Variant report

Variant	rs12139683
Chromosome Location	chr1:84651630-84651631
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12128677	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12129768	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12134236	1.00[AFR][1000 genomes]
rs12144770	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17535312	1.00[ASN][1000 genomes]
rs2684910	1.00[ASN][1000 genomes]
rs6661411	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv871731	chr1:84597396-84658591	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871656	chr1:84601048-84693671	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997601	chr1:84609346-84672859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1005225	chr1:84609871-84667950	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1002537	chr1:84611207-84658450	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv999772	chr1:84611207-84667218	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1013911	chr1:84619164-84667950	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv871375	chr1:84622793-84678418	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv871643	chr1:84628655-84705481	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv871538	chr1:84633116-84717983	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv1011105	chr1:84638386-84674276	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1837139	chr1:84649799-84670584	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84624000-84651800	Weak transcription	Thymus	Thymus
2	chr1:84629200-84654000	Weak transcription	Spleen	Spleen
3	chr1:84634800-84651800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:84635000-84656400	Weak transcription	Fetal Heart	heart
5	chr1:84636400-84652400	Weak transcription	Fetal Brain Female	brain
6	chr1:84640000-84651800	Weak transcription	Pancreas	Pancrea
7	chr1:84640000-84656600	Weak transcription	Left Ventricle	heart
8	chr1:84640000-84658800	Weak transcription	Fetal Brain Male	brain
9	chr1:84640200-84654800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:84640200-84655200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:84640200-84656400	Weak transcription	HSMMtube	muscle
12	chr1:84640200-84658600	Weak transcription	Osteobl	bone
13	chr1:84640400-84651800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:84640400-84651800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:84640400-84653400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:84640400-84654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:84640400-84655800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:84640400-84656600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:84640400-84658200	Weak transcription	NHDF-Ad	bronchial
20	chr1:84640400-84658400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:84640400-84665000	Weak transcription	NH-A	brain
22	chr1:84640600-84654600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:84641200-84656200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:84641200-84658600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:84642000-84652000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:84642800-84651800	Weak transcription	Aorta	Aorta
27	chr1:84643000-84654400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:84643200-84656400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:84643400-84656600	Weak transcription	Brain Angular Gyrus	brain
30	chr1:84643400-84656600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:84644000-84656400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:84644400-84658800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:84646400-84662600	Weak transcription	Colonic Mucosa	Colon
34	chr1:84646600-84651800	Weak transcription	Adipose Nuclei	Adipose
35	chr1:84646600-84651800	Weak transcription	Liver	Liver
36	chr1:84646800-84653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:84646800-84654800	Weak transcription	Fetal Lung	lung
38	chr1:84647000-84652000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:84647000-84652400	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:84647000-84654800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:84647000-84656400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:84647000-84656600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:84647200-84651800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:84647200-84656800	Weak transcription	Brain Anterior Caudate	brain
45	chr1:84647400-84654000	Strong transcription	Dnd41	blood
46	chr1:84647400-84654800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:84647400-84658800	Strong transcription	Fetal Thymus	thymus
48	chr1:84648000-84651800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:84648200-84653600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:84648200-84655000	Strong transcription	Primary T cells fromperipheralblood	blood

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