Variant report

Variant	rs72967449
Chromosome Location	chr3:53199618-53199619
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53188104..53190681-chr3:53198828..53201211,3	K562	blood:
2	chr3:53199183..53202732-chr3:53204136..53207026,5	K562	blood:
3	chr3:53194953..53199207-chr3:53199454..53201631,4	K562	blood:
4	chr3:53197947..53200890-chr3:53261082..53263674,2	K562	blood:
5	chr3:53195153..53196714-chr3:53199399..53202103,2	K562	blood:
6	chr3:53188104..53190681-chr3:53199532..53201211,2	K562	blood:

Variant related genes	Relation type
ENSG00000163932	Chromatin interaction
ENSG00000163931	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13319192	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2035451	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56972966	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59254509	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750527	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750528	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9862206	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53196400-53202000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:53196400-53210200	Weak transcription	Psoas Muscle	Psoas
3	chr3:53196400-53212400	Weak transcription	Aorta	Aorta
4	chr3:53196600-53199800	Weak transcription	Brain Germinal Matrix	brain
5	chr3:53196600-53200000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:53196600-53204000	Weak transcription	Small Intestine	intestine
7	chr3:53197000-53200400	Weak transcription	Liver	Liver
8	chr3:53197000-53200400	Weak transcription	HSMMtube	muscle
9	chr3:53197000-53202000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:53197200-53199800	Weak transcription	NH-A	brain
11	chr3:53197200-53200200	Weak transcription	HUVEC	blood vessel
12	chr3:53197200-53200400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:53197200-53200400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:53197200-53200400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:53197200-53200400	Weak transcription	Brain Angular Gyrus	brain
16	chr3:53197200-53200400	Weak transcription	HSMM	muscle
17	chr3:53197200-53200600	Weak transcription	Fetal Kidney	kidney
18	chr3:53197200-53200800	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:53197200-53201800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:53197200-53205400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:53197200-53213400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:53197400-53199800	Weak transcription	Placenta	Placenta
23	chr3:53197400-53199800	Weak transcription	Right Atrium	heart
24	chr3:53197400-53199800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:53197400-53199800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:53197400-53200000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:53197400-53200200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:53197400-53200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:53197400-53200400	Weak transcription	Ovary	ovary
30	chr3:53197400-53200600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:53197400-53200800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:53197400-53200800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr3:53197400-53202000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:53197400-53202200	Weak transcription	Brain Substantia Nigra	brain
35	chr3:53197400-53203000	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr3:53197400-53207000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr3:53197600-53199800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:53197600-53200200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:53197600-53200400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:53197600-53200400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:53197600-53200400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr3:53197600-53201000	Weak transcription	HepG2	liver
43	chr3:53197600-53201800	Enhancers	Stomach Mucosa	stomach
44	chr3:53197600-53202000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:53197600-53204200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:53197600-53206600	Genic enhancers	Fetal Intestine Small	intestine
47	chr3:53197600-53206800	Weak transcription	Primary T cells from cord blood	blood
48	chr3:53197600-53227600	Weak transcription	Hela-S3	cervix
49	chr3:53197800-53199800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:53197800-53200200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links