Variant report

Variant	rs56263494
Chromosome Location	chr5:118805352-118805353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118804681..118808687-chr5:118810812..118814012,4	K562	blood:

Variant related genes	Relation type
ENSG00000133835	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11539471	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746780	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748477	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748530	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957255	0.80[EUR][1000 genomes]
rs11959717	1.00[ASN][1000 genomes]
rs17145469	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145471	0.80[EUR][1000 genomes]
rs17145473	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145475	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145476	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145477	1.00[ASN][1000 genomes]
rs2287712	0.88[EUR][1000 genomes]
rs2678067	0.85[EUR][1000 genomes]
rs28943596	1.00[ASN][1000 genomes]
rs34338122	1.00[ASN][1000 genomes]
rs3850200	0.88[EUR][1000 genomes]
rs3850201	1.00[ASN][1000 genomes]
rs3991755	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895194	1.00[ASN][1000 genomes]
rs4895195	1.00[ASN][1000 genomes]
rs55796175	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55986996	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56050317	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411336	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57218593	0.80[EUR][1000 genomes]
rs58354605	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59034186	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59119324	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60497431	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60796985	1.00[ASN][1000 genomes]
rs60832077	0.88[AFR][1000 genomes]
rs61412235	0.85[AMR][1000 genomes]
rs61457439	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66462865	1.00[ASN][1000 genomes]
rs66534333	0.85[AMR][1000 genomes]
rs66831568	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67990368	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68024523	0.85[AMR][1000 genomes]
rs68126620	1.00[ASN][1000 genomes]
rs72788177	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72788186	0.84[AMR][1000 genomes]
rs72788194	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788197	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788199	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790203	1.00[ASN][1000 genomes]
rs72790207	1.00[ASN][1000 genomes]
rs72790214	1.00[ASN][1000 genomes]
rs72790217	1.00[ASN][1000 genomes]
rs72790221	1.00[ASN][1000 genomes]
rs72790222	1.00[ASN][1000 genomes]
rs7723390	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118789000-118805400	Weak transcription	Ovary	ovary
2	chr5:118789000-118805400	Weak transcription	Spleen	Spleen
3	chr5:118789000-118811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:118789200-118805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:118789200-118805600	Weak transcription	Gastric	stomach
8	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:118789400-118831200	Weak transcription	NH-A	brain
10	chr5:118789400-118831600	Weak transcription	HSMMtube	muscle
11	chr5:118789600-118810600	Weak transcription	Osteobl	bone
12	chr5:118789600-118812000	Weak transcription	A549	lung
13	chr5:118789600-118813400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:118789600-118813600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:118789800-118811000	Weak transcription	Brain Angular Gyrus	brain
16	chr5:118789800-118813800	Weak transcription	Fetal Kidney	kidney
17	chr5:118789800-118814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:118790000-118812600	Weak transcription	Fetal Brain Male	brain
19	chr5:118790200-118813400	Weak transcription	Aorta	Aorta
20	chr5:118791800-118846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:118792400-118815000	Weak transcription	K562	blood
22	chr5:118793400-118810000	Weak transcription	Placenta	Placenta
23	chr5:118793400-118812200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:118794800-118861200	Weak transcription	HSMM	muscle
25	chr5:118795200-118813400	Weak transcription	Small Intestine	intestine
26	chr5:118795400-118805600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:118795400-118806000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:118800800-118805800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:118801200-118805400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:118801800-118805600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:118802400-118805400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:118802800-118805800	ZNF genes & repeats	Fetal Lung	lung
33	chr5:118802800-118806000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr5:118803200-118805400	Weak transcription	Pancreas	Pancrea
35	chr5:118803200-118805600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:118803200-118805600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr5:118803200-118805800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:118803400-118805400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
39	chr5:118803400-118806400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
40	chr5:118803600-118805800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:118803800-118805400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
42	chr5:118803800-118806400	ZNF genes & repeats	GM12878-XiMat	blood
43	chr5:118804200-118805800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr5:118804200-118813600	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr5:118804400-118805400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr5:118804400-118805400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr5:118804400-118806200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:118804400-118808400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:118804400-118809400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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