Variant report

Variant	rs11744374
Chromosome Location	chr5:107707331-107707332
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:107702113..107704886-chr5:107707019..107708765,2	K562	blood:
2	chr5:107705977..107708184-chr5:107711910..107713807,2	MCF-7	breast:
3	chr5:107703047..107709148-chr5:107715421..107721287,10	K562	blood:
4	chr5:107703017..107709518-chr5:107714821..107720551,7	MCF-7	breast:
5	chr5:107697658..107700570-chr5:107705243..107707964,2	K562	blood:
6	chr5:107705561..107708007-chr5:107713920..107718411,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145743	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10036343	0.92[EUR][1000 genomes]
rs10041907	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10063449	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10071595	0.91[EUR][1000 genomes]
rs10072270	0.94[EUR][1000 genomes]
rs10075907	0.89[EUR][1000 genomes]
rs11743651	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13178456	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1849011	0.88[EUR][1000 genomes]
rs2029104	0.90[EUR][1000 genomes]
rs2044709	0.84[EUR][1000 genomes]
rs2044710	0.89[EUR][1000 genomes]
rs2112306	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2122158	0.90[EUR][1000 genomes]
rs2167001	0.90[EUR][1000 genomes]
rs2416188	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28497144	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs286764	0.81[EUR][1000 genomes]
rs2922423	0.89[EUR][1000 genomes]
rs2922424	0.90[EUR][1000 genomes]
rs2922426	0.89[EUR][1000 genomes]
rs2922427	0.89[EUR][1000 genomes]
rs2922428	0.90[EUR][1000 genomes]
rs2922429	0.90[EUR][1000 genomes]
rs2922430	0.81[EUR][1000 genomes]
rs2922433	0.87[EUR][1000 genomes]
rs2966795	0.90[EUR][1000 genomes]
rs2966797	0.90[EUR][1000 genomes]
rs2966799	0.90[EUR][1000 genomes]
rs34298471	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4541643	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4957553	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4957751	0.91[EUR][1000 genomes]
rs4957753	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55896795	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57222565	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6596770	0.80[EUR][1000 genomes]
rs6596771	0.80[EUR][1000 genomes]
rs6596777	0.88[EUR][1000 genomes]
rs6875297	0.94[EUR][1000 genomes]
rs6883082	0.80[EUR][1000 genomes]
rs7708996	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7717747	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7726298	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9326725	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs962680	0.89[EUR][1000 genomes]
rs989001	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv882688	chr5:107595383-107715746	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv2755544	chr5:107614101-107748101	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107654600-107709400	Weak transcription	Pancreas	Pancrea
2	chr5:107658600-107709200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr5:107663800-107709400	Weak transcription	Primary T cells from cord blood	blood
4	chr5:107667600-107709200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr5:107669200-107708400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:107675000-107709200	Weak transcription	Fetal Thymus	thymus
7	chr5:107677800-107709200	Weak transcription	Ovary	ovary
8	chr5:107680400-107707600	Weak transcription	Fetal Intestine Large	intestine
9	chr5:107688000-107707600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:107696600-107709200	Weak transcription	Fetal Lung	lung
11	chr5:107697200-107715200	Weak transcription	HSMM	muscle
12	chr5:107697600-107708000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:107697800-107707600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:107697800-107709200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:107698000-107707800	Weak transcription	Brain Anterior Caudate	brain
16	chr5:107698200-107715600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:107699000-107712800	Weak transcription	Right Ventricle	heart
18	chr5:107699600-107709200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:107700400-107707600	Weak transcription	Esophagus	oesophagus
20	chr5:107700600-107707600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:107700600-107707600	Weak transcription	NHDF-Ad	bronchial
22	chr5:107700600-107709000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:107700600-107709400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:107700800-107707600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:107701000-107709400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr5:107701200-107707600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:107701200-107709000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:107701200-107709400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:107702600-107709200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr5:107702600-107709200	Weak transcription	Psoas Muscle	Psoas
31	chr5:107702800-107707600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:107702800-107708200	Weak transcription	Fetal Kidney	kidney
33	chr5:107703000-107707400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:107703200-107707800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr5:107703400-107709200	Weak transcription	Thymus	Thymus
36	chr5:107703600-107707600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:107704000-107707600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:107704200-107707600	Weak transcription	Primary B cells from cord blood	blood
39	chr5:107705000-107709200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:107705000-107709200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:107705200-107707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:107705200-107707600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:107705600-107707600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:107705800-107709200	Weak transcription	Gastric	stomach
45	chr5:107706400-107710000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:107706400-107714200	Weak transcription	Left Ventricle	heart
47	chr5:107706800-107708000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr5:107707000-107707800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr5:107707000-107708000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links