Variant report

Variant	rs67136007
Chromosome Location	chr12:46381583-46381584
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46381030..46386260-chr12:46762457..46768592,6	K562	blood:
2	chr12:46381426..46387093-chr12:46763754..46767064,8	MCF-7	breast:
3	chr12:46344593..46346817-chr12:46380170..46382084,2	MCF-7	breast:
4	chr12:46234148..46236211-chr12:46380444..46382756,2	MCF-7	breast:
5	chr12:46117578..46127110-chr12:46379884..46387671,22	K562	blood:
6	chr12:46119117..46128831-chr12:46378175..46388065,20	MCF-7	breast:
7	chr12:46381552..46382503-chr12:46595173..46595922,2	MCF-7	breast:
8	chr12:46173636..46175276-chr12:46381483..46383526,2	K562	blood:
9	chr12:46121142..46128895-chr12:46378215..46381675,6	K562	blood:
10	chr12:46014914..46017037-chr12:46380285..46382180,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189079	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000273015	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10161306	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1062905	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10880867	0.87[ASN][1000 genomes]
rs10880873	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10880874	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10880883	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183223	0.83[ASN][1000 genomes]
rs11183226	0.86[ASN][1000 genomes]
rs11183228	0.86[ASN][1000 genomes]
rs11183229	0.85[ASN][1000 genomes]
rs11183234	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11183251	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11183273	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183275	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11574964	0.92[ASN][1000 genomes]
rs12315290	0.80[EUR][1000 genomes]
rs12318248	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1427750	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17096308	0.90[ASN][1000 genomes]
rs17096361	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1896539	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4144983	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768099	0.92[ASN][1000 genomes]
rs4768100	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4768670	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4768672	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768673	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768674	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4768675	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56146240	0.88[ASN][1000 genomes]
rs61924070	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs735351	0.80[AMR][1000 genomes];0.97[ASN][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	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv983463	chr12:46377328-46403983	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46360600-46381800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:46360600-46383000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:46361400-46383200	Weak transcription	Lung	lung
4	chr12:46362800-46383400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:46363600-46381800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:46367400-46383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:46370800-46382800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:46372400-46383000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:46373000-46383400	Weak transcription	Esophagus	oesophagus
10	chr12:46373200-46382800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:46374200-46383000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr12:46378200-46381600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:46378400-46382800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:46378400-46383000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:46378600-46382400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr12:46378600-46382600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:46379000-46381800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr12:46379000-46382400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:46379400-46383000	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:46379600-46381600	Genic enhancers	K562	blood
21	chr12:46379600-46383000	Enhancers	Colon Smooth Muscle	Colon
22	chr12:46379800-46381800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr12:46379800-46381800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:46380000-46382200	Enhancers	Liver	Liver
25	chr12:46380000-46382200	Enhancers	Brain Angular Gyrus	brain
26	chr12:46380000-46382600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr12:46380000-46383400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr12:46380200-46381600	Genic enhancers	A549	lung
29	chr12:46380200-46381800	Enhancers	NHLF	lung
30	chr12:46380200-46382200	Enhancers	Thymus	Thymus
31	chr12:46380400-46383000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:46380600-46381600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:46380600-46381600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr12:46380600-46381600	Enhancers	Spleen	Spleen
35	chr12:46380600-46381800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:46380600-46382200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:46380600-46382800	Enhancers	Rectal Smooth Muscle	rectum
38	chr12:46380600-46383000	Enhancers	Brain Anterior Caudate	brain
39	chr12:46380600-46383000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr12:46380600-46383200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr12:46380600-46383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:46380800-46381600	Enhancers	Ovary	ovary
43	chr12:46380800-46381600	Enhancers	Small Intestine	intestine
44	chr12:46380800-46382400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:46380800-46386400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:46381000-46381600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr12:46381000-46381600	Genic enhancers	Fetal Intestine Large	intestine
48	chr12:46381000-46381800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:46381000-46381800	Genic enhancers	NHDF-Ad	bronchial
50	chr12:46381000-46381800	Enhancers	Osteobl	bone

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