Variant report

Variant	rs732904
Chromosome Location	chr5:179715869-179715870
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:7)
LncRNA
region (count:0)
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	EP300	chr5:179714770-179715937	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179714950..179716889-chr5:179783751..179785977,2	K562	blood:
2	chr5:179707652..179710961-chr5:179712990..179716242,3	K562	blood:
3	chr5:179707659..179712077-chr5:179712622..179717997,8	MCF-7	breast:
4	chr5:179715141..179717166-chr5:179896710..179898786,2	MCF-7	breast:
5	chr5:179715674..179717304-chr5:179721521..179723626,2	K562	blood:
6	chr5:179616220..179617824-chr5:179714865..179717440,2	MCF-7	breast:
7	chr5:179635600..179638547-chr5:179713821..179718130,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248367	TF binding region
ENSG00000146090	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12658400	0.85[EUR][1000 genomes]
rs731918	0.95[AMR][1000 genomes];0.99[EUR][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	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
7	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
8	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179692800-179718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:179694800-179717600	Weak transcription	HUVEC	blood vessel
3	chr5:179703000-179717400	Weak transcription	NHLF	lung
4	chr5:179704600-179716600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:179704600-179716600	Weak transcription	Psoas Muscle	Psoas
6	chr5:179704600-179716800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:179704600-179717200	Weak transcription	Small Intestine	intestine
8	chr5:179704600-179718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:179705200-179717200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:179705600-179717600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:179706600-179717200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:179706600-179717200	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:179706800-179718400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:179707200-179717200	Weak transcription	NHDF-Ad	bronchial
15	chr5:179707400-179717200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:179707600-179717600	Weak transcription	Fetal Kidney	kidney
17	chr5:179707800-179716400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr5:179708000-179717200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:179708200-179717200	Weak transcription	HSMM	muscle
20	chr5:179708400-179717400	Weak transcription	Osteobl	bone
21	chr5:179708400-179717800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:179710000-179716800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:179710000-179717400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:179710000-179717800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:179710200-179716600	Weak transcription	Colonic Mucosa	Colon
26	chr5:179710200-179717000	Weak transcription	Ovary	ovary
27	chr5:179710400-179716600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:179710400-179716600	Weak transcription	Esophagus	oesophagus
29	chr5:179710400-179717200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:179710400-179717200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:179710400-179717800	Weak transcription	Right Ventricle	heart
32	chr5:179710600-179716400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr5:179710600-179716600	Weak transcription	Fetal Lung	lung
34	chr5:179710600-179716600	Weak transcription	Left Ventricle	heart
35	chr5:179710600-179717200	Weak transcription	Adipose Nuclei	Adipose
36	chr5:179710600-179717200	Weak transcription	Brain Germinal Matrix	brain
37	chr5:179710600-179717200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:179710600-179717400	Weak transcription	Fetal Intestine Large	intestine
39	chr5:179710800-179716600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:179710800-179717200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:179710800-179717200	Weak transcription	Placenta	Placenta
42	chr5:179711400-179716400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:179711400-179716600	Weak transcription	Fetal Intestine Small	intestine
44	chr5:179711400-179717200	Weak transcription	Fetal Thymus	thymus
45	chr5:179711400-179717200	Weak transcription	Right Atrium	heart
46	chr5:179711600-179717000	Weak transcription	Spleen	Spleen
47	chr5:179711600-179717200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:179711600-179717600	Weak transcription	Aorta	Aorta
49	chr5:179711600-179718000	Weak transcription	Lung	lung
50	chr5:179712200-179716800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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