Variant report

Variant	rs11722494
Chromosome Location	chr4:99822587-99822588
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99820184..99824299-chr4:99848695..99851008,3	K562	blood:
2	chr4:99821499..99832064-chr4:99845860..99851281,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238449	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000263923	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1154412	1.00[ASN][1000 genomes]
rs11727079	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727086	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731092	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13107184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13107892	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13110878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115072	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115688	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13124855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127259	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130454	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13832	1.00[ASN][1000 genomes]
rs17511498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17570252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17583053	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004994	1.00[ASN][1000 genomes]
rs2230574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018048	1.00[ASN][1000 genomes]
rs34073334	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34116542	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34164768	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34445885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34552530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34849916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35019647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35360485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35619083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35885444	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36061550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699689	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699692	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323189	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323190	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323206	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67650226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692635	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7688221	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688461	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896992	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv879655	chr4:99783733-99843113	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99792400-99825000	Weak transcription	Gastric	stomach
2	chr4:99796000-99826400	Weak transcription	Right Ventricle	heart
3	chr4:99797000-99826600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:99798400-99823000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:99798600-99824400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:99799000-99823000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:99799800-99823200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:99800200-99823400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:99800400-99823200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:99800600-99824200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr4:99801600-99829400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:99802200-99824000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:99802600-99823800	Strong transcription	Fetal Thymus	thymus
14	chr4:99802600-99824400	Strong transcription	Dnd41	blood
15	chr4:99802800-99824600	Weak transcription	Pancreas	Pancrea
16	chr4:99802800-99830200	Weak transcription	Ovary	ovary
17	chr4:99802800-99849000	Weak transcription	Aorta	Aorta
18	chr4:99803000-99825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:99803200-99824200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:99804400-99848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:99804600-99838400	Weak transcription	Esophagus	oesophagus
22	chr4:99805000-99823200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:99805200-99832000	Weak transcription	Spleen	Spleen
24	chr4:99807200-99849000	Weak transcription	Colonic Mucosa	Colon
25	chr4:99807400-99826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:99807600-99824000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:99807800-99832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:99808000-99841400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:99808600-99830600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:99808600-99849000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:99809800-99823600	Strong transcription	GM12878-XiMat	blood
32	chr4:99812200-99826400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:99812600-99823800	Weak transcription	Fetal Heart	heart
34	chr4:99812800-99824400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:99813400-99823400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:99813400-99825800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:99813600-99823200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:99814000-99823800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:99814200-99823200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:99814200-99823200	Strong transcription	Primary B cells from cord blood	blood
41	chr4:99814200-99823200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr4:99814200-99823600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr4:99814400-99823200	Strong transcription	HMEC	breast
44	chr4:99814800-99823200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:99815800-99824600	Weak transcription	Right Atrium	heart
46	chr4:99815800-99848200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr4:99816000-99822600	Weak transcription	Psoas Muscle	Psoas
48	chr4:99816000-99825200	Weak transcription	Small Intestine	intestine
49	chr4:99816200-99823000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:99816200-99823400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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