Variant report

Variant	rs60832077
Chromosome Location	chr5:118790161-118790162
allele	C/T
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	POLR2A	chr5:118788062-118790211	HepG2	liver:	n/a	n/a
4	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: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10041464	1.00[ASN][1000 genomes]
rs10053031	1.00[ASN][1000 genomes]
rs10055743	1.00[ASN][1000 genomes]
rs10064524	1.00[ASN][1000 genomes]
rs10064668	1.00[ASN][1000 genomes]
rs10064783	1.00[ASN][1000 genomes]
rs10069480	1.00[ASN][1000 genomes]
rs11748477	0.88[AFR][1000 genomes]
rs11748530	0.87[AFR][1000 genomes]
rs17145259	1.00[ASN][1000 genomes]
rs17145372	1.00[ASN][1000 genomes]
rs17385942	1.00[ASN][1000 genomes]
rs3797344	1.00[ASN][1000 genomes]
rs3797345	1.00[ASN][1000 genomes]
rs3813305	1.00[ASN][1000 genomes]
rs4895192	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895374	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55796175	1.00[ASN][1000 genomes]
rs55933899	1.00[ASN][1000 genomes]
rs56194667	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56206018	1.00[ASN][1000 genomes]
rs56263494	0.88[AFR][1000 genomes]
rs56303741	1.00[ASN][1000 genomes]
rs57598751	1.00[ASN][1000 genomes]
rs57722161	1.00[ASN][1000 genomes]
rs58354605	0.87[AFR][1000 genomes]
rs58593403	0.81[AFR][1000 genomes]
rs59034186	1.00[ASN][1000 genomes]
rs59119324	1.00[ASN][1000 genomes]
rs60795377	1.00[ASN][1000 genomes]
rs61412235	1.00[ASN][1000 genomes]
rs61415411	1.00[ASN][1000 genomes]
rs61457439	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6595184	1.00[ASN][1000 genomes]
rs66534333	1.00[ASN][1000 genomes]
rs67967956	1.00[ASN][1000 genomes]
rs68024523	1.00[ASN][1000 genomes]
rs6860034	1.00[ASN][1000 genomes]
rs6862941	1.00[ASN][1000 genomes]
rs6869623	1.00[ASN][1000 genomes]
rs6891981	1.00[ASN][1000 genomes]
rs72786116	1.00[ASN][1000 genomes]
rs72786125	1.00[ASN][1000 genomes]
rs72786136	1.00[ASN][1000 genomes]
rs72786143	1.00[ASN][1000 genomes]
rs72786161	1.00[ASN][1000 genomes]
rs72788123	1.00[ASN][1000 genomes]
rs72788136	1.00[ASN][1000 genomes]
rs72788144	1.00[ASN][1000 genomes]
rs72788145	1.00[ASN][1000 genomes]
rs72788146	1.00[ASN][1000 genomes]
rs72788148	1.00[ASN][1000 genomes]
rs72788162	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788163	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788165	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788177	1.00[ASN][1000 genomes]
rs72788186	1.00[ASN][1000 genomes]
rs73237289	1.00[ASN][1000 genomes]
rs73790852	1.00[ASN][1000 genomes]
rs73790862	1.00[ASN][1000 genomes]
rs73794110	1.00[ASN][1000 genomes]
rs7701561	1.00[ASN][1000 genomes]
rs7701688	1.00[ASN][1000 genomes]
rs7722172	1.00[ASN][1000 genomes]
rs7723390	1.00[ASN][1000 genomes]
rs7723933	1.00[ASN][1000 genomes]
rs7725244	1.00[ASN][1000 genomes]
rs7729690	1.00[ASN][1000 genomes]
rs7734378	1.00[ASN][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	chr5:118787800-118790200	Active TSS	Aorta	Aorta
2	chr5:118788800-118791000	Flanking Active TSS	Liver	Liver
3	chr5:118789000-118791400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:118789000-118795600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:118789000-118805000	Weak transcription	Esophagus	oesophagus
6	chr5:118789000-118805400	Weak transcription	Ovary	ovary
7	chr5:118789000-118805400	Weak transcription	Spleen	Spleen
8	chr5:118789000-118811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:118789200-118790200	Weak transcription	Small Intestine	intestine
12	chr5:118789200-118790600	Enhancers	Fetal Thymus	thymus
13	chr5:118789200-118791600	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:118789200-118792000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:118789200-118792600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:118789200-118792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:118789200-118792800	Weak transcription	Right Ventricle	heart
18	chr5:118789200-118793400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:118789200-118794400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:118789200-118797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:118789200-118803800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr5:118789200-118803800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:118789200-118805000	Weak transcription	Thymus	Thymus
24	chr5:118789200-118805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:118789200-118805600	Weak transcription	Gastric	stomach
26	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:118789400-118790200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:118789400-118790200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:118789400-118790200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr5:118789400-118790200	Enhancers	Fetal Heart	heart
31	chr5:118789400-118790400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:118789400-118790400	Weak transcription	Stomach Mucosa	stomach
33	chr5:118789400-118790600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:118789400-118790600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:118789400-118790600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr5:118789400-118790600	Enhancers	Fetal Intestine Large	intestine
37	chr5:118789400-118790800	Enhancers	Dnd41	blood
38	chr5:118789400-118791400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:118789400-118791600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:118789400-118792200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr5:118789400-118792200	Weak transcription	Primary T cells from cord blood	blood
42	chr5:118789400-118792800	Weak transcription	Placenta	Placenta
43	chr5:118789400-118793000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:118789400-118793000	Weak transcription	HSMM	muscle
45	chr5:118789400-118794400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:118789400-118794600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr5:118789400-118794800	Weak transcription	HUVEC	blood vessel
48	chr5:118789400-118800600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:118789400-118803800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:118789400-118805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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