Variant report

Variant	rs72913054
Chromosome Location	chr2:191436620-191436621
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191435113..191437081-chr2:191440439..191443139,3	MCF-7	breast:
2	chr2:191426756..191429065-chr2:191435879..191437749,2	K562	blood:
3	chr2:191433891..191435681-chr2:191435734..191438832,3	K562	blood:
4	chr2:191434026..191436627-chr2:191744647..191746708,2	K562	blood:

Variant related genes	Relation type
ENSG00000115419	Chromatin interaction

rs_ID	r²[population]
rs12613768	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4146924	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4340550	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61488489	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66479066	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72917118	0.81[AMR][1000 genomes]

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191411000-191443000	Weak transcription	Right Atrium	heart
2	chr2:191427200-191443000	Weak transcription	Right Ventricle	heart
3	chr2:191427600-191441400	Weak transcription	Aorta	Aorta
4	chr2:191431200-191437000	Weak transcription	Stomach Mucosa	stomach
5	chr2:191433000-191440600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:191434600-191439400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:191434600-191439400	Enhancers	HMEC	breast
8	chr2:191434600-191439400	Enhancers	NHEK	skin
9	chr2:191434800-191438400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:191435000-191438400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:191435000-191439400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:191435400-191438400	Weak transcription	Esophagus	oesophagus
13	chr2:191435400-191443000	Weak transcription	Left Ventricle	heart
14	chr2:191435600-191437000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:191435600-191438000	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:191436200-191439400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:191436400-191436800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:191436400-191436800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:191436400-191436800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:191436400-191436800	Enhancers	Brain Anterior Caudate	brain
21	chr2:191436400-191436800	Enhancers	Brain Hippocampus Middle	brain
22	chr2:191436400-191436800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:191436400-191437200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:191436400-191439200	Enhancers	Fetal Stomach	stomach
25	chr2:191436400-191439200	Enhancers	Hela-S3	cervix
26	chr2:191436400-191439400	Enhancers	A549	lung
27	chr2:191436600-191436800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:191436600-191436800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:191436600-191438400	Enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links