Variant report

Variant	rs641614
Chromosome Location	chr12:63192419-63192420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62977312..62980304-chr12:63191073..63192843,2	K562	blood:
2	chr12:62993432..63001334-chr12:63185505..63196473,30	MCF-7	breast:
3	chr12:62831657..62832888-chr12:63192399..63193280,4	MCF-7	breast:
4	chr12:62996654..62999320-chr12:63190333..63195111,6	MCF-7	breast:
5	chr12:63191798..63194501-chr12:63197059..63199870,2	MCF-7	breast:
6	chr12:63191292..63194006-chr12:63325673..63328031,2	MCF-7	breast:
7	chr12:62976141..62978967-chr12:63191225..63193730,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199179	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000111110	Chromatin interaction
ENSG00000257354	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2641553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652024	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663954	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704760	0.82[MKK][hapmap]
rs475514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535206	0.81[LWK][hapmap]
rs641562	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670073	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302870	0.85[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs641614	MON2	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63175200-63193600	Weak transcription	Gastric	stomach
2	chr12:63175200-63206800	Weak transcription	Pancreas	Pancrea
3	chr12:63180400-63199000	Weak transcription	Aorta	Aorta
4	chr12:63181200-63197800	Weak transcription	Spleen	Spleen
5	chr12:63181200-63198200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:63181200-63200400	Weak transcription	Lung	lung
7	chr12:63181600-63194600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:63182000-63193800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:63182400-63192600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:63182600-63195200	Weak transcription	Fetal Stomach	stomach
11	chr12:63184000-63194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:63186400-63195200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:63186400-63198000	Weak transcription	Ovary	ovary
14	chr12:63187200-63194600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:63187600-63192600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:63187600-63193600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:63187800-63194600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:63187800-63196800	Weak transcription	Brain Angular Gyrus	brain
19	chr12:63187800-63205200	Weak transcription	K562	blood
20	chr12:63187800-63206400	Weak transcription	Osteobl	bone
21	chr12:63187800-63206800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:63187800-63211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:63188000-63193200	Weak transcription	Stomach Mucosa	stomach
24	chr12:63188000-63194600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:63188000-63194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:63188000-63194600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:63188000-63194800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:63188000-63198800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:63188000-63206800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:63188400-63192600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:63188400-63192600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:63188400-63192600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:63188400-63192600	Weak transcription	Dnd41	blood
34	chr12:63188400-63194600	Weak transcription	NHDF-Ad	bronchial
35	chr12:63188600-63192600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:63188600-63192600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:63188600-63194600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:63188600-63197000	Weak transcription	Brain Substantia Nigra	brain
39	chr12:63188600-63197600	Weak transcription	Liver	Liver
40	chr12:63188800-63192600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:63188800-63194600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:63189000-63193200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:63190000-63196400	Strong transcription	HepG2	liver
44	chr12:63190600-63193600	Weak transcription	Fetal Intestine Small	intestine
45	chr12:63191000-63193000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:63191600-63195200	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:63191800-63195200	Weak transcription	Fetal Intestine Large	intestine
48	chr12:63192000-63195400	Weak transcription	Right Ventricle	heart
49	chr12:63192200-63192600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:63192200-63192800	Enhancers	H1 Cell Line	embryonic stem cell

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