Variant report

Variant	rs4701138
Chromosome Location	chr5:179031595-179031596
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr5:179031106-179031606	A549	lung:	n/a	n/a
2	POLR2A	chr5:179030983-179031613	GM12892	blood:	n/a	n/a
3	POLR2A	chr5:179031257-179031742	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr5:179030918-179031661	GM12892	blood:	n/a	n/a
5	POLR2A	chr5:179031245-179031799	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr5:179031344-179031746	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr5:179031118-179031646	HepG2	liver:	n/a	n/a
8	POLR2A	chr5:179031237-179031659	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr5:179030994-179031797	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:179031125-179031603	K562	blood:	n/a	n/a
11	POLR2A	chr5:179031021-179031846	HepG2	liver:	n/a	n/a
12	POLR2A	chr5:179030907-179031644	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr5:179030906-179031705	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:179030988-179031709	U87	brain:	n/a	n/a
15	POLR2A	chr5:179030961-179031759	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:179030982-179031715	U87	brain:	n/a	n/a
17	POLR2A	chr5:179030899-179046584	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr5:179030989-179031815	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr5:179031044-179031849	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:179023883..179026184-chr5:179031149..179032775,2	MCF-7	breast:
2	chr5:178951884..178954426-chr5:179031332..179033126,2	MCF-7	breast:
3	chr5:178975690..178977861-chr5:179029775..179032308,2	K562	blood:

No data

Variant related genes	Relation type
RUFY1	TF binding region
ENSG00000244945	TF binding region
ENSG00000176783	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28501545	0.91[AFR][1000 genomes]
rs4515257	0.81[AFR][1000 genomes]
rs4700811	1.00[AFR][1000 genomes]
rs4700815	0.91[AFR][1000 genomes]
rs4700816	0.91[AFR][1000 genomes]
rs6422328	0.82[AFR][1000 genomes]
rs6422329	0.91[AFR][1000 genomes]
rs6422330	0.91[AFR][1000 genomes]
rs6886437	1.00[AFR][1000 genomes]
rs7710728	1.00[AFR][1000 genomes]
rs7734940	0.82[AFR][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
3	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:178996800-179034000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:178999800-179034800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:179000000-179034200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:179002200-179045600	Strong transcription	Fetal Intestine Large	intestine
8	chr5:179005000-179032400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr5:179007400-179033800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:179007400-179034800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:179007400-179035200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:179007400-179035200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:179007400-179037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:179007400-179040200	Strong transcription	Placenta	Placenta
15	chr5:179007400-179045000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:179007600-179034400	Strong transcription	Thymus	Thymus
17	chr5:179008200-179032800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr5:179010000-179034600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:179010800-179034000	Strong transcription	Fetal Thymus	thymus
20	chr5:179011000-179034200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:179011000-179045600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:179011200-179034000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr5:179011200-179039000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:179011200-179043800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:179012000-179031600	Strong transcription	Stomach Smooth Muscle	stomach
26	chr5:179012200-179034600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:179012200-179035000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:179012400-179034000	Strong transcription	Fetal Brain Female	brain
29	chr5:179012400-179036400	Strong transcription	Lung	lung
30	chr5:179012600-179032200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:179012600-179032200	Strong transcription	Liver	Liver
32	chr5:179012600-179037600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:179012600-179047000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr5:179012800-179031600	Strong transcription	Adipose Nuclei	Adipose
35	chr5:179012800-179032400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:179012800-179034600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:179012800-179039000	Strong transcription	Left Ventricle	heart
38	chr5:179012800-179040000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr5:179013000-179034200	Strong transcription	Primary T cells from cord blood	blood
40	chr5:179013600-179037800	Strong transcription	Fetal Stomach	stomach
41	chr5:179013800-179031600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:179013800-179035400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:179013800-179044800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:179014000-179042000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:179014000-179044400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:179014000-179046000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:179014200-179034200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:179016000-179041800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:179016200-179045000	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr5:179017000-179032000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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