Variant report

Variant	rs72819004
Chromosome Location	chr5:177657301-177657302
allele	A/G
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	POLR2A	chr5:177656872-177658787	K562	blood:	n/a	n/a
2	ZNF263	chr5:177656888-177659341	HEK293-T-REx	kidney:	n/a	n/a
3	POLR2A	chr5:177656552-177660493	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:177656975-177657459	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr5:177656699-177657767	SK-N-MC	brain:	n/a	n/a
6	USF2	chr5:177656957-177657364	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr5:177656719-177660560	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177019232..177020994-chr5:177656791..177659399,2	K562	blood:

Variant related genes	Relation type
PHYKPL	TF binding region
ENSG00000184840	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1134369	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11743721	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11750481	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17080447	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17639362	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17759	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55653122	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58591737	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72817294	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7705559	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7705704	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
5	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers 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	105 gene(s)	inside rSNPs	diseases
7	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1018031	chr5:177655010-177746378	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv537969	chr5:177655010-177746378	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv883195	chr5:177655194-177690539	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv883196	chr5:177655194-177690978	Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv883197	chr5:177655194-177707204	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177639400-177657600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:177646600-177657400	Strong transcription	Thymus	Thymus
3	chr5:177646800-177658000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:177648000-177658000	Strong transcription	Fetal Thymus	thymus
5	chr5:177648200-177657400	Strong transcription	Fetal Brain Female	brain
6	chr5:177648200-177657800	Genic enhancers	Fetal Intestine Large	intestine
7	chr5:177648600-177658000	Strong transcription	Spleen	Spleen
8	chr5:177649000-177657400	Strong transcription	Primary T cells from cord blood	blood
9	chr5:177649600-177657800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:177651400-177658000	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr5:177651600-177657800	Strong transcription	Fetal Muscle Leg	muscle
12	chr5:177651600-177658000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:177651600-177658000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:177651800-177658000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:177652000-177658000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:177652000-177658000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:177652000-177658200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:177652200-177657600	Genic enhancers	Liver	Liver
19	chr5:177652800-177658200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:177653600-177657600	Genic enhancers	Duodenum Mucosa	Duodenum
21	chr5:177653600-177658200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr5:177653600-177658200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:177653600-177658200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:177654000-177657600	Strong transcription	Primary hematopoietic stem cells	blood
25	chr5:177654000-177657600	Strong transcription	Brain Anterior Caudate	brain
26	chr5:177654000-177657600	Strong transcription	A549	lung
27	chr5:177654000-177658000	Genic enhancers	Colonic Mucosa	Colon
28	chr5:177654200-177657400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:177654200-177657400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:177654200-177657600	Strong transcription	Fetal Lung	lung
31	chr5:177654200-177657800	Genic enhancers	Rectal Mucosa Donor 31	rectum
32	chr5:177654200-177658000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:177654200-177658000	Strong transcription	Esophagus	oesophagus
34	chr5:177654200-177658000	Strong transcription	Rectal Smooth Muscle	rectum
35	chr5:177654400-177657400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
36	chr5:177654400-177657600	Strong transcription	Aorta	Aorta
37	chr5:177654400-177658000	Strong transcription	Fetal Kidney	kidney
38	chr5:177654400-177658400	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr5:177654600-177657400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:177654600-177657600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:177654800-177657400	Strong transcription	Fetal Stomach	stomach
42	chr5:177654800-177657600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr5:177654800-177658000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:177654800-177658000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:177654800-177658000	Genic enhancers	Pancreas	Pancrea
46	chr5:177655000-177657600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr5:177655000-177658000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:177655000-177658000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:177655000-177658000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:177655000-177658000	Genic enhancers	Primary T helper cells fromperipheralblood	blood

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