Variant report

Variant	rs67452591
Chromosome Location	chr7:17916196-17916197
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	chr7:17853768..17855990-chr7:17915652..17917897,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10249221	0.81[EUR][1000 genomes]
rs10264355	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10264445	0.84[EUR][1000 genomes]
rs10264447	0.83[EUR][1000 genomes]
rs1051603	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11768866	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12699918	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1357796	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1404414	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1404421	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1404422	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1404424	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1404425	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1524774	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1524775	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1524777	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1830006	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1852010	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1852011	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1965534	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1997019	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2030725	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2103144	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2140710	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2177652	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2254176	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2462512	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2691552	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2691553	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691555	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691557	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691559	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2691581	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691582	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691583	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691585	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691586	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2691589	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2691592	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691593	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691594	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2691595	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691596	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691597	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2691600	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2691601	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2691602	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2691604	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691605	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2691607	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2691609	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2691610	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691611	0.95[EUR][1000 genomes]
rs2691612	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2691613	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2691615	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2691616	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691617	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2691618	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2691620	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2691621	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691623	0.92[EUR][1000 genomes]
rs2691625	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2691627	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691628	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691629	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691630	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2714875	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2714876	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2714877	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2714878	0.86[ASN][1000 genomes]
rs2723494	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723496	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2723497	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723498	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723499	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723500	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723501	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723502	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2723503	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723504	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723505	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723506	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723507	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723508	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2723515	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723540	0.97[EUR][1000 genomes]
rs2723545	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723552	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723553	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2723554	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723555	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2723556	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723562	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723567	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2723569	0.98[EUR][1000 genomes]
rs2723570	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2723571	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2723572	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35819944	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4316058	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4532510	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4543433	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4721661	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4721665	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6953831	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6955984	0.86[EUR][1000 genomes]
rs6958131	0.84[EUR][1000 genomes]
rs6958211	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6973480	0.85[EUR][1000 genomes]
rs6978097	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6978103	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs949451	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9942602	0.83[EUR][1000 genomes]
rs998342	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869352	chr7:17237983-17932878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv534309	chr7:17254118-17932878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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 miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17839000-17932600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:17877800-17917400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:17878200-17918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:17885000-17928800	Weak transcription	HUVEC	blood vessel
5	chr7:17885200-17933800	Weak transcription	HMEC	breast
6	chr7:17888400-17934800	Weak transcription	Colonic Mucosa	Colon
7	chr7:17888600-17921600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:17891800-17922400	Weak transcription	NH-A	brain
9	chr7:17895000-17933600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:17896400-17918000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:17900400-17956600	Weak transcription	A549	lung
12	chr7:17901400-17946200	Weak transcription	NHLF	lung
13	chr7:17901600-17918400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:17901600-17939800	Weak transcription	Pancreas	Pancrea
15	chr7:17903400-17916200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:17903400-17925000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:17903400-17930000	Weak transcription	Gastric	stomach
18	chr7:17903400-17942400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:17903600-17925800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:17903600-17945400	Weak transcription	Aorta	Aorta
21	chr7:17903600-17953000	Weak transcription	Thymus	Thymus
22	chr7:17903800-17916200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:17903800-17922400	Weak transcription	Fetal Heart	heart
24	chr7:17903800-17949000	Weak transcription	NHEK	skin
25	chr7:17904600-17918000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:17904600-17920000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:17905000-17916400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:17905200-17928400	Weak transcription	NHDF-Ad	bronchial
29	chr7:17906400-17937800	Weak transcription	Brain Angular Gyrus	brain
30	chr7:17906400-17937800	Weak transcription	Brain Anterior Caudate	brain
31	chr7:17907200-17918000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:17907200-17925000	Weak transcription	Fetal Intestine Small	intestine
33	chr7:17907200-17926400	Weak transcription	Fetal Brain Female	brain
34	chr7:17907200-17926800	Weak transcription	Esophagus	oesophagus
35	chr7:17907200-17927000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:17907200-17931400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:17907200-17931600	Weak transcription	Fetal Brain Male	brain
38	chr7:17907200-17937800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:17907200-17939800	Weak transcription	Lung	lung
40	chr7:17907200-17941000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:17907200-17954800	Weak transcription	Spleen	Spleen
42	chr7:17907400-17918200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:17907400-17942400	Weak transcription	Small Intestine	intestine
44	chr7:17907600-17926800	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:17908200-17927400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:17909600-17916200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:17910400-17916200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr7:17910800-17917000	Strong transcription	Primary B cells from cord blood	blood
49	chr7:17911000-17916200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:17911400-17925200	Weak transcription	Fetal Stomach	stomach

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