Variant report

Variant	rs73792112
Chromosome Location	chr4:2975614-2975615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2963294..2966874-chr4:2971342..2975947,5	MCF-7	breast:
2	chr4:2956703..2959553-chr4:2975091..2977278,2	MCF-7	breast:
3	chr4:2970964..2973292-chr4:2975610..2977622,2	MCF-7	breast:
4	chr4:2970358..2972253-chr4:2973675..2976968,3	K562	blood:
5	chr4:2973975..2975690-chr4:3027786..3029865,2	MCF-7	breast:
6	chr4:2970358..2971915-chr4:2973675..2976968,3	K562	blood:
7	chr4:2974314..2976832-chr4:2978872..2980388,2	K562	blood:
8	chr4:2973686..2975876-chr4:2978754..2981541,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000087269	Chromatin interaction
ENSG00000125388	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs16843459	1.00[AMR][1000 genomes]
rs16843490	1.00[AMR][1000 genomes]
rs16843682	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35304823	1.00[AMR][1000 genomes]
rs35983864	1.00[AMR][1000 genomes]
rs55676948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55909241	1.00[AFR][1000 genomes]
rs56204916	1.00[AFR][1000 genomes]
rs56315133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57551202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57960709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58112051	1.00[AFR][1000 genomes]
rs58279895	1.00[AMR][1000 genomes]
rs58479563	1.00[AFR][1000 genomes]
rs58555511	1.00[AFR][1000 genomes]
rs58936143	1.00[AFR][1000 genomes]
rs60480235	1.00[AFR][1000 genomes]
rs60514033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60745500	1.00[AMR][1000 genomes]
rs61377156	1.00[AFR][1000 genomes]
rs61652297	1.00[AMR][1000 genomes]
rs61747144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6830234	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6837197	1.00[AFR][1000 genomes]
rs6840149	1.00[AFR][1000 genomes]
rs6852880	1.00[AFR][1000 genomes]
rs73792109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792115	1.00[AMR][1000 genomes]
rs73792116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792119	0.89[AFR][1000 genomes]
rs73792122	1.00[AFR][1000 genomes]
rs73794816	1.00[AMR][1000 genomes]
rs73794824	1.00[AMR][1000 genomes]
rs73794825	1.00[AMR][1000 genomes]
rs73794827	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7657843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7676937	1.00[AMR][1000 genomes]
rs7699427	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1008436	chr4:2947160-3031195	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv536998	chr4:2947160-3031195	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv593438	chr4:2948456-3030097	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1008527	chr4:2957814-3019042	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1014013	chr4:2959876-3009507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv536999	chr4:2959876-3009507	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv878453	chr4:2963222-3021383	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1008781	chr4:2964080-3019042	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv1003528	chr4:2964261-3011568	Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv537000	chr4:2964261-3011568	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv1014675	chr4:2968222-3012723	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv1792095	chr4:2972168-3004238	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2966200-2977400	Weak transcription	Lung	lung
2	chr4:2966400-2978600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:2966400-2980200	Weak transcription	Left Ventricle	heart
4	chr4:2966400-2980200	Weak transcription	Ovary	ovary
5	chr4:2966400-2980400	Weak transcription	Spleen	Spleen
6	chr4:2966600-2977600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr4:2966600-2978600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:2966600-2978800	Weak transcription	NH-A	brain
9	chr4:2966600-2979000	Weak transcription	HSMM	muscle
10	chr4:2966600-2979600	Weak transcription	Primary T cells from cord blood	blood
11	chr4:2966600-2982000	Weak transcription	Brain Germinal Matrix	brain
12	chr4:2966600-2982200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:2966800-2977200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:2966800-2978800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:2966800-2978800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:2966800-2979000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:2966800-2979200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:2966800-2979400	Weak transcription	Brain Substantia Nigra	brain
19	chr4:2966800-2982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:2967000-2978800	Weak transcription	Osteobl	bone
21	chr4:2967000-2979200	Weak transcription	Brain Anterior Caudate	brain
22	chr4:2967200-2976200	Weak transcription	Dnd41	blood
23	chr4:2967200-2978600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:2967200-2978600	Weak transcription	HSMMtube	muscle
25	chr4:2967200-2978800	Weak transcription	NHDF-Ad	bronchial
26	chr4:2967200-2979000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:2967200-2979000	Weak transcription	NHLF	lung
28	chr4:2967200-2979200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:2967200-2980200	Weak transcription	Brain Angular Gyrus	brain
30	chr4:2967200-2983800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:2967400-2979400	Weak transcription	Esophagus	oesophagus
32	chr4:2967400-2982600	Weak transcription	Pancreas	Pancrea
33	chr4:2967400-2983000	Weak transcription	Fetal Lung	lung
34	chr4:2967400-2983600	Weak transcription	Gastric	stomach
35	chr4:2967600-2978600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:2967600-2978600	Weak transcription	Fetal Heart	heart
37	chr4:2969000-2978600	Weak transcription	Fetal Brain Male	brain
38	chr4:2973800-2975800	Strong transcription	Fetal Stomach	stomach
39	chr4:2975200-2977200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:2975400-2978800	Weak transcription	Fetal Brain Female	brain
41	chr4:2975400-2979000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:2975400-2980200	Weak transcription	Right Ventricle	heart
43	chr4:2975400-2980400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:2975600-2981800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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