Variant report

Variant	rs2198618
Chromosome Location	chr5:42990146-42990147
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42988028..42998045-chr5:43036469..43045844,20	K562	blood:
2	chr5:42989723..42997135-chr5:43060250..43070296,19	K562	blood:
3	chr5:42913658..42915671-chr5:42988106..42990787,2	K562	blood:
4	chr5:42989588..43001279-chr5:43004636..43014428,32	K562	blood:
5	chr5:42989969..42995303-chr5:43120044..43124152,6	K562	blood:
6	chr5:42949769..42951285-chr5:42989512..42991530,2	K562	blood:
7	chr5:42909564..42912541-chr5:42988182..42990519,2	K562	blood:

Variant related genes	Relation type
ENSG00000272144	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177721	Chromatin interaction
ENSG00000271788	Chromatin interaction
ENSG00000215068	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10071264	0.96[AFR][1000 genomes]
rs12332667	0.82[AFR][1000 genomes]
rs2245687	1.00[AFR][1000 genomes]
rs2444855	1.00[AFR][1000 genomes]
rs2548338	1.00[AFR][1000 genomes]
rs2548381	0.83[YRI][hapmap]
rs2548387	0.81[AFR][1000 genomes]
rs2603618	1.00[AFR][1000 genomes]
rs2603619	1.00[AFR][1000 genomes]
rs2603621	1.00[AFR][1000 genomes]
rs2603643	1.00[AFR][1000 genomes]
rs2603654	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs28855148	0.89[AFR][1000 genomes]
rs309907	1.00[AFR][1000 genomes]
rs309949	0.81[AFR][1000 genomes]
rs316415	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9292861	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	esv1813779	chr5:42906572-42992040	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	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
9	nsv1020910	chr5:42929799-43000021	Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv537738	chr5:42929799-43000021	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	nsv881436	chr5:42967215-43008917	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active 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	50 gene(s)	inside rSNPs	diseases
15	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
16	nsv881640	chr5:42978644-43028221	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
17	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42982800-42990800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:42985400-42991400	Weak transcription	Placenta	Placenta
3	chr5:42986200-42990200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:42986800-42991200	Weak transcription	NHLF	lung
5	chr5:42987200-42990200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:42987200-42992400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:42988400-42996200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:42988800-42990400	ZNF genes & repeats	Dnd41	blood
9	chr5:42988800-42991600	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr5:42988800-42991600	Flanking Active TSS	HUVEC	blood vessel
11	chr5:42988800-42992000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr5:42989000-42990200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:42989000-42991800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr5:42989200-42990200	ZNF genes & repeats	K562	blood
15	chr5:42989200-42990600	Enhancers	Primary B cells from cord blood	blood
16	chr5:42989400-42990800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:42989400-42990800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
18	chr5:42989400-42991000	Enhancers	Adipose Nuclei	Adipose
19	chr5:42989400-42991200	Enhancers	Primary B cells from peripheral blood	blood
20	chr5:42989400-42991800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr5:42989400-42992000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:42989400-42992600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:42989600-42990800	Weak transcription	NH-A	brain
24	chr5:42989600-42991000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:42989800-42990200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:42989800-42990200	Enhancers	Osteobl	bone
27	chr5:42989800-42991200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:42989800-42991400	Weak transcription	A549	lung
29	chr5:42990000-42990200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr5:42990000-42990200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:42990000-42990200	Flanking Active TSS	GM12878-XiMat	blood
32	chr5:42990000-42990200	Flanking Active TSS	NHDF-Ad	bronchial
33	chr5:42990000-42990400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:42990000-42990400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:42990000-42990400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:42990000-42990400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr5:42990000-42990400	Enhancers	Colonic Mucosa	Colon
38	chr5:42990000-42990400	Flanking Active TSS	Hela-S3	cervix
39	chr5:42990000-42990600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
40	chr5:42990000-42990800	Enhancers	Primary hematopoietic stem cells	blood
41	chr5:42990000-42990800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr5:42990000-42991200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:42990000-42991200	Enhancers	Fetal Thymus	thymus
44	chr5:42990000-42991200	Flanking Active TSS	Thymus	Thymus
45	chr5:42990000-42991400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr5:42990000-42991400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr5:42990000-42991400	Enhancers	Spleen	Spleen
48	chr5:42990000-42991600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr5:42990000-42991800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:42990000-42991800	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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