Variant report

Variant	rs11101144
Chromosome Location	chr10:50725342-50725343
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr10:50724999-50725636	Hela-S3	cervix:	n/a	n/a
2	JUND	chr10:50725040-50725627	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50724821..50729589-chr10:50731335..50734731,5	K562	blood:
2	chr10:50712711..50715456-chr10:50724740..50726788,2	K562	blood:

Variant related genes	Relation type
PGBD3	TF binding region
ENSG00000225830	Chromatin interaction
ENSG00000243251	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10776575	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10857497	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10857504	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10857506	0.81[ASN][1000 genomes]
rs10857510	0.84[AMR][1000 genomes]
rs11591393	0.84[AMR][1000 genomes]
rs12146288	0.83[AMR][1000 genomes]
rs1917821	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2177819	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2229760	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2281792	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281793	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377900	0.80[ASN][1000 genomes]
rs3750747	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3793784	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4253038	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4253160	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4253190	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4253234	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7895633	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9971208	0.85[ASN][1000 genomes]
rs9988727	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1051636	chr10:50675292-50732280	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50686600-50727600	Weak transcription	Fetal Brain Male	brain
2	chr10:50686600-50731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:50690200-50728200	Weak transcription	Colonic Mucosa	Colon
4	chr10:50690800-50726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:50691000-50728200	Weak transcription	Gastric	stomach
6	chr10:50691600-50728400	Weak transcription	Fetal Kidney	kidney
7	chr10:50696400-50726200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:50696400-50731800	Weak transcription	Small Intestine	intestine
9	chr10:50702200-50725400	Weak transcription	Spleen	Spleen
10	chr10:50706400-50726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:50707000-50732200	Weak transcription	NHDF-Ad	bronchial
12	chr10:50707600-50735600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr10:50711600-50727800	Weak transcription	Right Atrium	heart
14	chr10:50715000-50732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:50715800-50727800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:50716200-50731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr10:50716800-50726600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:50717000-50727400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr10:50717200-50729400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr10:50717200-50731200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:50717200-50736200	Weak transcription	Colon Smooth Muscle	Colon
22	chr10:50717200-50746000	Weak transcription	Fetal Heart	heart
23	chr10:50717400-50737000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr10:50717600-50730600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr10:50717600-50731600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr10:50718200-50726200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:50718200-50729200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:50718600-50725400	Weak transcription	Ovary	ovary
29	chr10:50718600-50726600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:50718600-50726600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:50718800-50726200	Weak transcription	Brain Substantia Nigra	brain
32	chr10:50718800-50726200	Weak transcription	Fetal Stomach	stomach
33	chr10:50718800-50726600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr10:50718800-50727600	Weak transcription	Brain Angular Gyrus	brain
35	chr10:50718800-50727800	Weak transcription	Esophagus	oesophagus
36	chr10:50719800-50726000	Weak transcription	Fetal Intestine Small	intestine
37	chr10:50720000-50728200	Weak transcription	Fetal Thymus	thymus
38	chr10:50720400-50746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr10:50720600-50727000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr10:50721000-50726800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:50721000-50728000	Weak transcription	Thymus	Thymus
42	chr10:50721600-50734800	Weak transcription	A549	lung
43	chr10:50721800-50730000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr10:50722200-50726200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr10:50722200-50728000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:50722400-50727000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:50722800-50725400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr10:50722800-50727200	Strong transcription	HUVEC	blood vessel
49	chr10:50723000-50726200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:50723000-50726200	Strong transcription	Liver	Liver

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