Variant report

Variant	rs12636607
Chromosome Location	chr3:113134644-113134645
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10934231	0.84[AMR][1000 genomes]
rs11923005	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12233528	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12635786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1353903	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs1392284	0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1463640	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs2129433	0.86[ASN][1000 genomes]
rs2171293	0.81[CHB][hapmap]
rs2291413	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3732806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4682134	0.81[ASN][1000 genomes]
rs4682136	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4682138	0.86[CHB][hapmap]
rs55710804	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs56339567	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs60329418	0.84[AMR][1000 genomes]
rs6438143	0.82[CHB][hapmap]
rs6438144	0.86[CHB][hapmap]
rs6438147	0.83[CHB][hapmap]
rs6768117	0.86[CHB][hapmap]
rs6779002	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6779305	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73237136	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73237142	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73237146	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73239111	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73239117	0.84[AMR][1000 genomes]
rs73239120	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73239121	0.84[AMR][1000 genomes]
rs7623122	0.86[CHB][hapmap]
rs7625933	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7630301	0.81[ASN][1000 genomes]
rs7638599	0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs9857471	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs9869141	0.86[CHB][hapmap]
rs9872143	0.83[ASN][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113074400-113184400	Weak transcription	Hela-S3	cervix
2	chr3:113080800-113143800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:113093600-113134800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr3:113098800-113134800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr3:113099000-113134800	Weak transcription	A549	lung
6	chr3:113099600-113144800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:113102200-113148800	Weak transcription	Brain Angular Gyrus	brain
8	chr3:113102400-113144400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:113106800-113143600	Weak transcription	Dnd41	blood
10	chr3:113107000-113137000	Weak transcription	Esophagus	oesophagus
11	chr3:113107200-113145200	Weak transcription	Aorta	Aorta
12	chr3:113107600-113138200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:113109200-113159800	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:113111600-113146400	Weak transcription	Brain Substantia Nigra	brain
15	chr3:113112200-113148400	Weak transcription	Brain Anterior Caudate	brain
16	chr3:113113000-113145600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:113114000-113143800	Weak transcription	Fetal Thymus	thymus
18	chr3:113117600-113148400	Weak transcription	Placenta	Placenta
19	chr3:113118000-113134800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:113119600-113145200	Weak transcription	Lung	lung
21	chr3:113122400-113138400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:113122400-113144800	Weak transcription	Pancreas	Pancrea
23	chr3:113122800-113138000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:113122800-113138600	Weak transcription	Primary B cells from cord blood	blood
25	chr3:113122800-113144000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr3:113122800-113144000	Weak transcription	Thymus	Thymus
27	chr3:113122800-113144800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:113123000-113134800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:113123000-113143600	Weak transcription	Left Ventricle	heart
30	chr3:113123000-113144400	Weak transcription	HSMM	muscle
31	chr3:113123200-113143800	Weak transcription	Ovary	ovary
32	chr3:113123600-113143200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:113123800-113134800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr3:113124600-113143600	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:113125000-113138000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:113129000-113142600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:113132600-113146400	Weak transcription	Right Ventricle	heart
38	chr3:113132800-113137800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr3:113133200-113147800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:113133400-113138600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr3:113133400-113144600	Weak transcription	NH-A	brain
42	chr3:113133600-113135400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:113133600-113135400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:113133800-113135200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:113133800-113135400	Strong transcription	Liver	Liver
46	chr3:113134000-113134800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:113134000-113134800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:113134000-113135400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:113134000-113138600	Weak transcription	GM12878-XiMat	blood
50	chr3:113134000-113144000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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