Variant report

Variant	rs4700729
Chromosome Location	chr5:179665572-179665573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179661961..179665660-chr5:179666627..179671316,5	K562	blood:
2	chr5:179664459..179666080-chr5:179718721..179720642,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050748	Chromatin interaction
ENSG00000248367	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11249687	1.00[ASN][1000 genomes]
rs17628029	0.87[ASN][1000 genomes]
rs34876832	0.87[ASN][1000 genomes]
rs35977675	0.87[ASN][1000 genomes]
rs3812066	0.87[ASN][1000 genomes]
rs6896347	1.00[ASN][1000 genomes]
rs72811017	0.87[ASN][1000 genomes]
rs72811018	0.87[ASN][1000 genomes]
rs72811021	0.87[ASN][1000 genomes]
rs72811022	0.87[ASN][1000 genomes]
rs72811024	0.87[ASN][1000 genomes]
rs888923	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr5:179650200-179669000	Weak transcription	Fetal Brain Male	brain
2	chr5:179651600-179678000	Weak transcription	Fetal Heart	heart
3	chr5:179653600-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:179655000-179679600	Weak transcription	Stomach Mucosa	stomach
5	chr5:179655400-179712600	ZNF genes & repeats	Liver	Liver
6	chr5:179655800-179666400	ZNF genes & repeats	Aorta	Aorta
7	chr5:179655800-179675400	Strong transcription	Primary B cells from cord blood	blood
8	chr5:179656200-179675000	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:179656600-179703000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr5:179656800-179666000	Weak transcription	NH-A	brain
11	chr5:179657200-179668000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:179657400-179669200	Strong transcription	Fetal Stomach	stomach
13	chr5:179657400-179669200	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:179657400-179673600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:179657400-179674400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:179657600-179667800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:179657800-179674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:179657800-179697000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:179658000-179667600	Weak transcription	NHLF	lung
20	chr5:179658400-179665800	Strong transcription	Adipose Nuclei	Adipose
21	chr5:179658400-179668200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:179658400-179669600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:179658400-179670600	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:179658400-179670800	Strong transcription	Fetal Muscle Leg	muscle
25	chr5:179658400-179672600	Strong transcription	Thymus	Thymus
26	chr5:179658400-179679200	Strong transcription	Primary T cells from cord blood	blood
27	chr5:179658800-179680400	Weak transcription	Fetal Kidney	kidney
28	chr5:179659000-179667600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:179659000-179668600	Strong transcription	Ovary	ovary
30	chr5:179659000-179669800	Strong transcription	Placenta	Placenta
31	chr5:179659000-179670800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:179659000-179677600	Strong transcription	Dnd41	blood
33	chr5:179659200-179666000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr5:179659200-179668800	Weak transcription	K562	blood
35	chr5:179659200-179670000	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:179659200-179672600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:179659200-179674200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr5:179659400-179665800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:179659400-179666000	Weak transcription	NHDF-Ad	bronchial
40	chr5:179659400-179674800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:179659600-179674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:179659800-179667800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:179660000-179669600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr5:179660000-179670800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr5:179660200-179668200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:179660200-179669000	Strong transcription	Brain Anterior Caudate	brain
47	chr5:179660200-179669800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:179660200-179669800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr5:179660200-179670000	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr5:179660200-179671200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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