Variant report

Variant	rs742547
Chromosome Location	chr22:28412908-28412909
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28412014..28413767-chr22:28838312..28839974,2	K562	blood:

Variant related genes	Relation type
ENSG00000100154	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs135640	0.90[CEU][hapmap];0.86[JPT][hapmap]
rs138666	0.95[ASN][1000 genomes]
rs2073029	0.91[JPT][hapmap];0.81[AFR][1000 genomes]
rs5762481	0.82[JPT][hapmap]
rs6005693	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28386200-28416000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr22:28389200-28413000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:28390000-28414600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:28390400-28416200	Weak transcription	Colonic Mucosa	Colon
5	chr22:28394800-28414000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr22:28395000-28416400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr22:28395600-28413000	Weak transcription	Pancreas	Pancrea
8	chr22:28396000-28422400	Weak transcription	Primary T cells from cord blood	blood
9	chr22:28397200-28423000	Weak transcription	HepG2	liver
10	chr22:28399400-28425800	Weak transcription	Liver	Liver
11	chr22:28405200-28414000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:28405400-28415000	Weak transcription	HSMM	muscle
13	chr22:28405400-28416200	Weak transcription	NHDF-Ad	bronchial
14	chr22:28405400-28416200	Weak transcription	NHLF	lung
15	chr22:28405400-28416400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:28405400-28416400	Weak transcription	Fetal Kidney	kidney
17	chr22:28405600-28414800	Weak transcription	HSMMtube	muscle
18	chr22:28405800-28414000	Weak transcription	Psoas Muscle	Psoas
19	chr22:28405800-28416000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr22:28405800-28416200	Weak transcription	Left Ventricle	heart
21	chr22:28408800-28416200	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr22:28409000-28428000	Genic enhancers	Fetal Muscle Leg	muscle
23	chr22:28409200-28416200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr22:28409400-28415800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr22:28409400-28430400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:28409600-28416000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr22:28410000-28413200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr22:28410000-28414400	Enhancers	Fetal Brain Male	brain
29	chr22:28410000-28415000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:28410000-28416000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:28410200-28415200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr22:28410200-28415800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr22:28410200-28416000	Weak transcription	Brain Substantia Nigra	brain
34	chr22:28410200-28423000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:28410200-28423400	Weak transcription	Gastric	stomach
36	chr22:28410400-28413000	Enhancers	Brain Germinal Matrix	brain
37	chr22:28410400-28413400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:28410400-28415000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:28410400-28415800	Weak transcription	Brain Angular Gyrus	brain
40	chr22:28410400-28416200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr22:28410400-28424200	Weak transcription	Aorta	Aorta
42	chr22:28411000-28414000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:28411000-28416000	Weak transcription	Ovary	ovary
44	chr22:28411000-28423600	Weak transcription	Fetal Intestine Large	intestine
45	chr22:28411200-28413200	Enhancers	Right Atrium	heart
46	chr22:28411400-28414600	Weak transcription	Spleen	Spleen
47	chr22:28411600-28413800	Enhancers	Esophagus	oesophagus
48	chr22:28411800-28413200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr22:28411800-28414200	Enhancers	Fetal Heart	heart
50	chr22:28411800-28414400	Weak transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links