Variant report

Variant	rs28521602
Chromosome Location	chr2:144699903-144699904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144697977..144700307-chr2:144703407..144706089,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16823379	0.96[ASN][1000 genomes]
rs56271766	0.91[ASN][1000 genomes]
rs56385884	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62167032	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv875260	chr2:144675354-144703126	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144695400-144700200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:144695400-144702800	Weak transcription	Lung	lung
3	chr2:144695400-144704000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:144695400-144707600	Weak transcription	Pancreas	Pancrea
5	chr2:144695400-144714200	Weak transcription	Gastric	stomach
6	chr2:144695600-144704000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:144695600-144708800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:144696000-144704000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:144696000-144704000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:144696000-144713200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:144696200-144709800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:144696600-144706400	Weak transcription	HSMM	muscle
13	chr2:144696600-144712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:144696600-144717800	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:144697800-144702800	Weak transcription	Primary T cells from cord blood	blood
16	chr2:144697800-144706800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:144698000-144706800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:144698000-144709600	Weak transcription	Aorta	Aorta
19	chr2:144698200-144706600	Weak transcription	NHLF	lung
20	chr2:144698400-144702800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:144698400-144702800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:144698400-144702800	Weak transcription	Fetal Intestine Small	intestine
23	chr2:144698400-144702800	Weak transcription	NHDF-Ad	bronchial
24	chr2:144698400-144703200	Weak transcription	Fetal Brain Female	brain
25	chr2:144698400-144704000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:144698400-144704000	Weak transcription	Fetal Intestine Large	intestine
27	chr2:144698400-144704000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:144698400-144704000	Weak transcription	Spleen	Spleen
29	chr2:144698400-144704200	Weak transcription	Adipose Nuclei	Adipose
30	chr2:144698400-144706600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:144698400-144710800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:144698600-144706400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:144698600-144710400	Weak transcription	Ovary	ovary
34	chr2:144698800-144702800	Weak transcription	Fetal Stomach	stomach
35	chr2:144698800-144707800	Weak transcription	Fetal Kidney	kidney
36	chr2:144699000-144702200	Weak transcription	Fetal Brain Male	brain
37	chr2:144699000-144702600	Weak transcription	Fetal Lung	lung
38	chr2:144699000-144708200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:144699600-144730400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:144699800-144700200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:144699800-144700400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:144699800-144700400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:144699800-144700600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr2:144699800-144700800	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links