Variant report

Variant	rs35667813
Chromosome Location	chr5:179243000-179243001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:179242742-179243106	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:179242523-179243262	K562	blood:	n/a	n/a
3	POLR2A	chr5:179242461-179243158	K562	blood:	n/a	n/a
4	POLR2A	chr5:179242532-179243257	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:179242918-179243057	A549	lung:	n/a	n/a
6	POLR2A	chr5:179242456-179243076	K562	blood:	n/a	n/a
7	POLR2A	chr5:179242718-179243213	HL-60	blood:	n/a	n/a
8	POLR2A	chr5:179242567-179243109	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr5:179242447-179243125	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr5:179242670-179243087	GM12892	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179242122..179245901-chr5:179334184..179337544,4	K562	blood:
2	chr5:179049277..179051716-chr5:179241526..179243213,2	K562	blood:
3	chr5:179157089..179164271-chr5:179242384..179250347,16	K562	blood:
4	chr5:179048735..179051281-chr5:179242342..179244613,2	MCF-7	breast:
5	chr5:179242622..179245445-chr5:180672767..180675405,2	MCF-7	breast:

No data

Variant related genes	Relation type
SQSTM1	TF binding region
ENSG00000233937	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000204628	Chromatin interaction
ENSG00000169045	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35647750	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36086003	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776944	0.88[ASN][1000 genomes]
rs58926938	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59939051	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60291142	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv823361	chr5:179213324-179251243	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
10	nsv883279	chr5:179214818-179248774	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
11	nsv883281	chr5:179220010-179250500	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
12	nsv883284	chr5:179220638-179246415	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	158 gene(s)	inside rSNPs	diseases
13	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
14	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179233400-179244400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:179234400-179243800	Weak transcription	Aorta	Aorta
3	chr5:179234600-179243600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:179234600-179243600	Weak transcription	Brain Substantia Nigra	brain
5	chr5:179234600-179243600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:179234600-179243800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:179234600-179244000	Weak transcription	NHDF-Ad	bronchial
8	chr5:179234600-179244200	Weak transcription	NHEK	skin
9	chr5:179234600-179245200	Weak transcription	HSMMtube	muscle
10	chr5:179234600-179245800	Weak transcription	Fetal Kidney	kidney
11	chr5:179234800-179243600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:179234800-179243600	Weak transcription	Brain Angular Gyrus	brain
13	chr5:179234800-179243600	Weak transcription	Osteobl	bone
14	chr5:179235000-179243600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:179235000-179243600	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:179235000-179243600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:179235200-179243400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:179235200-179243400	Weak transcription	Right Atrium	heart
19	chr5:179235200-179243600	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:179235400-179243200	Weak transcription	Pancreas	Pancrea
21	chr5:179235400-179243400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:179235400-179243400	Weak transcription	Colonic Mucosa	Colon
23	chr5:179235400-179243400	Weak transcription	GM12878-XiMat	blood
24	chr5:179235400-179243600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr5:179235400-179243600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:179235400-179243600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:179235400-179243600	Weak transcription	HUVEC	blood vessel
28	chr5:179235400-179243600	Weak transcription	NH-A	brain
29	chr5:179235400-179243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:179235400-179243800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr5:179235600-179243200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:179235600-179244400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:179235800-179243400	Weak transcription	Primary B cells from cord blood	blood
34	chr5:179237800-179243600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:179238000-179243200	Strong transcription	A549	lung
36	chr5:179238000-179243400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:179238200-179243000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:179238200-179243600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:179238400-179243000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:179238400-179243400	Strong transcription	Brain Germinal Matrix	brain
41	chr5:179238600-179243000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr5:179238600-179243000	Strong transcription	Fetal Brain Female	brain
43	chr5:179238600-179243200	Strong transcription	Fetal Stomach	stomach
44	chr5:179238600-179243400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr5:179238600-179243600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:179238600-179243600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:179238800-179243200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr5:179238800-179244400	Weak transcription	Hela-S3	cervix
49	chr5:179239000-179243400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:179239200-179243000	Strong transcription	NHLF	lung

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