Variant report

Variant	rs72671672
Chromosome Location	chr4:119957687-119957688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119957521..119966347-chr4:120131974..120135434,12	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOZ2-2	chr4:119957649-119959674	NONHSAT098028

Variant related genes	Relation type
ENSG00000145390	Chromatin interaction
ENSG00000178636	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55982202	1.00[AMR][1000 genomes]
rs56167564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56231990	1.00[AMR][1000 genomes]
rs72669479	1.00[AMR][1000 genomes]
rs72671701	0.86[EUR][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119941800-119961200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:119947200-119959800	Weak transcription	Brain Anterior Caudate	brain
3	chr4:119948200-119961000	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:119948200-119961800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:119948200-119961800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:119949200-119961000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:119949200-119961000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:119949600-119959200	Weak transcription	Right Atrium	heart
9	chr4:119949800-119959800	Weak transcription	A549	lung
10	chr4:119952200-119961000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:119952600-119961800	Weak transcription	Brain Angular Gyrus	brain
12	chr4:119953200-119961000	Weak transcription	Brain Substantia Nigra	brain
13	chr4:119953200-119961800	Weak transcription	Esophagus	oesophagus
14	chr4:119953600-119963000	Weak transcription	Fetal Intestine Large	intestine
15	chr4:119954200-119958200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:119954200-119959000	Genic enhancers	HSMM	muscle
17	chr4:119954400-119961800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:119955200-119957800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:119955400-119957800	Enhancers	NHLF	lung
20	chr4:119955400-119958000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:119955600-119957800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:119955600-119958400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:119955800-119958800	Weak transcription	GM12878-XiMat	blood
24	chr4:119955800-119959600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:119955800-119961000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:119956000-119958600	Weak transcription	Aorta	Aorta
27	chr4:119956000-119961800	Weak transcription	Right Ventricle	heart
28	chr4:119956200-119957800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:119956200-119957800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr4:119956200-119959200	Weak transcription	Left Ventricle	heart
31	chr4:119956200-119960800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:119956200-119961800	Weak transcription	Fetal Stomach	stomach
33	chr4:119956200-119967400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:119956200-119973200	Weak transcription	Psoas Muscle	Psoas
35	chr4:119956400-119957800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr4:119956600-119959000	Genic enhancers	Colon Smooth Muscle	Colon
37	chr4:119956600-119962000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:119956600-119963000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:119956600-119964000	Enhancers	Rectal Smooth Muscle	rectum
40	chr4:119956800-119957800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:119956800-119957800	Enhancers	Osteobl	bone
42	chr4:119956800-119958000	Enhancers	NH-A	brain
43	chr4:119956800-119959600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:119956800-119965600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:119957000-119957800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:119957000-119957800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:119957000-119957800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:119957000-119957800	Enhancers	Placenta	Placenta
49	chr4:119957000-119957800	Enhancers	Ovary	ovary
50	chr4:119957000-119957800	Enhancers	Hela-S3	cervix

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