Variant report

Variant	rs56736556
Chromosome Location	chr4:129929975-129929976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10518540	0.83[ASN][1000 genomes]
rs11934130	1.00[ASN][1000 genomes]
rs11935616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11936845	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11940367	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11944075	1.00[ASN][1000 genomes]
rs11944782	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11945797	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11945943	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1446997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1446998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17013912	0.83[ASN][1000 genomes]
rs17013921	0.83[ASN][1000 genomes]
rs17013948	0.83[ASN][1000 genomes]
rs17013950	0.83[ASN][1000 genomes]
rs17013952	0.83[ASN][1000 genomes]
rs17013957	0.83[ASN][1000 genomes]
rs17013959	0.83[ASN][1000 genomes]
rs17013962	0.83[ASN][1000 genomes]
rs1807772	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2167243	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34610325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3765056	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4323125	1.00[ASN][1000 genomes]
rs55722445	1.00[ASN][1000 genomes]
rs55726726	0.83[ASN][1000 genomes]
rs55764329	1.00[ASN][1000 genomes]
rs56133600	0.83[ASN][1000 genomes]
rs56873035	1.00[ASN][1000 genomes]
rs57211895	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57821290	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58053026	1.00[ASN][1000 genomes]
rs58916388	1.00[ASN][1000 genomes]
rs58952520	1.00[ASN][1000 genomes]
rs59003275	1.00[ASN][1000 genomes]
rs59089843	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59443911	1.00[ASN][1000 genomes]
rs60404916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60617520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60927243	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61177405	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61264206	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61467458	0.83[ASN][1000 genomes]
rs61491906	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72922045	1.00[ASN][1000 genomes]
rs72922049	1.00[ASN][1000 genomes]
rs72922051	1.00[ASN][1000 genomes]
rs72922052	1.00[ASN][1000 genomes]
rs72922056	1.00[ASN][1000 genomes]
rs72922058	1.00[ASN][1000 genomes]
rs72922062	1.00[ASN][1000 genomes]
rs72922082	1.00[ASN][1000 genomes]
rs72922083	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72922091	1.00[ASN][1000 genomes]
rs72922096	1.00[ASN][1000 genomes]
rs72922102	1.00[ASN][1000 genomes]
rs72924107	1.00[ASN][1000 genomes]
rs72924109	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72924111	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72924119	1.00[ASN][1000 genomes]
rs72924120	1.00[ASN][1000 genomes]
rs72924125	1.00[ASN][1000 genomes]
rs72924128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72924140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72924141	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72924143	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72924145	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72924147	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72924151	1.00[ASN][1000 genomes]
rs72924153	1.00[ASN][1000 genomes]
rs72924155	1.00[ASN][1000 genomes]
rs72924164	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72924166	1.00[ASN][1000 genomes]
rs72924176	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72924178	1.00[ASN][1000 genomes]
rs72924187	1.00[ASN][1000 genomes]
rs72924189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72924196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72926023	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72926033	1.00[AFR][1000 genomes]
rs72926055	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72926058	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72926059	1.00[ASN][1000 genomes]
rs72926066	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72926067	0.92[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs72926070	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72926073	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72926076	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72926084	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72927912	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72927913	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72927914	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72927916	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72927920	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72927925	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72927931	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73847303	1.00[ASN][1000 genomes]
rs73847310	1.00[ASN][1000 genomes]
rs73847338	1.00[ASN][1000 genomes]
rs73847349	1.00[ASN][1000 genomes]
rs73850029	0.83[ASN][1000 genomes]
rs73850031	0.83[ASN][1000 genomes]
rs73850033	0.83[ASN][1000 genomes]
rs73850038	0.83[ASN][1000 genomes]
rs73850040	0.83[ASN][1000 genomes]
rs73850042	0.83[ASN][1000 genomes]
rs73850043	0.83[ASN][1000 genomes]
rs73850062	1.00[ASN][1000 genomes]
rs73850063	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1026938	chr4:129770961-129936205	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv870175	chr4:129771718-129937945	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1026772	chr4:129773881-129936205	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1018994	chr4:129775612-129933968	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129868200-129935600	Weak transcription	HSMM	muscle
2	chr4:129906200-129935800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:129911400-129936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:129917400-129935800	Weak transcription	Pancreas	Pancrea
5	chr4:129917400-129936000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:129917400-129936200	Weak transcription	Left Ventricle	heart
7	chr4:129917400-129942400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:129920600-129936000	Weak transcription	Fetal Thymus	thymus

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