Variant report

Variant	rs73754527
Chromosome Location	chr5:42995561-42995562
allele	C/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:0)
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	chr5:42913329..42916103-chr5:42993492..42995662,2	K562	blood:
2	chr5:42990996..42996897-chr5:43036694..43045949,13	K562	blood:
3	chr5:42988028..42998045-chr5:43036469..43045844,20	K562	blood:
4	chr5:42989723..42997135-chr5:43060250..43070296,19	K562	blood:
5	chr5:42994823..42995633-chr5:43040288..43041131,4	K562	blood:
6	chr5:42990973..42999044-chr5:43062393..43068169,17	K562	blood:
7	chr5:42989588..43001279-chr5:43004636..43014428,32	K562	blood:
8	chr5:42994652..42996871-chr5:43105565..43107104,2	K562	blood:

No data

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

Extended variants
information (count: 39 )
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]
rs73754531	1.00[AFR][1000 genomes]
rs73754535	1.00[AFR][1000 genomes]
rs73754536	1.00[AFR][1000 genomes]
rs73754539	1.00[AFR][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	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	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42988400-42996200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:42990200-42996000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:42990800-42996000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
4	chr5:42991000-42995600	Active TSS	Right Ventricle	heart
5	chr5:42991200-42995800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:42991200-42995800	Active TSS	Thymus	Thymus
7	chr5:42991400-42995600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:42991400-42995800	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr5:42991400-42995800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
10	chr5:42991600-42995600	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr5:42991600-42995600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr5:42991600-42995600	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr5:42991600-42995800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:42991600-42995800	Active TSS	HSMMtube	muscle
15	chr5:42991800-42995600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:42991800-42995600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:42991800-42996000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
18	chr5:42992000-42995600	Active TSS	Aorta	Aorta
19	chr5:42992000-42995600	ZNF genes & repeats	NHEK	skin
20	chr5:42992000-42995800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr5:42992000-42995800	Active TSS	HSMM	muscle
22	chr5:42992000-42996200	Active TSS	A549	lung
23	chr5:42992200-42995600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:42992200-42995600	Bivalent/Poised TSS	Small Intestine	intestine
25	chr5:42992600-42995800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:42992600-42995800	Bivalent/Poised TSS	Colonic Mucosa	Colon
27	chr5:42992600-42995800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
28	chr5:42992800-42995600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
29	chr5:42993000-42995600	Bivalent/Poised TSS	Psoas Muscle	Psoas
30	chr5:42993200-42995600	Bivalent/Poised TSS	Liver	Liver
31	chr5:42993200-42996200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr5:42993400-42995600	Weak transcription	Spleen	Spleen
33	chr5:42993400-42995800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
34	chr5:42993800-42995600	Active TSS	Primary T cells fromperipheralblood	blood
35	chr5:42993800-42995600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
36	chr5:42993800-42995600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
37	chr5:42993800-42995600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
38	chr5:42993800-42995800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr5:42993800-42995800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:42994200-42995600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:42994200-42995600	Active TSS	Muscle Satellite Cultured Cells	--
42	chr5:42994200-42995600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
43	chr5:42994200-42995800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:42994400-42995800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:42994600-42995600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
46	chr5:42994600-42995600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr5:42994600-42995800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:42994600-42995800	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr5:42994600-42995800	ZNF genes & repeats	Right Atrium	heart
50	chr5:42994800-42995600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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