Variant report

Variant	rs1110123
Chromosome Location	chr12:122467216-122467217
allele	C/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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122466594..122469077-chr12:122514843..122517151,2	MCF-7	breast:
2	chr12:122419365..122421513-chr12:122466163..122468621,2	K562	blood:
3	chr12:122465918..122468766-chr12:122476959..122479262,2	K562	blood:
4	chr12:122239067..122243292-chr12:122466352..122470138,4	MCF-7	breast:
5	chr12:122466217..122468196-chr12:122682024..122683556,2	K562	blood:
6	chr12:122356506..122358944-chr12:122464672..122467378,2	MCF-7	breast:
7	chr12:122390662..122395297-chr12:122466472..122469968,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000175727	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1177573	1.00[MEX][hapmap]
rs11829393	1.00[GIH][hapmap]
rs11830915	1.00[GIH][hapmap]
rs11832557	1.00[GIH][hapmap]
rs7296744	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs884785	0.83[ASW][hapmap]

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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122461600-122492400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:122461800-122473200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:122461800-122476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:122462000-122473200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:122462000-122473400	Weak transcription	Primary T cells from cord blood	blood
6	chr12:122462000-122492400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:122462200-122469200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:122462200-122469600	Weak transcription	Gastric	stomach
9	chr12:122462200-122472800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:122462200-122473000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:122462200-122473200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:122462200-122473400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:122462200-122474200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:122462200-122489000	Weak transcription	HUVEC	blood vessel
15	chr12:122462400-122467400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:122462400-122467600	Weak transcription	Ovary	ovary
17	chr12:122462400-122467800	Weak transcription	NHDF-Ad	bronchial
18	chr12:122462400-122468000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:122462400-122469400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:122462400-122470000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:122462400-122473200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:122462400-122473200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:122462400-122473200	Weak transcription	Aorta	Aorta
24	chr12:122462400-122473200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:122462400-122477800	Weak transcription	Fetal Kidney	kidney
26	chr12:122462400-122481800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:122462400-122489000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:122462400-122490400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:122462400-122492200	Weak transcription	Stomach Mucosa	stomach
30	chr12:122462400-122500000	Weak transcription	Hela-S3	cervix
31	chr12:122462600-122467400	Weak transcription	Fetal Intestine Large	intestine
32	chr12:122462600-122468000	Genic enhancers	Fetal Thymus	thymus
33	chr12:122462600-122468400	Weak transcription	Fetal Stomach	stomach
34	chr12:122462600-122468600	Enhancers	Primary B cells from peripheral blood	blood
35	chr12:122462600-122478000	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:122462800-122473000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:122463200-122470000	Enhancers	Primary B cells from cord blood	blood
38	chr12:122464200-122468600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr12:122464200-122469000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:122464400-122468000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:122464400-122470600	Enhancers	Pancreas	Pancrea
42	chr12:122464600-122467800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:122464800-122468000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:122465000-122467800	Enhancers	Fetal Muscle Trunk	muscle
45	chr12:122465200-122467600	Enhancers	Thymus	Thymus
46	chr12:122465200-122467800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:122465200-122467800	Weak transcription	Fetal Intestine Small	intestine
48	chr12:122465200-122473200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:122465600-122467400	Enhancers	Primary hematopoietic stem cells	blood
50	chr12:122465600-122468000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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