Variant report

Variant	rs4648232
Chromosome Location	chr2:37341434-37341435
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37334570..37336968-chr2:37340663..37343995,3	K562	blood:
2	chr2:37266157..37269087-chr2:37341136..37344012,2	K562	blood:
3	chr2:37332029..37334141-chr2:37339201..37341578,2	K562	blood:

Variant related genes	Relation type
ENSG00000055332	Chromatin interaction

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

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

rs_ID	r²[population]
rs4648234	0.82[AFR][1000 genomes]
rs55679447	0.86[AFR][1000 genomes]
rs56725132	0.88[AFR][1000 genomes]
rs73924977	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924981	0.93[AFR][1000 genomes];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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312200-37346000	Weak transcription	Pancreas	Pancrea
2	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:37313200-37346000	Weak transcription	Stomach Mucosa	stomach
4	chr2:37313400-37361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:37314400-37347000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:37314600-37346800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:37315600-37367000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:37319000-37346600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:37319000-37347000	Strong transcription	Dnd41	blood
10	chr2:37319200-37377200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:37320000-37346600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:37320600-37368000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:37321600-37344800	Weak transcription	Gastric	stomach
14	chr2:37321600-37348600	Weak transcription	Colonic Mucosa	Colon
15	chr2:37322400-37352200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:37324800-37344400	Strong transcription	Adipose Nuclei	Adipose
17	chr2:37326800-37346600	Strong transcription	GM12878-XiMat	blood
18	chr2:37327000-37349200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:37328200-37349000	Weak transcription	Aorta	Aorta
20	chr2:37329400-37345600	Weak transcription	NHLF	lung
21	chr2:37331000-37341600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:37331200-37348800	Weak transcription	K562	blood
23	chr2:37331400-37346800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:37331600-37347200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr2:37331600-37347400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:37332400-37344000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:37332600-37346600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:37332600-37375200	Strong transcription	Liver	Liver
29	chr2:37332800-37346600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:37332800-37351200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:37333200-37379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:37333400-37362400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:37333400-37366400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:37333800-37346000	Strong transcription	HepG2	liver
35	chr2:37334000-37346000	Weak transcription	Small Intestine	intestine
36	chr2:37335600-37370400	Weak transcription	Fetal Heart	heart
37	chr2:37335800-37345800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:37336200-37346000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:37336400-37343600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:37336400-37383200	Weak transcription	Psoas Muscle	Psoas
41	chr2:37336600-37343400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:37336600-37343600	Weak transcription	Fetal Kidney	kidney
43	chr2:37336600-37343600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:37336600-37346000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:37336600-37352600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:37336800-37342400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:37336800-37342600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:37336800-37342600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:37336800-37342800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:37336800-37342800	Weak transcription	Brain Hippocampus Middle	brain

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