Variant report

Variant	rs11545868
Chromosome Location	chr5:177022428-177022429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:177021972-177024168	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:177022342-177024210	GM12891	blood:	n/a	n/a
3	POLR2A	chr5:177022049-177022530	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:177021869-177024192	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:177022409-177022586	MCF-7	breast:	n/a	n/a
6	POLR2A	chr5:177021394-177022617	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:177020473-177024169	GM12891	blood:	n/a	n/a
8	POLR2A	chr5:177020438-177025170	K562	blood:	n/a	n/a
9	SP1	chr5:177022427-177022801	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:177021832-177022506	GM12891	blood:	n/a	n/a
11	POLR2A	chr5:177021812-177024422	GM12892	blood:	n/a	n/a
12	POLR2A	chr5:177021906-177022446	K562	blood:	n/a	n/a
13	POLR2A	chr5:177021724-177024535	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:177022193-177022971	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:177021795-177024456	K562	blood:	n/a	n/a
16	POLR2A	chr5:177022032-177022958	GM12892	blood:	n/a	n/a
17	POLR2A	chr5:177022058-177022562	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:176980899..176984291-chr5:177021976..177024031,3	K562	blood:
2	chr5:176979031..176980967-chr5:177019678..177022578,2	MCF-7	breast:
3	chr5:176959784..176964247-chr5:177018558..177022874,5	MCF-7	breast:
4	chr5:176994913..176997833-chr5:177022408..177024826,2	K562	blood:
5	chr5:176928239..176929895-chr5:177020806..177023092,2	MCF-7	breast:
6	chr5:176978409..176982516-chr5:177021399..177024969,5	MCF-7	breast:
7	chr5:177014696..177016221-chr5:177020591..177022587,2	K562	blood:
8	chr5:176936816..176938708-chr5:177019651..177022498,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM193B-2	chr5:177022262-177022680	NONHSAT105441

No data

Variant related genes	Relation type
B4GALT7	TF binding region
ENSG00000272459	Chromatin interaction
ENSG00000146067	Chromatin interaction
ENSG00000146094	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10045871	0.86[EUR][1000 genomes]
rs10078930	0.92[EUR][1000 genomes]
rs10479521	0.92[EUR][1000 genomes]
rs11960689	0.87[EUR][1000 genomes]
rs12651744	0.95[EUR][1000 genomes]
rs12656594	0.86[EUR][1000 genomes]
rs28534743	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28738071	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs335487	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34705130	0.85[EUR][1000 genomes]
rs4976703	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876792	0.90[EUR][1000 genomes]
rs747861	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7710333	0.86[EUR][1000 genomes]
rs7717102	0.86[EUR][1000 genomes]
rs7720519	0.95[EUR][1000 genomes]
rs7729422	0.95[EUR][1000 genomes]
rs7731640	0.87[EUR][1000 genomes]
rs9329062	0.88[EUR][1000 genomes]
rs968406	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1022630	chr5:176975746-177028082	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv537966	chr5:176975746-177028082	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv883181	chr5:176978496-177034786	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv883183	chr5:177019379-177030351	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177020000-177023200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:177020400-177022600	Genic enhancers	Gastric	stomach
3	chr5:177020400-177022600	Genic enhancers	Spleen	Spleen
4	chr5:177020400-177023600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:177020400-177024000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:177020400-177024000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:177020400-177024000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:177020400-177024000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:177020400-177024000	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr5:177020400-177024200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr5:177020400-177024200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:177020400-177024200	Strong transcription	Fetal Intestine Large	intestine
13	chr5:177020400-177024200	Strong transcription	Thymus	Thymus
14	chr5:177020600-177023600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:177020600-177023800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:177020600-177023800	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr5:177020600-177023800	Strong transcription	Brain Angular Gyrus	brain
18	chr5:177020600-177024000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:177020600-177024000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:177020600-177024000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:177020600-177024000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:177020600-177024000	Strong transcription	Primary T cells from cord blood	blood
23	chr5:177020600-177024000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr5:177020600-177024000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:177020600-177024000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:177020600-177024000	Strong transcription	Fetal Lung	lung
27	chr5:177020600-177024000	Strong transcription	Ovary	ovary
28	chr5:177020600-177024200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:177020600-177024200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:177020600-177024200	Strong transcription	Fetal Intestine Small	intestine
31	chr5:177020800-177022800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:177020800-177023600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr5:177020800-177023800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:177020800-177023800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr5:177020800-177023800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:177020800-177023800	Strong transcription	Brain Anterior Caudate	brain
37	chr5:177020800-177023800	Strong transcription	HSMMtube	muscle
38	chr5:177020800-177024000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:177020800-177024000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:177020800-177024000	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr5:177020800-177024000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:177020800-177024000	Strong transcription	Lung	lung
43	chr5:177020800-177024000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr5:177020800-177024000	Strong transcription	Right Ventricle	heart
45	chr5:177020800-177024000	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:177020800-177024000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr5:177020800-177024000	Strong transcription	A549	lung
48	chr5:177020800-177024000	Strong transcription	HMEC	breast
49	chr5:177020800-177024000	Strong transcription	HUVEC	blood vessel
50	chr5:177020800-177024000	Strong transcription	NHEK	skin

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