Variant report

Variant	rs6817928
Chromosome Location	chr4:48163712-48163713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11727920	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732808	1.00[ASN][1000 genomes]
rs16861112	1.00[ASN][1000 genomes]
rs73244495	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73244496	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244499	1.00[AMR][1000 genomes];0.91[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	chr4:48152600-48164000	Weak transcription	HSMM	muscle
3	chr4:48156000-48168000	Weak transcription	Esophagus	oesophagus
4	chr4:48157800-48175400	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:48157800-48181000	Weak transcription	Pancreas	Pancrea
6	chr4:48158400-48164000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:48158400-48164000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:48158400-48168000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:48158400-48168000	Weak transcription	Gastric	stomach
10	chr4:48158400-48169600	Weak transcription	K562	blood
11	chr4:48158400-48170800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:48158400-48171400	Weak transcription	Fetal Lung	lung
13	chr4:48158400-48171400	Weak transcription	Left Ventricle	heart
14	chr4:48158400-48171400	Weak transcription	Psoas Muscle	Psoas
15	chr4:48158400-48172200	Weak transcription	Colonic Mucosa	Colon
16	chr4:48158400-48172200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:48158400-48175000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:48158400-48175600	Weak transcription	Adipose Nuclei	Adipose
19	chr4:48158400-48180600	Weak transcription	Spleen	Spleen
20	chr4:48158400-48181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
22	chr4:48158600-48164200	Weak transcription	Liver	Liver
23	chr4:48158600-48167600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:48158600-48179200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:48158600-48179400	Weak transcription	Fetal Intestine Small	intestine
26	chr4:48158800-48164200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:48158800-48167800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:48158800-48168000	Weak transcription	Fetal Intestine Large	intestine
29	chr4:48158800-48168800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:48158800-48171000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:48158800-48174600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:48158800-48175600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:48158800-48180200	Weak transcription	Fetal Thymus	thymus
34	chr4:48159400-48177200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:48159600-48166000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr4:48159600-48167600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr4:48159600-48169800	Strong transcription	GM12878-XiMat	blood
38	chr4:48159800-48169600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:48160000-48164600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:48160400-48168000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr4:48160400-48168800	Weak transcription	Primary B cells from cord blood	blood
42	chr4:48160400-48174400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:48161200-48164200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr4:48163200-48164200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:48163200-48164800	Enhancers	HSMMtube	muscle
46	chr4:48163600-48164800	Enhancers	Muscle Satellite Cultured Cells	--

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