Variant report

Variant	rs57266345
Chromosome Location	chr3:98495555-98495556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98494773..98497684-chr3:98500222..98503484,3	K562	blood:

Variant related genes	Relation type
ENSG00000064225	Chromatin interaction
ENSG00000249274	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1675530	1.00[AMR][1000 genomes]
rs1729991	1.00[AMR][1000 genomes]
rs58255898	0.82[AFR][1000 genomes]
rs59684850	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61228839	0.91[AFR][1000 genomes]
rs72930963	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930970	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930975	1.00[AMR][1000 genomes]
rs72934618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934634	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936606	1.00[AFR][1000 genomes]
rs72936636	0.91[AFR][1000 genomes]
rs72936671	0.87[AFR][1000 genomes]
rs72936680	0.87[AFR][1000 genomes]
rs72938508	0.91[AFR][1000 genomes]
rs72938510	0.91[AFR][1000 genomes]
rs72938569	0.91[AFR][1000 genomes]
rs72940503	0.91[AFR][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	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	17 gene(s)	inside rSNPs	diseases
5	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98478800-98515200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:98482200-98495800	Weak transcription	Dnd41	blood
3	chr3:98482400-98496000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:98482600-98501800	Weak transcription	Fetal Stomach	stomach
5	chr3:98482800-98497400	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:98483000-98497400	Weak transcription	Spleen	Spleen
7	chr3:98483000-98517600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:98483200-98518000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:98483600-98513600	Weak transcription	Brain Germinal Matrix	brain
10	chr3:98483800-98496400	Weak transcription	Fetal Lung	lung
11	chr3:98483800-98515000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:98484000-98498000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:98484000-98514000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:98484200-98515200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:98484800-98529800	Weak transcription	Primary B cells from cord blood	blood
16	chr3:98485000-98496200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:98488200-98496800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:98488600-98496200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:98488600-98497200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr3:98488600-98497200	Weak transcription	Fetal Kidney	kidney
21	chr3:98489600-98497000	Weak transcription	Lung	lung
22	chr3:98489800-98495800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:98489800-98496000	Weak transcription	Stomach Mucosa	stomach
24	chr3:98489800-98496200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr3:98489800-98496400	Weak transcription	Placenta	Placenta
26	chr3:98489800-98496600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:98489800-98496600	Weak transcription	Adipose Nuclei	Adipose
28	chr3:98489800-98497000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:98489800-98497400	Weak transcription	Right Ventricle	heart
30	chr3:98489800-98497600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:98489800-98503000	Weak transcription	Psoas Muscle	Psoas
32	chr3:98490000-98495800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:98490000-98496200	Weak transcription	Brain Substantia Nigra	brain
34	chr3:98490000-98496400	Weak transcription	Brain Anterior Caudate	brain
35	chr3:98490200-98496000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:98490200-98496000	Weak transcription	Brain Angular Gyrus	brain
37	chr3:98490200-98496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:98490200-98525200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:98490400-98497400	Weak transcription	Fetal Brain Female	brain
40	chr3:98490600-98495600	Weak transcription	HMEC	breast
41	chr3:98491600-98496600	Strong transcription	Primary hematopoietic stem cells	blood
42	chr3:98491600-98497400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:98492200-98517800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:98493200-98495800	Weak transcription	HUVEC	blood vessel
45	chr3:98493600-98496800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:98493800-98496000	Weak transcription	NH-A	brain
47	chr3:98493800-98498400	Enhancers	HepG2	liver
48	chr3:98493800-98499600	Enhancers	Fetal Intestine Large	intestine
49	chr3:98494000-98497000	Strong transcription	Thymus	Thymus
50	chr3:98494400-98497200	Genic enhancers	Monocytes-CD14+_RO01746	blood

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