Variant report

Variant	rs34395322
Chromosome Location	chr12:122513708-122513709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122513673-122513824	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122513440..122515141-chr12:122630792..122633616,2	K562	blood:
2	chr12:122508765..122512478-chr12:122512522..122516495,6	MCF-7	breast:
3	chr12:122499264..122502841-chr12:122510624..122513814,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MLXIP-1	chr12:122512858-122514686	ENSG00000251645
2	lnc-MLXIP-1	chr12:122513147-122515640	NONHSAT031490

No data

Variant related genes	Relation type
MLXIP	TF binding region
ENSG00000256546	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11043217	1.00[ASN][1000 genomes]
rs11043220	1.00[ASN][1000 genomes]
rs11043223	1.00[ASN][1000 genomes]
rs61952926	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66611928	1.00[ASN][1000 genomes]
rs7957117	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr12:122502600-122516200	Weak transcription	Gastric	stomach
2	chr12:122503400-122514800	Weak transcription	Fetal Intestine Large	intestine
3	chr12:122503400-122516000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:122503400-122516000	Weak transcription	Esophagus	oesophagus
5	chr12:122503600-122515800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:122506400-122515000	Weak transcription	Lung	lung
7	chr12:122506400-122516000	Weak transcription	Small Intestine	intestine
8	chr12:122506600-122514800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:122506600-122515800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:122507400-122515400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:122508400-122515600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122510600-122514400	Weak transcription	Colonic Mucosa	Colon
13	chr12:122510600-122514600	Weak transcription	Fetal Intestine Small	intestine
14	chr12:122510600-122514800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:122510600-122515000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:122510600-122515200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:122510600-122515200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:122510600-122515200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:122510600-122515200	Weak transcription	Psoas Muscle	Psoas
20	chr12:122510600-122515800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:122510600-122516000	Weak transcription	Placenta	Placenta
22	chr12:122510600-122516000	Weak transcription	Left Ventricle	heart
23	chr12:122510800-122515000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:122510800-122515000	Weak transcription	Pancreas	Pancrea
25	chr12:122510800-122515000	Weak transcription	Stomach Mucosa	stomach
26	chr12:122510800-122515200	Weak transcription	Adipose Nuclei	Adipose
27	chr12:122510800-122515200	Weak transcription	Fetal Lung	lung
28	chr12:122510800-122515200	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:122510800-122515400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:122510800-122515400	Weak transcription	HSMMtube	muscle
31	chr12:122510800-122515600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:122510800-122515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:122510800-122515600	Weak transcription	Right Atrium	heart
34	chr12:122510800-122515600	Weak transcription	NHDF-Ad	bronchial
35	chr12:122510800-122515800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:122510800-122515800	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:122510800-122515800	Weak transcription	Brain Substantia Nigra	brain
38	chr12:122510800-122516000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:122511000-122514800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:122511000-122514800	Weak transcription	HepG2	liver
41	chr12:122511000-122515600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:122511000-122515600	Weak transcription	HSMM	muscle
43	chr12:122511000-122515800	Weak transcription	Fetal Heart	heart
44	chr12:122511000-122515800	Weak transcription	HUVEC	blood vessel
45	chr12:122511000-122515800	Weak transcription	NHEK	skin
46	chr12:122511000-122515800	Weak transcription	Osteobl	bone
47	chr12:122511000-122516000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:122511200-122514600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:122511200-122514800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:122511200-122514800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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