Variant report

Variant	rs4705811
Chromosome Location	chr5:112623250-112623251
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	chr5:112621858..112623508-chr5:112628584..112630784,2	K562	blood:

Variant related genes	Relation type
ENSG00000171444	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11241197	0.86[ASN][1000 genomes]
rs11740045	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11741794	0.86[ASN][1000 genomes]
rs11741937	0.86[ASN][1000 genomes]
rs11744606	0.81[ASN][1000 genomes]
rs11746532	0.86[ASN][1000 genomes]
rs11748465	0.86[ASN][1000 genomes]
rs11748524	0.86[ASN][1000 genomes]
rs11749864	0.86[ASN][1000 genomes]
rs12523027	0.86[ASN][1000 genomes]
rs12523284	0.86[ASN][1000 genomes]
rs17135520	0.84[ASN][1000 genomes]
rs17135526	0.83[ASN][1000 genomes]
rs17135531	0.83[ASN][1000 genomes]
rs17135534	0.81[EUR][1000 genomes]
rs17135535	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17135542	0.83[EUR][1000 genomes]
rs17135543	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17135546	0.84[ASN][1000 genomes]
rs1845289	0.86[ASN][1000 genomes]
rs56362568	0.88[ASN][1000 genomes]
rs6887565	0.81[ASN][1000 genomes]
rs6888602	0.81[ASN][1000 genomes]
rs73246629	0.86[ASN][1000 genomes]
rs73246648	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73246657	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73246677	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73246681	0.86[ASN][1000 genomes]
rs971370	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs971371	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs971373	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs977997	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112586600-112623600	Weak transcription	Pancreas	Pancrea
2	chr5:112608000-112628200	Weak transcription	HMEC	breast
3	chr5:112610000-112628200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:112611000-112628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:112612000-112623800	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:112612000-112625200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:112612200-112625200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:112614200-112625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:112615000-112625200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:112616800-112623400	Weak transcription	NHEK	skin
11	chr5:112616800-112623800	Weak transcription	Esophagus	oesophagus
12	chr5:112617800-112625400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:112617800-112628600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:112618200-112623600	Weak transcription	Gastric	stomach
15	chr5:112618400-112628000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:112618400-112628200	Weak transcription	Fetal Kidney	kidney
17	chr5:112618400-112628200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:112618400-112628400	Weak transcription	Fetal Stomach	stomach
19	chr5:112618600-112625600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:112619000-112626800	Weak transcription	Liver	Liver
21	chr5:112619000-112628600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:112619000-112628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:112619200-112625600	Weak transcription	Fetal Lung	lung
24	chr5:112619400-112624000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:112619400-112625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:112619600-112625200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:112620000-112628200	Weak transcription	Brain Anterior Caudate	brain
28	chr5:112620000-112628200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:112620400-112625200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:112621600-112623800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:112621600-112625200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:112622000-112625200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr5:112622000-112626800	Weak transcription	Right Ventricle	heart
34	chr5:112622200-112623800	Weak transcription	Psoas Muscle	Psoas
35	chr5:112622400-112623400	Weak transcription	Right Atrium	heart
36	chr5:112622400-112624200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:112622400-112626800	Weak transcription	Fetal Heart	heart
38	chr5:112622600-112626800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:112622800-112623400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:112622800-112623600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:112622800-112624000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:112623200-112623800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:112623200-112624000	Enhancers	Left Ventricle	heart
44	chr5:112623200-112624000	Genic enhancers	Ovary	ovary

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