Variant report

Variant	rs72893536
Chromosome Location	chr4:99808531-99808532
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99806694..99808815-chr4:99849308..99853402,4	K562	blood:
2	chr4:99800676..99802842-chr4:99806350..99809597,3	K562	blood:

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

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6833875	1.00[AFR][1000 genomes]
rs6846054	0.95[AFR][1000 genomes]
rs72893508	0.82[AFR][1000 genomes]
rs72893532	1.00[AFR][1000 genomes]
rs72893542	1.00[AFR][1000 genomes]
rs72893550	1.00[AFR][1000 genomes]
rs72893554	1.00[AFR][1000 genomes]
rs72893558	1.00[AFR][1000 genomes]
rs72905040	1.00[AFR][1000 genomes]
rs72905051	1.00[AFR][1000 genomes]
rs72905078	1.00[AFR][1000 genomes]
rs72905084	1.00[AFR][1000 genomes]
rs72905087	0.82[AFR][1000 genomes]
rs72906974	0.95[AFR][1000 genomes]
rs72906977	0.95[AFR][1000 genomes]
rs72906984	0.95[AFR][1000 genomes]
rs72906987	0.95[AFR][1000 genomes]
rs72909404	0.86[AFR][1000 genomes]
rs72909452	0.82[AFR][1000 genomes]
rs72909467	0.82[AFR][1000 genomes]
rs7669447	0.82[AFR][1000 genomes]
rs7672509	0.82[AFR][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:126 , 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	chr4:99796800-99814400	Weak transcription	Fetal Brain Male	brain
4	chr4:99797000-99826600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:99797400-99813400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:99797400-99813400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr4:99797400-99815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:99798400-99823000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:99798600-99824400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:99799000-99823000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:99799800-99811800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:99799800-99823200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:99800000-99811000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:99800000-99815000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:99800200-99813200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:99800200-99823400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:99800400-99823200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:99800600-99824200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr4:99800800-99813400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:99801400-99814400	Weak transcription	Psoas Muscle	Psoas
21	chr4:99801600-99829400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:99802200-99808600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:99802200-99809400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:99802200-99815200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:99802200-99824000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:99802400-99811400	Strong transcription	HMEC	breast
27	chr4:99802400-99812200	Strong transcription	Liver	Liver
28	chr4:99802400-99812800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:99802400-99814200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:99802600-99808800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr4:99802600-99811600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:99802600-99812800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr4:99802600-99813200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:99802600-99823800	Strong transcription	Fetal Thymus	thymus
35	chr4:99802600-99824400	Strong transcription	Dnd41	blood
36	chr4:99802800-99819600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:99802800-99824600	Weak transcription	Pancreas	Pancrea
38	chr4:99802800-99830200	Weak transcription	Ovary	ovary
39	chr4:99802800-99849000	Weak transcription	Aorta	Aorta
40	chr4:99803000-99808800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:99803000-99811200	Strong transcription	Placenta	Placenta
42	chr4:99803000-99825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:99803200-99812000	Weak transcription	Fetal Heart	heart
44	chr4:99803200-99816000	Weak transcription	Stomach Mucosa	stomach
45	chr4:99803200-99824200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr4:99803400-99817400	Weak transcription	NHLF	lung
47	chr4:99803800-99808600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:99803800-99812600	Strong transcription	K562	blood
49	chr4:99804000-99808800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:99804000-99808800	Strong transcription	Stomach Smooth Muscle	stomach

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