Variant report

Variant	rs12329307
Chromosome Location	chr2:39213730-39213731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10166557	1.00[EUR][1000 genomes]
rs10173380	1.00[EUR][1000 genomes]
rs10173563	1.00[EUR][1000 genomes]
rs10184046	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10184855	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10186842	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10188701	1.00[EUR][1000 genomes]
rs10189440	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10194533	1.00[EUR][1000 genomes]
rs10196863	1.00[EUR][1000 genomes]
rs10199955	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10202876	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10203565	1.00[EUR][1000 genomes]
rs10207187	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10207984	1.00[EUR][1000 genomes]
rs10495882	1.00[EUR][1000 genomes]
rs13387231	1.00[EUR][1000 genomes]
rs13394446	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13395448	1.00[EUR][1000 genomes]
rs13407659	1.00[EUR][1000 genomes]
rs13411756	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13416725	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13424493	1.00[EUR][1000 genomes]
rs13425165	1.00[EUR][1000 genomes]
rs13428418	1.00[EUR][1000 genomes]
rs13432395	1.00[EUR][1000 genomes]
rs1451278	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023148	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023149	1.00[CEU][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023214	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023241	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023292	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17425982	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1901290	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2218850	1.00[EUR][1000 genomes]
rs2373466	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2373472	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3099938	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3099947	1.00[CEU][hapmap]
rs3099953	1.00[EUR][1000 genomes]
rs3099973	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3099986	1.00[EUR][1000 genomes]
rs3099996	1.00[EUR][1000 genomes]
rs3099997	1.00[EUR][1000 genomes]
rs3112145	1.00[EUR][1000 genomes]
rs3112146	1.00[EUR][1000 genomes]
rs3112148	1.00[EUR][1000 genomes]
rs3112155	1.00[EUR][1000 genomes]
rs3112157	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3112158	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3112160	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3112164	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3112174	1.00[EUR][1000 genomes]
rs3112176	1.00[CEU][hapmap]
rs3112177	1.00[EUR][1000 genomes]
rs55890805	1.00[EUR][1000 genomes]
rs56269328	1.00[EUR][1000 genomes]
rs56724744	1.00[EUR][1000 genomes]
rs57359008	1.00[EUR][1000 genomes]
rs59259697	1.00[EUR][1000 genomes]
rs60703378	1.00[EUR][1000 genomes]
rs61596046	1.00[EUR][1000 genomes]
rs6544200	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6734212	1.00[EUR][1000 genomes]
rs6737680	1.00[EUR][1000 genomes]
rs6751306	1.00[EUR][1000 genomes]
rs6753426	1.00[EUR][1000 genomes]
rs6754613	1.00[EUR][1000 genomes]
rs718312	1.00[EUR][1000 genomes]
rs72906436	1.00[EUR][1000 genomes]
rs72906467	1.00[EUR][1000 genomes]
rs72916836	1.00[EUR][1000 genomes]
rs72916860	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918710	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72925431	1.00[EUR][1000 genomes]
rs72925433	1.00[EUR][1000 genomes]
rs72925439	1.00[EUR][1000 genomes]
rs7340303	1.00[EUR][1000 genomes]
rs73930506	1.00[EUR][1000 genomes]
rs7559586	1.00[EUR][1000 genomes]
rs7564481	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7565814	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7571608	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7571719	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7574214	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7582586	1.00[EUR][1000 genomes]
rs7583010	1.00[CEU][hapmap]
rs7589303	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7599990	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9646968	1.00[EUR][1000 genomes]
rs9678084	1.00[CEU][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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr2:39188000-39222400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:39194400-39218600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:39197000-39225800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:39199600-39220000	Weak transcription	Brain Germinal Matrix	brain
5	chr2:39200800-39227800	Weak transcription	Fetal Heart	heart
6	chr2:39201800-39218600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:39202000-39218800	Weak transcription	Brain Substantia Nigra	brain
8	chr2:39202000-39221800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:39202400-39225600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:39202400-39228800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:39202800-39217000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:39205800-39242600	Weak transcription	Psoas Muscle	Psoas
13	chr2:39206000-39235800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:39207600-39224400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:39209200-39222400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:39209200-39224000	Strong transcription	Placenta	Placenta
17	chr2:39209800-39224400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:39210000-39232000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:39210200-39215400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:39210200-39216600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:39210400-39216800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:39210400-39224800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:39210400-39233200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr2:39210400-39241600	Strong transcription	Adipose Nuclei	Adipose
25	chr2:39210400-39242600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:39210600-39214800	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:39210600-39215400	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr2:39210600-39229400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:39210600-39242400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:39210800-39213800	Strong transcription	Brain Hippocampus Middle	brain
31	chr2:39210800-39214600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:39210800-39215000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:39210800-39215600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:39210800-39218600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:39210800-39219200	Strong transcription	Fetal Thymus	thymus
36	chr2:39210800-39224800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr2:39210800-39230200	Strong transcription	Dnd41	blood
38	chr2:39211000-39213800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr2:39211000-39214800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:39211000-39247600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:39211200-39214800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:39211200-39215000	Strong transcription	Primary B cells from cord blood	blood
43	chr2:39211200-39215400	Strong transcription	Liver	Liver
44	chr2:39211200-39224800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr2:39211200-39228600	Strong transcription	HepG2	liver
46	chr2:39211400-39214800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:39211400-39215000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:39211400-39215000	Strong transcription	Osteobl	bone
49	chr2:39211400-39221200	Weak transcription	NHDF-Ad	bronchial
50	chr2:39211400-39237800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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