Variant report

Variant	rs4334109
Chromosome Location	chr12:50862721-50862722
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10083076	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10431531	1.00[EUR][1000 genomes]
rs10431532	1.00[EUR][1000 genomes]
rs10431533	1.00[EUR][1000 genomes]
rs10732734	1.00[EUR][1000 genomes]
rs10747576	1.00[EUR][1000 genomes]
rs10747582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10783355	1.00[EUR][1000 genomes]
rs10783360	1.00[EUR][1000 genomes]
rs10876029	1.00[EUR][1000 genomes]
rs10876040	1.00[EUR][1000 genomes]
rs11169464	1.00[EUR][1000 genomes]
rs12146806	1.00[EUR][1000 genomes]
rs12297832	1.00[MEX][hapmap]
rs12300290	1.00[EUR][1000 genomes]
rs12302812	1.00[EUR][1000 genomes]
rs12321891	1.00[EUR][1000 genomes]
rs12322925	1.00[EUR][1000 genomes]
rs12367373	0.87[MKK][hapmap];1.00[EUR][1000 genomes]
rs1464436	1.00[EUR][1000 genomes]
rs1879622	1.00[EUR][1000 genomes]
rs2037453	1.00[EUR][1000 genomes]
rs2253376	1.00[EUR][1000 genomes]
rs2464125	1.00[EUR][1000 genomes]
rs2468378	1.00[EUR][1000 genomes]
rs2684895	1.00[EUR][1000 genomes]
rs2684896	1.00[EUR][1000 genomes]
rs2684897	1.00[EUR][1000 genomes]
rs2684904	1.00[EUR][1000 genomes]
rs2684905	1.00[EUR][1000 genomes]
rs2684907	1.00[EUR][1000 genomes]
rs2684909	1.00[EUR][1000 genomes]
rs2700476	1.00[EUR][1000 genomes]
rs2700477	1.00[EUR][1000 genomes]
rs2700481	1.00[EUR][1000 genomes]
rs2700483	1.00[EUR][1000 genomes]
rs2731437	1.00[EUR][1000 genomes]
rs2731438	1.00[EUR][1000 genomes]
rs2731441	1.00[EUR][1000 genomes]
rs2731444	1.00[EUR][1000 genomes]
rs2731445	1.00[EUR][1000 genomes]
rs2731446	1.00[EUR][1000 genomes]
rs2731447	1.00[EUR][1000 genomes]
rs2731448	1.00[EUR][1000 genomes]
rs4238103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4259895	1.00[EUR][1000 genomes]
rs4293196	1.00[EUR][1000 genomes]
rs4435082	1.00[EUR][1000 genomes]
rs4477515	1.00[EUR][1000 genomes]
rs4491331	1.00[EUR][1000 genomes]
rs4590959	1.00[EUR][1000 genomes]
rs4617660	0.87[MKK][hapmap];1.00[EUR][1000 genomes]
rs4625558	1.00[EUR][1000 genomes]
rs4768854	1.00[EUR][1000 genomes]
rs4768896	1.00[EUR][1000 genomes]
rs4768897	1.00[EUR][1000 genomes]
rs4768898	1.00[EUR][1000 genomes]
rs4768916	1.00[EUR][1000 genomes]
rs6421169	1.00[EUR][1000 genomes]
rs6580746	1.00[EUR][1000 genomes]
rs6580749	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580750	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580758	1.00[EUR][1000 genomes]
rs6580759	1.00[EUR][1000 genomes]
rs7133107	1.00[EUR][1000 genomes]
rs7296277	1.00[EUR][1000 genomes]
rs7302222	1.00[EUR][1000 genomes]
rs7304951	1.00[EUR][1000 genomes]
rs7305972	1.00[EUR][1000 genomes]
rs7309410	1.00[EUR][1000 genomes]
rs7309896	1.00[EUR][1000 genomes]
rs7310522	1.00[EUR][1000 genomes]
rs7310686	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312349	1.00[EUR][1000 genomes]
rs7313783	1.00[EUR][1000 genomes]
rs7314198	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7954152	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7963866	1.00[EUR][1000 genomes]
rs7964439	1.00[EUR][1000 genomes]
rs7966009	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs939632	1.00[EUR][1000 genomes]
rs939634	1.00[EUR][1000 genomes]
rs9634263	1.00[EUR][1000 genomes]
rs9804978	1.00[EUR][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	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
3	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats 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 lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
2	chr12:50819200-50870800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:50819800-50867400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:50820000-50867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:50820200-50869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:50820200-50871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:50821600-50863400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:50821600-50871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:50821600-50872800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:50825800-50873000	Strong transcription	Liver	Liver
11	chr12:50827400-50870400	Weak transcription	Stomach Mucosa	stomach
12	chr12:50828000-50867200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:50831000-50874000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:50833400-50872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:50834200-50872400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:50836400-50866200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:50836600-50870000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:50836800-50867400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:50839000-50869800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:50844400-50872400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:50846200-50873000	Strong transcription	Adipose Nuclei	Adipose
22	chr12:50846800-50872000	Weak transcription	Fetal Heart	heart
23	chr12:50847000-50865400	Weak transcription	NHLF	lung
24	chr12:50849200-50878000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:50850000-50871600	Weak transcription	Small Intestine	intestine
26	chr12:50851200-50870800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:50851800-50872600	Strong transcription	Dnd41	blood
28	chr12:50852200-50871000	Strong transcription	Fetal Thymus	thymus
29	chr12:50852400-50866800	Weak transcription	NH-A	brain
30	chr12:50852400-50872200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:50852400-50872600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:50852600-50873000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:50853000-50870800	Strong transcription	Fetal Muscle Leg	muscle
34	chr12:50853000-50871400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:50853200-50867400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:50853800-50871400	Strong transcription	Osteobl	bone
37	chr12:50853800-50872600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:50854200-50862800	Strong transcription	Primary T cells from cord blood	blood
39	chr12:50854200-50873000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr12:50854800-50869800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:50855000-50870800	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:50856200-50863000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:50856200-50872200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:50856200-50872400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:50856400-50862800	Strong transcription	K562	blood
46	chr12:50856600-50863400	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr12:50857000-50866200	Weak transcription	HMEC	breast
48	chr12:50857600-50863800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:50857600-50872400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:50857800-50864200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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