Variant report

Variant	rs73261573
Chromosome Location	chr12:4251611-4251612
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	chr12:4244218..4247672-chr12:4248422..4253383,4	K562	blood:
2	chr12:4244497..4246706-chr12:4251170..4253999,2	K562	blood:

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

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

rs_ID	r²[population]
rs58362859	1.00[AMR][1000 genomes]
rs61475476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73243922	1.00[AMR][1000 genomes]
rs73261565	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4227200-4252000	Weak transcription	Pancreas	Pancrea
2	chr12:4243600-4255200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:4244800-4253200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:4245200-4251800	Weak transcription	Fetal Intestine Large	intestine
5	chr12:4245800-4251800	Weak transcription	HSMM	muscle
6	chr12:4245800-4252000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:4245800-4252000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:4246000-4251800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:4246800-4257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:4248400-4251800	Enhancers	Fetal Thymus	thymus
11	chr12:4248400-4251800	Enhancers	GM12878-XiMat	blood
12	chr12:4248800-4251800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:4249000-4252000	Enhancers	Fetal Muscle Trunk	muscle
14	chr12:4249200-4251800	Enhancers	Fetal Stomach	stomach
15	chr12:4249200-4252000	Enhancers	Fetal Muscle Leg	muscle
16	chr12:4249600-4251800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:4249600-4251800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:4249600-4252200	Enhancers	Fetal Brain Male	brain
19	chr12:4249800-4251800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:4250400-4251800	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:4250400-4252000	Weak transcription	Right Ventricle	heart
22	chr12:4250400-4252000	Enhancers	K562	blood
23	chr12:4250600-4251800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:4250600-4251800	Enhancers	Duodenum Mucosa	Duodenum
25	chr12:4250600-4255400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:4250800-4251800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:4250800-4251800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr12:4250800-4251800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:4250800-4251800	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:4250800-4253200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:4250800-4253600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:4251000-4251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:4251000-4251800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:4251000-4251800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:4251000-4252000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:4251000-4252000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:4251000-4252000	Weak transcription	HepG2	liver
38	chr12:4251200-4251800	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr12:4251200-4251800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:4251400-4252600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:4251600-4251800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:4251600-4251800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:4251600-4251800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:4251600-4251800	Enhancers	Fetal Intestine Small	intestine
45	chr12:4251600-4251800	Enhancers	Fetal Lung	lung
46	chr12:4251600-4251800	Enhancers	Lung	lung
47	chr12:4251600-4251800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr12:4251600-4251800	Enhancers	Thymus	Thymus
49	chr12:4251600-4251800	Enhancers	Dnd41	blood
50	chr12:4251600-4251800	Enhancers	HMEC	breast

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