Variant report

Variant	rs2548352
Chromosome Location	chr5:42991301-42991302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:42990996..42996897-chr5:43036694..43045949,13	K562	blood:
2	chr5:42988028..42998045-chr5:43036469..43045844,20	K562	blood:
3	chr5:42989723..42997135-chr5:43060250..43070296,19	K562	blood:
4	chr5:42990973..42999044-chr5:43062393..43068169,17	K562	blood:
5	chr5:42989588..43001279-chr5:43004636..43014428,32	K562	blood:
6	chr5:6632723..6633278-chr5:42991235..42991736,2	Hela-S3	cervix:
7	chr5:42989969..42995303-chr5:43120044..43124152,6	K562	blood:
8	chr5:42949769..42951285-chr5:42989512..42991530,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf39-2	chr5:42991255-42992726	XLOC_004803
2	lnc-C5orf39-2	chr5:42990941-42991348	XLOC_004803

No data

Variant related genes	Relation type
ENSG00000037474	Chromatin interaction
ENSG00000215068	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177721	Chromatin interaction
ENSG00000271788	Chromatin interaction
ENSG00000272144	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10052513	0.93[AFR][1000 genomes]
rs10064867	1.00[AFR][1000 genomes]
rs10071114	0.93[AFR][1000 genomes]
rs11959316	1.00[AFR][1000 genomes]
rs13356567	0.81[AFR][1000 genomes]
rs2548385	1.00[AFR][1000 genomes]
rs28887779	1.00[AFR][1000 genomes]
rs2924820	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42985400-42991400	Weak transcription	Placenta	Placenta
2	chr5:42987200-42992400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:42988400-42996200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:42988800-42991600	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr5:42988800-42991600	Flanking Active TSS	HUVEC	blood vessel
6	chr5:42988800-42992000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr5:42989000-42991800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr5:42989400-42991800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr5:42989400-42992000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:42989400-42992600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:42989800-42991400	Weak transcription	A549	lung
12	chr5:42990000-42991400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:42990000-42991400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr5:42990000-42991400	Enhancers	Spleen	Spleen
15	chr5:42990000-42991600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr5:42990000-42991800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:42990000-42991800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr5:42990000-42991800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:42990200-42992600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr5:42990200-42996000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:42990600-42991400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:42990600-42991600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:42990600-42991600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr5:42990600-42991800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
25	chr5:42990600-42992000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr5:42990600-42992000	Flanking Active TSS	GM12878-XiMat	blood
27	chr5:42990600-42992600	Flanking Active TSS	K562	blood
28	chr5:42990800-42991400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
29	chr5:42990800-42991600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr5:42990800-42991800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:42990800-42991800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr5:42990800-42992000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:42990800-42992000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
34	chr5:42990800-42992000	Flanking Active TSS	Dnd41	blood
35	chr5:42990800-42992000	Flanking Active TSS	Osteobl	bone
36	chr5:42990800-42992200	Bivalent/Poised TSS	Colonic Mucosa	Colon
37	chr5:42990800-42992200	Active TSS	Small Intestine	intestine
38	chr5:42990800-42992400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr5:42990800-42992400	Flanking Active TSS	Hela-S3	cervix
40	chr5:42990800-42992600	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr5:42990800-42993400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
42	chr5:42990800-42993800	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr5:42990800-42996000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
44	chr5:42991000-42991400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:42991000-42991400	Weak transcription	Lung	lung
46	chr5:42991000-42991400	Enhancers	HepG2	liver
47	chr5:42991000-42991600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
48	chr5:42991000-42991600	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr5:42991000-42991600	Weak transcription	NHDF-Ad	bronchial
50	chr5:42991000-42992000	Active TSS	NH-A	brain

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