Variant report

Variant	rs997478
Chromosome Location	chr4:74455774-74455775
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74448932..74451410-chr4:74453636..74455838,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10004505	0.82[AMR][1000 genomes]
rs10009048	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10011536	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10938088	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11728915	0.87[AMR][1000 genomes]
rs11729144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11943798	0.81[AMR][1000 genomes]
rs1247659	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115877	0.93[AMR][1000 genomes]
rs13135124	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13149172	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1569207	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16849727	0.93[AMR][1000 genomes]
rs1745300	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28838047	0.87[AMR][1000 genomes]
rs4574378	0.81[AMR][1000 genomes]
rs62312137	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837506	0.92[AMR][1000 genomes]
rs9997572	0.83[AMR][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74438000-74464800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:74440200-74457400	Weak transcription	Pancreas	Pancrea
3	chr4:74440200-74472600	Weak transcription	Gastric	stomach
4	chr4:74441200-74464800	Weak transcription	Placenta	Placenta
5	chr4:74446200-74456000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:74447000-74456000	Strong transcription	Fetal Thymus	thymus
7	chr4:74447600-74463400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:74448800-74456000	Weak transcription	Fetal Intestine Large	intestine
9	chr4:74449000-74470200	Weak transcription	Primary T cells from cord blood	blood
10	chr4:74449800-74461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:74451200-74456200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:74451200-74457200	Weak transcription	Thymus	Thymus
13	chr4:74453800-74457000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:74454600-74456600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:74454600-74456600	Enhancers	Primary B cells from peripheral blood	blood
16	chr4:74454800-74456000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:74454800-74456400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:74454800-74456600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:74454800-74456600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:74454800-74456600	Enhancers	HMEC	breast
21	chr4:74454800-74458600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:74455000-74455800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:74455000-74455800	Flanking Active TSS	NHEK	skin
24	chr4:74455000-74455800	Enhancers	NHLF	lung
25	chr4:74455000-74456000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr4:74455000-74456200	Enhancers	HSMM	muscle
27	chr4:74455000-74456400	Enhancers	Osteobl	bone
28	chr4:74455000-74456600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr4:74455000-74456600	Enhancers	NHDF-Ad	bronchial
30	chr4:74455200-74455800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:74455200-74456000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:74455200-74456000	Enhancers	Colon Smooth Muscle	Colon
33	chr4:74455200-74456400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:74455200-74456600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:74455200-74456600	Enhancers	Fetal Intestine Small	intestine
36	chr4:74455400-74455800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:74455400-74455800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:74455400-74455800	Enhancers	Liver	Liver
39	chr4:74455400-74458200	Enhancers	Stomach Mucosa	stomach
40	chr4:74455600-74455800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:74455600-74456200	Active TSS	GM12878-XiMat	blood
42	chr4:74455600-74456200	Enhancers	Hela-S3	cervix
43	chr4:74455600-74456400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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