Variant report

Variant	rs73973116
Chromosome Location	chr2:179338505-179338506
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179332606..179336122-chr2:179336235..179340321,5	K562	blood:
2	chr2:179312045..179317660-chr2:179337933..179347437,24	MCF-7	breast:
3	chr2:179308283..179309953-chr2:179337042..179339264,2	MCF-7	breast:
4	chr2:179315309..179317085-chr2:179338029..179339680,2	MCF-7	breast:
5	chr2:179329836..179331443-chr2:179336697..179338844,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180228	Chromatin interaction
ENSG00000204311	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56043418	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56197274	1.00[AMR][1000 genomes]
rs56706093	1.00[AMR][1000 genomes]
rs61729159	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6757481	0.86[AFR][1000 genomes]
rs73973119	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73973120	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73973123	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7565338	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179316800-179338800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:179316800-179341800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:179316800-179342400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:179316800-179342600	Weak transcription	Aorta	Aorta
5	chr2:179316800-179342800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:179317000-179342000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:179317200-179342800	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:179317400-179341200	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:179317400-179341600	Weak transcription	GM12878-XiMat	blood
10	chr2:179318000-179342800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:179321200-179342400	Weak transcription	HSMM	muscle
12	chr2:179321200-179342400	Weak transcription	HSMMtube	muscle
13	chr2:179322800-179339000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:179325000-179338800	Weak transcription	Left Ventricle	heart
15	chr2:179325600-179342000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:179325800-179338800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:179326200-179342000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:179326200-179342400	Weak transcription	Adipose Nuclei	Adipose
19	chr2:179326200-179342600	Weak transcription	Primary T cells from cord blood	blood
20	chr2:179327000-179342400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:179327200-179341800	Weak transcription	NHLF	lung
22	chr2:179327200-179342400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:179327400-179341800	Weak transcription	HUVEC	blood vessel
24	chr2:179327800-179338800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:179328200-179342600	Weak transcription	Fetal Thymus	thymus
26	chr2:179328200-179342600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:179330400-179338600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:179330400-179341800	Weak transcription	NH-A	brain
29	chr2:179330400-179342000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:179330600-179338800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:179330600-179342400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:179330800-179342600	Weak transcription	Colonic Mucosa	Colon
33	chr2:179331200-179342800	Weak transcription	Lung	lung
34	chr2:179331600-179342400	Weak transcription	Psoas Muscle	Psoas
35	chr2:179331800-179342000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:179332200-179341800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:179332800-179342600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:179333000-179342400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:179333400-179341800	Weak transcription	Fetal Intestine Small	intestine
40	chr2:179334200-179338600	Weak transcription	Brain Germinal Matrix	brain
41	chr2:179334200-179342400	Weak transcription	Primary B cells from cord blood	blood
42	chr2:179334200-179342400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:179334400-179338600	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:179334400-179341600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:179334400-179342000	Weak transcription	Fetal Intestine Large	intestine
46	chr2:179334600-179340600	Weak transcription	Dnd41	blood
47	chr2:179334600-179341800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:179334600-179341800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:179335000-179338800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:179335000-179342400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links