Variant report

Variant	rs2464502
Chromosome Location	chr4:48161613-48161614
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	chr4:48156605..48158509-chr4:48159608..48162253,2	K562	blood:
2	chr4:48152941..48154960-chr4:48160415..48162410,2	K562	blood:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10027991	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10938524	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11944549	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332001	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512766	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1507919	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860999	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2089510	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2243840	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2661529	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661543	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2661544	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2661547	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661548	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704399	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2704426	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704433	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2704435	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2704436	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805184	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695341	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6447616	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814443	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819592	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7659164	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678246	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7689953	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs882715	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48150000-48164000	Weak transcription	Hela-S3	cervix
2	chr4:48152600-48163200	Weak transcription	HSMMtube	muscle
3	chr4:48152600-48164000	Weak transcription	HSMM	muscle
4	chr4:48156000-48168000	Weak transcription	Esophagus	oesophagus
5	chr4:48157800-48175400	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:48157800-48181000	Weak transcription	Pancreas	Pancrea
7	chr4:48158400-48162200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:48158400-48164000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:48158400-48164000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:48158400-48168000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:48158400-48168000	Weak transcription	Gastric	stomach
12	chr4:48158400-48169600	Weak transcription	K562	blood
13	chr4:48158400-48170800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:48158400-48171400	Weak transcription	Fetal Lung	lung
15	chr4:48158400-48171400	Weak transcription	Left Ventricle	heart
16	chr4:48158400-48171400	Weak transcription	Psoas Muscle	Psoas
17	chr4:48158400-48172200	Weak transcription	Colonic Mucosa	Colon
18	chr4:48158400-48172200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:48158400-48175000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:48158400-48175600	Weak transcription	Adipose Nuclei	Adipose
21	chr4:48158400-48180600	Weak transcription	Spleen	Spleen
22	chr4:48158400-48181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
24	chr4:48158600-48164200	Weak transcription	Liver	Liver
25	chr4:48158600-48167600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:48158600-48179200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:48158600-48179400	Weak transcription	Fetal Intestine Small	intestine
28	chr4:48158800-48164200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr4:48158800-48167800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:48158800-48168000	Weak transcription	Fetal Intestine Large	intestine
31	chr4:48158800-48168800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:48158800-48171000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:48158800-48174600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:48158800-48175600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:48158800-48180200	Weak transcription	Fetal Thymus	thymus
36	chr4:48159400-48162400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:48159400-48177200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:48159600-48166000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr4:48159600-48167600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr4:48159600-48169800	Strong transcription	GM12878-XiMat	blood
41	chr4:48159800-48169600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:48160000-48164600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:48160400-48168000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr4:48160400-48168800	Weak transcription	Primary B cells from cord blood	blood
45	chr4:48160400-48174400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:48161200-48164200	Weak transcription	Monocytes-CD14+_RO01746	blood

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