Variant report

Variant	rs73809475
Chromosome Location	chr5:178999622-178999623
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:178999485-178999847	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178998693..179001088-chr5:179125400..179127599,2	K562	blood:
2	chr5:178999030..179001028-chr5:179028298..179031172,2	MCF-7	breast:
3	chr5:178984119..178986610-chr5:178999493..179002273,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC136604.1-5	chr5:178999157-178999742	NONHSAT105590

No data

Variant related genes	Relation type
RUFY1	TF binding region
ENSG00000127022	Chromatin interaction
ENSG00000244945	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs60636274	0.81[AFR][1000 genomes]
rs6879322	0.81[AFR][1000 genomes]
rs73809474	0.84[AFR][1000 genomes]
rs73809484	0.81[AFR][1000 genomes]
rs73810816	0.81[AFR][1000 genomes]
rs73810818	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
5	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
6	nsv1022509	chr5:178950829-179002751	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
9	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1028236	chr5:178962087-179019981	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr5:178986400-179000400	Strong transcription	Dnd41	blood
2	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:178987400-179000000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr5:178987400-179000200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:178987400-179013200	Strong transcription	Fetal Stomach	stomach
6	chr5:178987400-179019800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
8	chr5:178987800-178999800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:178987800-179000000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:178987800-179006600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:178987800-179006800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:178987800-179009600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr5:178987800-179012200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:178987800-179017000	Strong transcription	Osteobl	bone
15	chr5:178987800-179031000	Strong transcription	Fetal Muscle Leg	muscle
16	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:178988000-179000200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:178988000-179000400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr5:178988000-179000400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:178988000-179004600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:178988000-179006800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:178988000-179009600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:178988200-178999800	Strong transcription	Fetal Intestine Large	intestine
24	chr5:178988200-179000400	Strong transcription	HepG2	liver
25	chr5:178988200-179003400	Strong transcription	Placenta	Placenta
26	chr5:178988400-179000000	Strong transcription	Rectal Smooth Muscle	rectum
27	chr5:178988400-179002800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:178988400-179006200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr5:178988400-179006600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:178988400-179010200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:178988600-178999800	Strong transcription	Brain Anterior Caudate	brain
32	chr5:178988800-179003200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr5:178989000-179000200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:178989000-179000200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:178989000-179000600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:178989000-179001000	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:178989000-179003400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr5:178989000-179003600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr5:178989000-179006200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr5:178989000-179006600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:178989000-179010200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:178989200-179000000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:178989200-179006200	Strong transcription	Fetal Thymus	thymus
44	chr5:178989200-179006600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:178989400-178999800	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr5:178989400-179000600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:178989400-179003400	Strong transcription	Primary B cells from cord blood	blood
48	chr5:178989400-179006600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr5:178989600-179001200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:178989600-179006200	Strong transcription	Thymus	Thymus

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