Variant report

Variant	rs11748530
Chromosome Location	chr5:118796298-118796299
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118791802..118794472-chr5:118795539..118798491,4	K562	blood:

Variant related genes	Relation type
ENSG00000133835	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10051019	1.00[CEU][hapmap]
rs10055743	1.00[JPT][hapmap]
rs10064524	1.00[JPT][hapmap]
rs10064783	1.00[JPT][hapmap]
rs10069480	1.00[JPT][hapmap]
rs10073818	1.00[CEU][hapmap]
rs10519575	1.00[JPT][hapmap]
rs10519576	1.00[JPT][hapmap]
rs11539471	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746780	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748477	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957255	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11959717	1.00[ASN][1000 genomes]
rs17145194	1.00[JPT][hapmap]
rs17145196	1.00[JPT][hapmap]
rs17145259	1.00[JPT][hapmap]
rs17145372	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs17145469	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145471	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs17145473	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145475	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145476	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145477	1.00[ASN][1000 genomes]
rs17385942	1.00[JPT][hapmap]
rs2287712	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2560718	1.00[JPT][hapmap]
rs2678067	0.85[EUR][1000 genomes]
rs28943596	1.00[ASN][1000 genomes]
rs34338122	1.00[ASN][1000 genomes]
rs3797344	1.00[JPT][hapmap]
rs3797345	1.00[JPT][hapmap]
rs3813305	1.00[JPT][hapmap]
rs3850200	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs3850201	1.00[CEU][hapmap];1.00[JPT][hapmap];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	0.83[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]
rs56263494	0.96[AFR][1000 genomes];1.00[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59034186	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59119324	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60497431	0.85[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	0.87[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]
rs6883394	1.00[JPT][hapmap]
rs72788177	0.84[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]
rs7701561	1.00[JPT][hapmap]
rs7701688	1.00[JPT][hapmap]
rs7704291	1.00[JPT][hapmap]
rs7704487	1.00[JPT][hapmap]
rs7722172	1.00[JPT][hapmap]
rs7723390	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7734378	1.00[JPT][hapmap]
rs7737934	1.00[JPT][hapmap]

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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118789000-118805000	Weak transcription	Esophagus	oesophagus
2	chr5:118789000-118805400	Weak transcription	Ovary	ovary
3	chr5:118789000-118805400	Weak transcription	Spleen	Spleen
4	chr5:118789000-118811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:118789200-118797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:118789200-118803800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr5:118789200-118803800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:118789200-118805000	Weak transcription	Thymus	Thymus
11	chr5:118789200-118805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:118789200-118805600	Weak transcription	Gastric	stomach
13	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:118789400-118800600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:118789400-118803800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:118789400-118805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:118789400-118831200	Weak transcription	NH-A	brain
18	chr5:118789400-118831600	Weak transcription	HSMMtube	muscle
19	chr5:118789600-118798400	Weak transcription	Adipose Nuclei	Adipose
20	chr5:118789600-118802800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:118789600-118804000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:118789600-118810600	Weak transcription	Osteobl	bone
23	chr5:118789600-118812000	Weak transcription	A549	lung
24	chr5:118789600-118813400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:118789600-118813600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr5:118789800-118798000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:118789800-118798800	Weak transcription	NHDF-Ad	bronchial
28	chr5:118789800-118799000	Weak transcription	HMEC	breast
29	chr5:118789800-118803000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:118789800-118804000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:118789800-118805000	Weak transcription	Fetal Stomach	stomach
32	chr5:118789800-118805200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:118789800-118811000	Weak transcription	Brain Angular Gyrus	brain
34	chr5:118789800-118813800	Weak transcription	Fetal Kidney	kidney
35	chr5:118789800-118814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:118790000-118797800	Weak transcription	Brain Substantia Nigra	brain
37	chr5:118790000-118804000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:118790000-118804200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:118790000-118812600	Weak transcription	Fetal Brain Male	brain
40	chr5:118790200-118813400	Weak transcription	Aorta	Aorta
41	chr5:118790400-118801000	Weak transcription	Lung	lung
42	chr5:118791800-118796600	Weak transcription	Pancreas	Pancrea
43	chr5:118791800-118800800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:118791800-118846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:118792400-118815000	Weak transcription	K562	blood
46	chr5:118792600-118796600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:118793200-118799400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr5:118793200-118801000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:118793400-118796400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:118793400-118796600	Weak transcription	Fetal Brain Female	brain

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