Variant report

Variant	rs7968154
Chromosome Location	chr12:105543641-105543642
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	chr12:105500409..105502947-chr12:105543517..105545714,2	MCF-7	breast:
2	chr12:105542946..105545712-chr12:105628511..105631314,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257999	Chromatin interaction
ENSG00000235162	Chromatin interaction
ENSG00000136051	Chromatin interaction
ENSG00000136044	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1044607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036655	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036660	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036668	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17036687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036722	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4394911	0.93[AFR][1000 genomes]
rs58431410	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58670310	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59586998	0.95[AFR][1000 genomes]
rs59618886	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60732733	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60887341	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60985863	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	esv1826054	chr12:105505809-105568176	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1049296	chr12:105518764-105566079	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105503800-105544200	Weak transcription	Aorta	Aorta
2	chr12:105505200-105559800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:105505200-105564000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:105505200-105567400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:105505200-105573000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:105505600-105550000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr12:105505600-105573200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:105505800-105571400	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr12:105506400-105544600	Strong transcription	NHDF-Ad	bronchial
10	chr12:105506400-105573000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:105506600-105549200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:105506800-105568800	Strong transcription	Dnd41	blood
13	chr12:105506800-105572400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:105507000-105573200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:105507200-105571400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr12:105507400-105565600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr12:105507600-105571400	Strong transcription	HUVEC	blood vessel
18	chr12:105507600-105572800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:105507800-105563800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:105507800-105573200	Strong transcription	Placenta	Placenta
21	chr12:105508000-105549200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:105508000-105550400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:105508000-105565400	Strong transcription	Adipose Nuclei	Adipose
24	chr12:105508200-105572800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:105508400-105562000	Strong transcription	Primary B cells from cord blood	blood
26	chr12:105508600-105573000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:105508800-105565000	Strong transcription	Liver	Liver
28	chr12:105510000-105565200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:105513800-105567800	Weak transcription	Pancreas	Pancrea
30	chr12:105515200-105557600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:105517800-105555200	Weak transcription	Small Intestine	intestine
32	chr12:105518600-105573200	Strong transcription	HSMM	muscle
33	chr12:105519400-105558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:105520000-105550000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:105522600-105557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:105522600-105586000	Weak transcription	Stomach Mucosa	stomach
37	chr12:105522800-105548200	Weak transcription	Brain Angular Gyrus	brain
38	chr12:105524600-105578200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:105525400-105546800	Weak transcription	Colonic Mucosa	Colon
40	chr12:105525400-105583200	Weak transcription	Fetal Heart	heart
41	chr12:105525600-105549000	Weak transcription	Right Ventricle	heart
42	chr12:105526200-105544200	Weak transcription	Lung	lung
43	chr12:105527000-105544200	Weak transcription	Fetal Intestine Small	intestine
44	chr12:105527000-105544200	Weak transcription	Fetal Stomach	stomach
45	chr12:105527000-105544200	Weak transcription	Spleen	Spleen
46	chr12:105527200-105565400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:105528800-105549800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:105529600-105543800	Weak transcription	Fetal Brain Male	brain
49	chr12:105529800-105549200	Strong transcription	NH-A	brain
50	chr12:105529800-105571400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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