Variant report

Variant	rs73792338
Chromosome Location	chr4:676471-676472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:646528..649301-chr4:675021..676814,2	MCF-7	breast:
2	chr4:595977..599927-chr4:674651..678190,4	MCF-7	breast:
3	chr4:675556..677159-chr4:698083..699991,3	K562	blood:
4	chr4:675173..676793-chr4:777348..779688,2	MCF-7	breast:
5	chr4:674880..677107-chr4:756612..759495,2	MCF-7	breast:
6	chr4:675536..678279-chr4:719522..721602,2	K562	blood:
7	chr4:675712..677367-chr4:684331..686436,2	MCF-7	breast:
8	chr4:676118..678375-chr4:722491..724316,2	K562	blood:
9	chr4:675798..677554-chr4:822582..825253,2	K562	blood:

Variant related genes	Relation type
ENSG00000133256	Chromatin interaction
ENSG00000233799	Chromatin interaction
ENSG00000185619	Chromatin interaction
ENSG00000242686	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57854073	1.00[AMR][1000 genomes]
rs60098880	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792333	1.00[AMR][1000 genomes]
rs73792336	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792337	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792339	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792340	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
9	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	104 gene(s)	inside rSNPs	diseases
14	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv878248	chr4:645300-685993	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv878249	chr4:649639-691026	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
18	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
19	nsv10413	chr4:667204-684301	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv593208	chr4:668000-682233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv878250	chr4:668567-683842	Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv878251	chr4:669857-683842	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv878252	chr4:669857-685993	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	esv3357523	chr4:674177-676725	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	esv3365960	chr4:674402-676900	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
26	esv3326174	chr4:675602-678100	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:673600-677400	Enhancers	Spleen	Spleen
2	chr4:674200-678200	Enhancers	Esophagus	oesophagus
3	chr4:675000-677600	Weak transcription	Fetal Lung	lung
4	chr4:675000-680800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:675200-676800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:675200-676800	Weak transcription	Fetal Heart	heart
7	chr4:675200-677000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:675200-677000	Weak transcription	Brain Substantia Nigra	brain
9	chr4:675200-677200	Weak transcription	Liver	Liver
10	chr4:675200-677200	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:675200-677200	Weak transcription	Left Ventricle	heart
12	chr4:675200-677400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:675200-677400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:675200-677400	Weak transcription	Brain Anterior Caudate	brain
15	chr4:675200-677400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:675200-677400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:675200-677400	Weak transcription	HSMM	muscle
18	chr4:675200-677600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:675200-677600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:675200-677600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:675200-677600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:675200-677600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:675200-677600	Weak transcription	HSMMtube	muscle
24	chr4:675200-678000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr4:675200-678000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:675200-678400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:675200-678800	Enhancers	Placenta	Placenta
28	chr4:675200-680400	Weak transcription	NHDF-Ad	bronchial
29	chr4:675200-680600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:675200-680600	Weak transcription	NH-A	brain
31	chr4:675200-680800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:675200-680800	Weak transcription	NHLF	lung
33	chr4:675200-682200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:675200-682400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:675200-682600	Weak transcription	GM12878-XiMat	blood
36	chr4:675400-676800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:675400-677000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:675400-677000	Genic enhancers	Fetal Muscle Leg	muscle
39	chr4:675400-677200	Weak transcription	Psoas Muscle	Psoas
40	chr4:675400-677400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:675400-677400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:675400-677400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:675400-677400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:675400-677600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:675400-677800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:675400-678000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:675400-680600	Weak transcription	Osteobl	bone
48	chr4:675400-680800	Weak transcription	Primary B cells from cord blood	blood
49	chr4:675400-681600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:675400-681800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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