Variant report

Variant	rs759310
Chromosome Location	chr12:4246251-4246252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4244497..4246706-chr12:4251170..4253999,2	K562	blood:
2	chr12:4244218..4247672-chr12:4248422..4253383,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10459129	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10744631	0.86[EUR][1000 genomes]
rs10774198	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10848986	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10848988	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11063011	0.87[EUR][1000 genomes]
rs11063012	0.85[EUR][1000 genomes]
rs11063013	0.85[EUR][1000 genomes]
rs1861175	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1978311	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6489519	0.87[EUR][1000 genomes]
rs7136346	0.92[ASN][1000 genomes]
rs7137733	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7298905	0.83[EUR][1000 genomes]
rs7304518	0.95[EUR][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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4227200-4252000	Weak transcription	Pancreas	Pancrea
2	chr12:4241000-4248400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:4241800-4247200	Enhancers	Fetal Muscle Leg	muscle
4	chr12:4242000-4247200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:4242200-4246600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:4242200-4246800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:4242200-4247000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:4242200-4247200	Enhancers	Fetal Muscle Trunk	muscle
9	chr12:4242600-4246600	Enhancers	Fetal Stomach	stomach
10	chr12:4242800-4247000	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:4243000-4246600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:4243200-4246600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:4243200-4247000	Enhancers	Fetal Thymus	thymus
14	chr12:4243200-4247200	Enhancers	Primary B cells from cord blood	blood
15	chr12:4243200-4250600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:4243400-4246800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:4243600-4255200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:4244200-4246600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr12:4244400-4246600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:4244400-4246600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr12:4244400-4246800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:4244400-4248600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:4244400-4249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:4244600-4246400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr12:4244600-4246800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:4244600-4247000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:4244800-4246400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:4244800-4246800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:4244800-4253200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:4245000-4246800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:4245200-4246400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:4245200-4246600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr12:4245200-4246800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:4245200-4246800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:4245200-4246800	Enhancers	Primary hematopoietic stem cells	blood
36	chr12:4245200-4247000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:4245200-4249600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:4245200-4251800	Weak transcription	Fetal Intestine Large	intestine
39	chr12:4245400-4246600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:4245400-4246600	Flanking Active TSS	GM12878-XiMat	blood
41	chr12:4245400-4246800	Enhancers	Brain Germinal Matrix	brain
42	chr12:4245400-4246800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr12:4245600-4246800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr12:4245600-4246800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:4245600-4251600	Weak transcription	NHEK	skin
46	chr12:4245800-4246800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:4245800-4246800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:4245800-4248400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:4245800-4248600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:4245800-4248600	Weak transcription	Thymus	Thymus

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