Variant report

Variant	rs1466991
Chromosome Location	chr4:48175596-48175597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48173412..48176298-chr4:48428298..48430775,2	K562	blood:
2	chr4:48171039..48173617-chr4:48175205..48177661,3	MCF-7	breast:
3	chr4:48174022..48176386-chr4:48181420..48183923,2	K562	blood:
4	chr4:48168015..48170294-chr4:48173927..48176191,2	K562	blood:
5	chr4:48175041..48176757-chr4:48255815..48257585,2	K562	blood:
6	chr4:48175434..48177430-chr4:48270272..48272228,2	K562	blood:
7	chr4:48175263..48177129-chr4:48197621..48199593,2	K562	blood:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1008277	0.90[EUR][1000 genomes]
rs10805164	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10805165	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10938522	0.91[EUR][1000 genomes]
rs11730441	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11733531	0.89[EUR][1000 genomes]
rs11941829	0.89[EUR][1000 genomes]
rs11945978	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12499541	0.96[ASN][1000 genomes]
rs12502268	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12502528	0.92[EUR][1000 genomes]
rs12512766	0.84[ASN][1000 genomes]
rs12512837	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649067	0.95[EUR][1000 genomes]
rs13146998	0.92[EUR][1000 genomes]
rs1466990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1466992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1466996	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961974	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961975	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071027	0.83[EUR][1000 genomes]
rs2089509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2089510	0.84[ASN][1000 genomes]
rs2089511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256425	0.99[EUR][1000 genomes]
rs2271173	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2271174	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2661543	0.84[ASN][1000 genomes]
rs2661544	0.84[ASN][1000 genomes]
rs2704433	0.84[ASN][1000 genomes]
rs34990592	0.88[EUR][1000 genomes]
rs3792620	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3792621	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3792622	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3805179	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3913948	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4323077	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392481	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392482	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4504220	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4695339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695341	0.84[ASN][1000 genomes]
rs4695342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61326763	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62309327	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844543	0.89[EUR][1000 genomes]
rs6845941	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6851861	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6858716	0.89[EUR][1000 genomes]
rs7654108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671720	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7680519	0.90[EUR][1000 genomes]
rs7695902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885443	0.89[EUR][1000 genomes]
rs955691	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1006853	chr4:48164958-48196335	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1011820	chr4:48170669-48186729	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv819982	chr4:48173420-48178259	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1011366	chr4:48173947-48186644	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1005668	chr4:48173947-48186729	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48157800-48181000	Weak transcription	Pancreas	Pancrea
2	chr4:48158400-48175600	Weak transcription	Adipose Nuclei	Adipose
3	chr4:48158400-48180600	Weak transcription	Spleen	Spleen
4	chr4:48158400-48181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
6	chr4:48158600-48179200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:48158600-48179400	Weak transcription	Fetal Intestine Small	intestine
8	chr4:48158800-48175600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:48158800-48180200	Weak transcription	Fetal Thymus	thymus
10	chr4:48159400-48177200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:48166400-48179600	Weak transcription	Thymus	Thymus
12	chr4:48169000-48180600	Weak transcription	Esophagus	oesophagus
13	chr4:48169000-48190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:48170600-48176800	Weak transcription	Liver	Liver
15	chr4:48170600-48181200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:48171200-48181600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:48172200-48175600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:48172200-48176600	Weak transcription	Fetal Heart	heart
19	chr4:48172400-48177400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:48172600-48177400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr4:48173400-48177000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:48173800-48188400	Weak transcription	Lung	lung
23	chr4:48174400-48176600	Enhancers	HSMM	muscle
24	chr4:48174400-48178000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:48174600-48175800	Enhancers	Stomach Mucosa	stomach
26	chr4:48174600-48176000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:48174800-48175800	Enhancers	Primary hematopoietic stem cells	blood
28	chr4:48174800-48176400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:48175000-48175800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:48175000-48176000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:48175000-48176000	Enhancers	Rectal Smooth Muscle	rectum
32	chr4:48175000-48176000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr4:48175000-48176200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:48175000-48176400	Enhancers	Osteobl	bone
35	chr4:48175200-48175600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:48175200-48175600	Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr4:48175200-48175600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:48175200-48175600	Flanking Active TSS	HSMMtube	muscle
39	chr4:48175200-48175600	Flanking Active TSS	K562	blood
40	chr4:48175200-48175800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:48175200-48175800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr4:48175200-48175800	Weak transcription	Right Atrium	heart
43	chr4:48175200-48176000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr4:48175200-48176000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:48175200-48176000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:48175200-48176000	Enhancers	HMEC	breast
47	chr4:48175200-48176000	Enhancers	NHLF	lung
48	chr4:48175200-48176200	Enhancers	Hela-S3	cervix
49	chr4:48175200-48176400	Enhancers	A549	lung
50	chr4:48175200-48176400	Enhancers	NHEK	skin

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