Variant report

Variant	rs28374711
Chromosome Location	chr4:119963967-119963968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119961660..119966741-chr4:120131496..120138495,10	MCF-7	breast:
2	chr4:119961926..119964707-chr4:120220265..120223511,3	MCF-7	breast:
3	chr4:119957521..119966347-chr4:120131974..120135434,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164096	Chromatin interaction
ENSG00000178636	Chromatin interaction
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10005727	1.00[AMR][1000 genomes]
rs10032469	1.00[AMR][1000 genomes]
rs10032717	1.00[AMR][1000 genomes]
rs28375177	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28669724	1.00[AMR][1000 genomes]
rs28811044	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28814970	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58567791	1.00[AMR][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119956200-119967400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:119956200-119973200	Weak transcription	Psoas Muscle	Psoas
3	chr4:119956600-119964000	Enhancers	Rectal Smooth Muscle	rectum
4	chr4:119956800-119965600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:119957200-119964000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:119958800-119970400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:119959200-119964200	Enhancers	NHLF	lung
8	chr4:119960000-119964200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:119960200-119964800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:119960400-119964200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:119960400-119965000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:119960400-119965400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:119960600-119965400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:119961200-119964200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:119961800-119964200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr4:119961800-119965000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr4:119962200-119964000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:119962200-119964800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:119962200-119965600	Weak transcription	Right Ventricle	heart
20	chr4:119962200-119966000	Weak transcription	Ovary	ovary
21	chr4:119962200-119967600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:119962200-119967600	Weak transcription	Esophagus	oesophagus
23	chr4:119962200-119967600	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:119962200-119973200	Weak transcription	Left Ventricle	heart
25	chr4:119962200-119973200	Weak transcription	Right Atrium	heart
26	chr4:119962600-119964000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:119962600-119967600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:119962800-119964000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:119962800-119966000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:119963000-119964000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:119963000-119964200	Enhancers	HUVEC	blood vessel
32	chr4:119963000-119964400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:119963200-119964000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:119963200-119964000	Enhancers	Fetal Stomach	stomach
35	chr4:119963200-119964800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:119963200-119965800	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:119963200-119966200	Enhancers	NHDF-Ad	bronchial
38	chr4:119963200-119967600	Weak transcription	Brain Angular Gyrus	brain
39	chr4:119963200-119969600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:119963200-119970200	Weak transcription	Fetal Kidney	kidney
41	chr4:119963200-119973400	Weak transcription	Aorta	Aorta
42	chr4:119963400-119964400	Flanking Active TSS	A549	lung
43	chr4:119963400-119964800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:119963400-119964800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:119963400-119965000	Weak transcription	NHEK	skin
46	chr4:119963600-119964200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:119963600-119965000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr4:119963600-119967200	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:119963800-119964000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr4:119963800-119964000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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