Variant report

Variant	rs73261565
Chromosome Location	chr12:4243939-4243940
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	chr12:4242954..4245466-chr12:4380001..4382165,3	K562	blood:
2	chr12:4238440..4240591-chr12:4242503..4244321,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57485269	0.86[AFR][1000 genomes]
rs58362859	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58564884	0.86[AFR][1000 genomes]
rs61475476	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73243922	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73261546	0.84[AFR][1000 genomes]
rs73261573	0.80[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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4227200-4252000	Weak transcription	Pancreas	Pancrea
2	chr12:4229200-4245000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:4237000-4244200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:4240800-4245400	Weak transcription	Primary T cells from cord blood	blood
5	chr12:4241000-4248400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:4241800-4247200	Enhancers	Fetal Muscle Leg	muscle
7	chr12:4242000-4244800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:4242000-4247200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:4242200-4244000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:4242200-4246000	Enhancers	Placenta	Placenta
11	chr12:4242200-4246600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:4242200-4246800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:4242200-4247000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:4242200-4247200	Enhancers	Fetal Muscle Trunk	muscle
15	chr12:4242400-4244000	Enhancers	HSMMtube	muscle
16	chr12:4242400-4244400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:4242400-4244800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:4242600-4244400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:4242600-4246600	Enhancers	Fetal Stomach	stomach
20	chr12:4242800-4244400	Enhancers	Lung	lung
21	chr12:4242800-4244400	Enhancers	HSMM	muscle
22	chr12:4242800-4245400	Enhancers	GM12878-XiMat	blood
23	chr12:4242800-4246200	Enhancers	Fetal Lung	lung
24	chr12:4242800-4247000	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:4243000-4244000	Enhancers	Adipose Nuclei	Adipose
26	chr12:4243000-4244600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr12:4243000-4244600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr12:4243000-4246600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:4243200-4244200	Enhancers	Ovary	ovary
30	chr12:4243200-4244400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr12:4243200-4244400	Enhancers	Fetal Heart	heart
32	chr12:4243200-4244400	Enhancers	Right Ventricle	heart
33	chr12:4243200-4244600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:4243200-4244600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr12:4243200-4244800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:4243200-4246200	Enhancers	Spleen	Spleen
37	chr12:4243200-4246600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:4243200-4247000	Enhancers	Fetal Thymus	thymus
39	chr12:4243200-4247200	Enhancers	Primary B cells from cord blood	blood
40	chr12:4243200-4250600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:4243400-4244000	Enhancers	Fetal Intestine Small	intestine
42	chr12:4243400-4244200	Enhancers	HUVEC	blood vessel
43	chr12:4243400-4244400	Active TSS	H9 Cell Line	embryonic stem cell
44	chr12:4243400-4244400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:4243400-4244400	Enhancers	Fetal Intestine Large	intestine
46	chr12:4243400-4245000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:4243400-4245200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr12:4243400-4245200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:4243400-4245400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr12:4243400-4246800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links