Variant report

Variant	rs73754536
Chromosome Location	chr5:43030548-43030549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr5:43030537-43031592	PBDE	blood:	n/a	chr5:43030872-43030888 chr5:43030876-43030885

No.	Distal block	Cell Line	Cell type
1	chr5:43029361..43030941-chr5:43036238..43037788,2	K562	blood:
2	chr5:43019686..43022766-chr5:43029707..43032686,3	K562	blood:
3	chr5:43007524..43009823-chr5:43029367..43031081,2	K562	blood:
4	chr5:43016725..43019477-chr5:43028965..43031224,3	MCF-7	breast:
5	chr5:43029265..43030861-chr5:43036238..43038466,2	K562	blood:
6	chr5:43022748..43024743-chr5:43030135..43033089,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272382	TF binding region
ENSG00000177738	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000271788	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1389304	1.00[AFR][1000 genomes]
rs55672386	1.00[AFR][1000 genomes]
rs55824534	0.88[AFR][1000 genomes]
rs56017053	1.00[AFR][1000 genomes]
rs57576393	0.81[AFR][1000 genomes]
rs58237022	1.00[AFR][1000 genomes]
rs58551906	1.00[AFR][1000 genomes]
rs58723178	0.81[AFR][1000 genomes]
rs58730711	0.88[AFR][1000 genomes]
rs61242377	1.00[AFR][1000 genomes]
rs73751007	1.00[AFR][1000 genomes]
rs73751037	0.88[AFR][1000 genomes]
rs73751040	0.81[AFR][1000 genomes]
rs73751043	0.81[AFR][1000 genomes]
rs73751302	0.88[AFR][1000 genomes]
rs73754505	0.88[AFR][1000 genomes]
rs73754508	0.88[AFR][1000 genomes]
rs73754517	0.89[AFR][1000 genomes]
rs73754520	1.00[AFR][1000 genomes]
rs73754527	1.00[AFR][1000 genomes]
rs73754531	1.00[AFR][1000 genomes]
rs73754535	1.00[AFR][1000 genomes]
rs73754539	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
11	nsv880447	chr5:42967215-43030798	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
12	nsv880415	chr5:42978644-43030798	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43020200-43034800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:43020800-43033600	Weak transcription	NH-A	brain
3	chr5:43020800-43033800	Weak transcription	NHLF	lung
4	chr5:43020800-43034000	Weak transcription	Pancreas	Pancrea
5	chr5:43020800-43034200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:43020800-43034400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:43020800-43037400	Weak transcription	HSMM	muscle
8	chr5:43020800-43038400	Weak transcription	Spleen	Spleen
9	chr5:43021000-43032600	Weak transcription	HUVEC	blood vessel
10	chr5:43021200-43038600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:43021400-43034400	Weak transcription	Primary B cells from cord blood	blood
12	chr5:43021600-43034200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:43021600-43034400	Weak transcription	NHDF-Ad	bronchial
14	chr5:43021600-43034600	Weak transcription	Hela-S3	cervix
15	chr5:43021800-43034400	Weak transcription	Dnd41	blood
16	chr5:43021800-43034600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:43022000-43036400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:43027800-43033600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:43028400-43034400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:43028800-43030800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr5:43029400-43034200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:43029400-43034200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:43029400-43034400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:43029400-43034400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:43029400-43034600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:43029400-43037600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:43029600-43034000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:43029600-43034400	Weak transcription	Primary T cells from cord blood	blood
29	chr5:43029800-43031000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr5:43029800-43032000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:43029800-43034600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:43029800-43034600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr5:43030000-43031400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:43030000-43034800	Weak transcription	GM12878-XiMat	blood
35	chr5:43030200-43031400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:43030400-43030600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:43030400-43031000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:43030400-43033800	Weak transcription	Placenta	Placenta

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