-69529800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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