Variant report

Variant	rs11944638
Chromosome Location	chr4:48227719-48227720
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	chr4:48227365..48229735-chr4:48239448..48242310,2	K562	blood:
2	chr4:48222896..48226335-chr4:48226766..48230334,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1159075	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11722540	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11942525	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2136504	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34585972	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66944352	0.92[ASN][1000 genomes]
rs6829390	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73138446	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73138447	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73138450	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73138478	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73814690	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48207400-48227800	Weak transcription	Esophagus	oesophagus
2	chr4:48214800-48231200	Weak transcription	Liver	Liver
3	chr4:48215000-48228200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:48215600-48232400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:48219600-48227800	Weak transcription	Lung	lung
6	chr4:48220400-48242200	Weak transcription	Aorta	Aorta
7	chr4:48221400-48230400	Weak transcription	Pancreas	Pancrea
8	chr4:48222000-48229800	Weak transcription	Thymus	Thymus
9	chr4:48222000-48235000	Weak transcription	Fetal Thymus	thymus
10	chr4:48223200-48231400	Weak transcription	Fetal Intestine Small	intestine
11	chr4:48223400-48227800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:48224600-48229600	Weak transcription	K562	blood
13	chr4:48224600-48230600	Weak transcription	Adipose Nuclei	Adipose
14	chr4:48224600-48231200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr4:48225200-48227800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:48225800-48231400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr4:48226000-48229600	Weak transcription	HSMMtube	muscle
18	chr4:48226200-48227800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:48226400-48231200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:48226600-48229600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:48227000-48228000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr4:48227000-48231800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:48227200-48228200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:48227200-48228400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:48227400-48228000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr4:48227400-48228000	Genic enhancers	GM12878-XiMat	blood
27	chr4:48227400-48228200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:48227400-48228200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:48227400-48228400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:48227400-48228400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:48227400-48228800	Enhancers	Primary B cells from cord blood	blood
32	chr4:48227400-48231200	Weak transcription	Fetal Lung	lung
33	chr4:48227600-48228200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:48227600-48228200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr4:48227600-48229600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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