Variant report

Variant	rs7969138
Chromosome Location	chr12:122465184-122465185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122235746..122237932-chr12:122463152..122466660,3	K562	blood:
2	chr12:122356506..122358944-chr12:122464672..122467378,2	MCF-7	breast:
3	chr12:122463183..122465209-chr12:122611516..122613491,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175727	Chromatin interaction

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

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

rs_ID	r²[population]
rs10840639	0.89[ASN][1000 genomes]
rs10840640	0.87[ASN][1000 genomes]
rs10840641	0.99[ASN][1000 genomes]
rs11043281	0.87[ASN][1000 genomes]
rs11043287	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11043294	0.84[ASN][1000 genomes]
rs12230841	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12231594	0.89[ASN][1000 genomes]
rs12830351	0.84[ASN][1000 genomes]
rs2177330	0.82[ASN][1000 genomes]
rs3741582	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7294458	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7298520	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7298990	0.86[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122461600-122466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:122461600-122467200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:122461600-122492400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:122461800-122465800	Weak transcription	Esophagus	oesophagus
5	chr12:122461800-122473200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:122461800-122476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:122462000-122473200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:122462000-122473400	Weak transcription	Primary T cells from cord blood	blood
9	chr12:122462000-122492400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:122462200-122465800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:122462200-122465800	Weak transcription	Psoas Muscle	Psoas
12	chr12:122462200-122466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:122462200-122466200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:122462200-122466200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:122462200-122466800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:122462200-122469200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:122462200-122469600	Weak transcription	Gastric	stomach
18	chr12:122462200-122472800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:122462200-122473000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:122462200-122473200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:122462200-122473400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:122462200-122474200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:122462200-122489000	Weak transcription	HUVEC	blood vessel
24	chr12:122462400-122465800	Weak transcription	Adipose Nuclei	Adipose
25	chr12:122462400-122465800	Weak transcription	Brain Angular Gyrus	brain
26	chr12:122462400-122465800	Weak transcription	Brain Anterior Caudate	brain
27	chr12:122462400-122465800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:122462400-122465800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:122462400-122465800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:122462400-122466000	Weak transcription	Osteobl	bone
31	chr12:122462400-122466200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:122462400-122466400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:122462400-122466600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:122462400-122466600	Weak transcription	Spleen	Spleen
35	chr12:122462400-122467400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:122462400-122467600	Weak transcription	Ovary	ovary
37	chr12:122462400-122467800	Weak transcription	NHDF-Ad	bronchial
38	chr12:122462400-122468000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:122462400-122469400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:122462400-122470000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:122462400-122473200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:122462400-122473200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:122462400-122473200	Weak transcription	Aorta	Aorta
44	chr12:122462400-122473200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:122462400-122477800	Weak transcription	Fetal Kidney	kidney
46	chr12:122462400-122481800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:122462400-122489000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:122462400-122490400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:122462400-122492200	Weak transcription	Stomach Mucosa	stomach
50	chr12:122462400-122500000	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links