Variant report

Variant	rs12712049
Chromosome Location	chr2:100208830-100208831
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	chr2:100201466..100205034-chr2:100205578..100208846,3	K562	blood:
2	chr2:100206800..100209717-chr2:100210170..100213701,3	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10167554	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11123790	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11684088	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12620982	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12712054	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13029690	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1357719	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1996984	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2030691	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2030692	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2030693	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2049400	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2177541	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2177542	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3792129	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3792130	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4850910	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4851220	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4851221	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6542884	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6738724	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6745568	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7579222	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9284724	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9308826	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9308827	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9678859	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12712049	UNC50	cis	parietal	SCAN
rs12712049	IL1RL1	cis	cerebellum	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100161800-100211200	Weak transcription	Fetal Kidney	kidney
2	chr2:100162800-100219200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr2:100172600-100209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:100184400-100211800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:100186800-100214600	Weak transcription	Fetal Intestine Small	intestine
6	chr2:100187800-100211600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:100188200-100210400	Weak transcription	Brain Substantia Nigra	brain
8	chr2:100190400-100218200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:100191400-100210800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:100191400-100215000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:100194800-100210400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:100198400-100214800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:100199400-100209800	Weak transcription	Fetal Stomach	stomach
14	chr2:100199400-100217800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:100200200-100213600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:100202600-100214000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:100203000-100216000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:100203200-100209400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:100203200-100215200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:100203200-100221400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:100203400-100221200	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:100203600-100209600	Weak transcription	Gastric	stomach
23	chr2:100203600-100213600	Weak transcription	NH-A	brain
24	chr2:100203800-100209400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:100203800-100209600	Weak transcription	Fetal Thymus	thymus
26	chr2:100203800-100210200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr2:100203800-100212400	Weak transcription	Fetal Brain Male	brain
28	chr2:100203800-100217200	Weak transcription	Liver	Liver
29	chr2:100204000-100209800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:100204000-100209800	Weak transcription	Spleen	Spleen
31	chr2:100204000-100210400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:100204000-100217400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:100204000-100218000	Weak transcription	Fetal Lung	lung
34	chr2:100204000-100221800	Weak transcription	Adipose Nuclei	Adipose
35	chr2:100204200-100209400	Weak transcription	Thymus	Thymus
36	chr2:100204200-100210400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:100204600-100209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:100205400-100212800	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:100205800-100209800	Weak transcription	Dnd41	blood
40	chr2:100206800-100209400	Weak transcription	Lung	lung
41	chr2:100207000-100209800	Weak transcription	Ovary	ovary
42	chr2:100207800-100219800	Strong transcription	Primary B cells from cord blood	blood
43	chr2:100208000-100209000	Strong transcription	Primary T cells from cord blood	blood
44	chr2:100208200-100210400	Strong transcription	Fetal Brain Female	brain
45	chr2:100208600-100209800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:100208600-100211000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:100208800-100210600	Strong transcription	Brain Germinal Matrix	brain
48	chr2:100208800-100213000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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