Variant report

Variant	rs4700811
Chromosome Location	chr5:179033401-179033402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr5:179032107-179035783	A549	lung:	n/a	chr5:179035483-179035490
2	POLR2A	chr5:179032876-179033703	H1-hESC	embryonic stem cell:	n/a	n/a
3	PBX3	chr5:179032834-179035705	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr5:179033210-179035823	MCF-7	breast:	n/a	n/a
5	SIN3AK20	chr5:179033324-179033685	A549	lung:	n/a	n/a
6	POLR2A	chr5:179032245-179039419	GM12892	blood:	n/a	n/a
7	POLR2A	chr5:179032268-179046451	HepG2	liver:	n/a	n/a
8	BCL3	chr5:179032261-179035749	A549	lung:	n/a	chr5:179035483-179035490
9	HMGN3	chr5:179033360-179033524	K562	blood:	n/a	n/a
10	POLR2A	chr5:179033292-179033693	HepG2	liver:	n/a	n/a
11	POLR2A	chr5:179032506-179042560	K562	blood:	n/a	n/a
12	JUND	chr5:179032740-179035812	A549	lung:	n/a	n/a
13	POLR2A	chr5:179032550-179042176	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr5:179032895-179033734	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:179032925-179035665	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:179032463-179035765	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr5:179033086-179033674	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:179032318-179035908	U87	brain:	n/a	n/a
19	POLR2A	chr5:179032942-179037625	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr5:179032822-179035715	A549	lung:	n/a	n/a
21	POLR2A	chr5:179032199-179035786	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr5:179033397-179039296	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr5:179032846-179039303	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr5:179032115-179039357	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr5:179033118-179035822	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr5:179032271-179039347	GM12892	blood:	n/a	n/a
27	POLR2A	chr5:179032412-179035825	K562	blood:	n/a	n/a
28	POLR2A	chr5:179033191-179033716	K562	blood:	n/a	n/a
29	POLR2A	chr5:179033382-179033622	U87	brain:	n/a	n/a
30	POLR2A	chr5:179032390-179035771	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr5:179032232-179039282	SK-N-SH	brain:	n/a	n/a
32	TCF12	chr5:179032525-179035096	A549	lung:	n/a	chr5:179032806-179032813 chr5:179035039-179035049
33	POLR2A	chr5:179032950-179033716	ProgFib	skin:	n/a	n/a
34	POLR2A	chr5:179033140-179033535	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:179032426-179035785	HepG2	liver:	n/a	n/a
36	POLR2A	chr5:179033226-179033675	A549	lung:	n/a	n/a
37	POLR2A	chr5:179031954-179039309	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr5:179032289-179041224	A549	lung:	n/a	n/a
39	POLR2A	chr5:179032451-179035881	GM12891	blood:	n/a	n/a
40	POLR2A	chr5:179033248-179033677	HUVEC	blood vessel:	n/a	n/a
41	TEAD4	chr5:179033231-179033924	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr5:179032003-179035848	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr5:179033242-179033460	HCT-116	colon:	n/a	n/a
44	POLR2A	chr5:179033232-179039298	GM12891	blood:	n/a	n/a
45	SIN3AK20	chr5:179032767-179035706	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr5:179032954-179035648	GM19193	blood:	n/a	n/a
47	POLR2A	chr5:179032747-179033607	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr5:179032235-179035778	IMR90	lung:	n/a	n/a
49	PBX3	chr5:179033270-179035566	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr5:179032881-179038765	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179032616..179037685-chr5:179101606..179106447,5	K562	blood:

No data

Variant related genes	Relation type
RUFY1	TF binding region
ENSG00000244945	TF binding region
ENSG00000127022	Chromatin interaction
ENSG00000225051	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28501545	0.91[AFR][1000 genomes]
rs4515257	0.81[AFR][1000 genomes]
rs4524469	1.00[YRI][hapmap]
rs4700815	0.91[AFR][1000 genomes]
rs4700816	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs4701138	1.00[AFR][1000 genomes]
rs6422328	0.82[AFR][1000 genomes]
rs6422329	0.91[AFR][1000 genomes]
rs6422330	0.91[AFR][1000 genomes]
rs6886437	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7443003	1.00[YRI][hapmap]
rs7705990	1.00[YRI][hapmap]
rs7710728	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7734940	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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

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	chr5:179007400-179033800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:179007400-179034800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:179007400-179035200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:179007400-179035200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:179007400-179037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:179007400-179040200	Strong transcription	Placenta	Placenta
14	chr5:179007400-179045000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:179007600-179034400	Strong transcription	Thymus	Thymus
16	chr5:179010000-179034600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:179010800-179034000	Strong transcription	Fetal Thymus	thymus
18	chr5:179011000-179034200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:179011000-179045600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:179011200-179034000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr5:179011200-179039000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:179011200-179043800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:179012200-179034600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr5:179012200-179035000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:179012400-179034000	Strong transcription	Fetal Brain Female	brain
26	chr5:179012400-179036400	Strong transcription	Lung	lung
27	chr5:179012600-179037600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:179012600-179047000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr5:179012800-179034600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:179012800-179039000	Strong transcription	Left Ventricle	heart
31	chr5:179012800-179040000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr5:179013000-179034200	Strong transcription	Primary T cells from cord blood	blood
33	chr5:179013600-179037800	Strong transcription	Fetal Stomach	stomach
34	chr5:179013800-179035400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:179013800-179044800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:179014000-179042000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:179014000-179044400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:179014000-179046000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:179014200-179034200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:179016000-179041800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:179016200-179045000	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr5:179018400-179034400	Strong transcription	Dnd41	blood
43	chr5:179018400-179035400	Strong transcription	Brain Germinal Matrix	brain
44	chr5:179019200-179035000	Strong transcription	Ovary	ovary
45	chr5:179021000-179034800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:179022000-179034600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr5:179023200-179037800	Weak transcription	Fetal Heart	heart
48	chr5:179023400-179037800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:179025200-179045000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:179025400-179035000	Strong transcription	A549	lung

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