Variant report

Variant	rs73304492
Chromosome Location	chr7:16386034-16386035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10950610	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10950613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10950614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10950616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11508469	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12155021	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12531973	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533801	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12666346	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12666868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17169417	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17169426	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1921839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3919476	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4001474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4463323	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4568517	0.86[ASN][1000 genomes]
rs4615457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55750250	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55966090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56327615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56815850	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57026722	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57381059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58327496	0.83[ASN][1000 genomes]
rs58553783	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58877550	0.84[EUR][1000 genomes]
rs61227640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61391935	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72506102	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73306417	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73684129	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73684130	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9648214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
2	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1022388	chr7:16251992-16431864	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2757215	chr7:16346139-16458474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv887744	chr7:16346213-16401190	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv887745	chr7:16346213-16405309	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv887746	chr7:16348091-16401190	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv887747	chr7:16348091-16405309	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv8061	chr7:16348519-16405295	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3475733	chr7:16348798-16402304	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3475734	chr7:16348821-16402329	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3475732	chr7:16348828-16402264	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3475735	chr7:16348828-16402264	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv442031	chr7:16348843-16402114	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv818488	chr7:16350130-16401190	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv887748	chr7:16350130-16401190	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv887749	chr7:16350130-16401190	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv887750	chr7:16350130-16405309	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv887751	chr7:16350130-16405309	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv523384	chr7:16350859-16401190	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv34942	chr7:16351845-16399822	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv34248	chr7:16351845-16399860	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv35018	chr7:16351845-16399860	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv34392	chr7:16351845-16412625	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv887752	chr7:16352616-16401190	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv887753	chr7:16352616-16405309	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv514407	chr7:16357609-16399725	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv508447	chr7:16360614-16446053	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	nsv464393	chr7:16362378-16397352	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv606324	chr7:16362378-16397352	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv1031019	chr7:16377519-16458474	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
34	nsv464396	chr7:16381366-16401190	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv606325	chr7:16381366-16401190	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16384800-16388000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:16385000-16387200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:16385000-16388400	Enhancers	HSMM	muscle
4	chr7:16385200-16386400	Enhancers	Osteobl	bone
5	chr7:16385200-16387600	Enhancers	HMEC	breast
6	chr7:16385200-16388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:16385400-16386200	Enhancers	NH-A	brain
8	chr7:16385400-16388200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:16385600-16386400	Weak transcription	Stomach Mucosa	stomach
10	chr7:16385600-16386800	Enhancers	NHLF	lung
11	chr7:16385600-16387400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:16385600-16387600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:16385600-16387800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:16385600-16387800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:16385600-16387800	Enhancers	HSMMtube	muscle
16	chr7:16385600-16388000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:16385600-16388000	Enhancers	NHDF-Ad	bronchial
18	chr7:16385600-16388200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:16385800-16386200	Enhancers	Fetal Heart	heart
20	chr7:16385800-16386800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr7:16385800-16386800	Enhancers	NHEK	skin
22	chr7:16385800-16387600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr7:16385800-16387800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:16385800-16388800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:16386000-16386400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:16386000-16386400	Enhancers	K562	blood
27	chr7:16386000-16386600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:16386000-16386600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:16386000-16387200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:16386000-16387600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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