Variant report

Variant	rs13360025
Chromosome Location	chr5:118789916-118789917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr5:118789867-118790198	HepG2	liver:	n/a	n/a
2	EP300	chr5:118789865-118790273	HepG2	liver:	n/a	n/a
3	HNF4A	chr5:118789911-118790129	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:118788062-118790211	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:118787604-118790194	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118788483..118791355-chr5:118802793..118805177,3	K562	blood:

Variant related genes	Relation type
HSD17B4	TF binding region
ENSG00000239084	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10040115	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10041122	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10041785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10045177	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10051448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10054525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10057263	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10057643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10061692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10062410	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10064454	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10068320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10072256	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10077255	1.00[EUR][1000 genomes]
rs10440770	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10477586	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10478423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13356711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13357873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13357948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13361084	1.00[EUR][1000 genomes]
rs28478666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28504028	1.00[AFR][1000 genomes]
rs28558429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28588064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28590215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28673725	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28762138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28792671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55810648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56303659	1.00[EUR][1000 genomes]
rs56372726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58184170	1.00[EUR][1000 genomes]
rs73790891	1.00[EUR][1000 genomes]
rs9885031	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9885037	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118787800-118790000	Active TSS	Fetal Brain Male	brain
2	chr5:118787800-118790200	Active TSS	Aorta	Aorta
3	chr5:118788000-118790000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:118788000-118790000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:118788800-118791000	Flanking Active TSS	Liver	Liver
6	chr5:118789000-118790000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:118789000-118790000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:118789000-118790000	Weak transcription	Lung	lung
9	chr5:118789000-118791400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:118789000-118795600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:118789000-118805000	Weak transcription	Esophagus	oesophagus
12	chr5:118789000-118805400	Weak transcription	Ovary	ovary
13	chr5:118789000-118805400	Weak transcription	Spleen	Spleen
14	chr5:118789000-118811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:118789200-118790000	Weak transcription	Left Ventricle	heart
18	chr5:118789200-118790000	Weak transcription	Pancreas	Pancrea
19	chr5:118789200-118790000	Flanking Active TSS	HepG2	liver
20	chr5:118789200-118790200	Weak transcription	Small Intestine	intestine
21	chr5:118789200-118790600	Enhancers	Fetal Thymus	thymus
22	chr5:118789200-118791600	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:118789200-118792000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:118789200-118792600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:118789200-118792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:118789200-118792800	Weak transcription	Right Ventricle	heart
27	chr5:118789200-118793400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:118789200-118794400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:118789200-118797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:118789200-118803800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:118789200-118803800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:118789200-118805000	Weak transcription	Thymus	Thymus
33	chr5:118789200-118805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:118789200-118805600	Weak transcription	Gastric	stomach
35	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:118789400-118790000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:118789400-118790000	Enhancers	Brain Substantia Nigra	brain
38	chr5:118789400-118790000	Weak transcription	Psoas Muscle	Psoas
39	chr5:118789400-118790000	Enhancers	Rectal Smooth Muscle	rectum
40	chr5:118789400-118790000	Enhancers	Hela-S3	cervix
41	chr5:118789400-118790200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:118789400-118790200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:118789400-118790200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr5:118789400-118790200	Enhancers	Fetal Heart	heart
45	chr5:118789400-118790400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:118789400-118790400	Weak transcription	Stomach Mucosa	stomach
47	chr5:118789400-118790600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:118789400-118790600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr5:118789400-118790600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr5:118789400-118790600	Enhancers	Fetal Intestine Large	intestine

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