Variant report

Variant	rs1367384
Chromosome Location	chr2:10127862-10127863
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	chr2:10123969..10126357-chr2:10126821..10128999,2	MCF-7	breast:
2	chr2:10124646..10126167-chr2:10126263..10128790,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1001215	0.94[ASN][1000 genomes]
rs11893362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12472800	0.98[ASN][1000 genomes]
rs12475243	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12614084	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12616347	0.92[ASN][1000 genomes]
rs12618788	0.98[ASN][1000 genomes]
rs12623004	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1367383	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1367388	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1367389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1430621	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549752	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1549753	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549754	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1820964	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1835424	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1897165	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2011516	0.80[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2011523	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2033326	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2303920	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444564	0.98[ASN][1000 genomes]
rs34950562	0.99[ASN][1000 genomes]
rs35341467	0.99[ASN][1000 genomes]
rs35646916	0.96[ASN][1000 genomes]
rs36033432	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3791753	0.96[ASN][1000 genomes]
rs3791758	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3791760	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4610026	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6432047	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6432048	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6714600	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743918	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731453	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7596288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs891500	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
2	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:10104600-10130200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:10113400-10130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:10113400-10136800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:10113400-10141200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:10115000-10148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:10120400-10131800	Weak transcription	Dnd41	blood
10	chr2:10121200-10128000	Weak transcription	Fetal Brain Male	brain
11	chr2:10124000-10136400	Weak transcription	Hela-S3	cervix
12	chr2:10124400-10139200	Weak transcription	Gastric	stomach
13	chr2:10124600-10128800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:10124800-10130600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:10124800-10131800	Weak transcription	Fetal Kidney	kidney
16	chr2:10124800-10143200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:10124800-10149400	Weak transcription	Brain Anterior Caudate	brain
18	chr2:10125000-10128000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:10125000-10130800	Weak transcription	Left Ventricle	heart
20	chr2:10125000-10132600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:10125000-10134200	Weak transcription	Right Ventricle	heart
22	chr2:10125000-10140600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:10125000-10147600	Weak transcription	K562	blood
24	chr2:10125000-10149400	Weak transcription	Psoas Muscle	Psoas
25	chr2:10125200-10130800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:10125200-10134000	Weak transcription	Stomach Mucosa	stomach
27	chr2:10125200-10139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:10125200-10139200	Weak transcription	Pancreas	Pancrea
29	chr2:10125200-10150000	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:10125400-10131400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:10125600-10129000	Weak transcription	NHEK	skin
32	chr2:10125600-10131800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:10125800-10130800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:10125800-10130800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:10125800-10130800	Weak transcription	Fetal Intestine Large	intestine
36	chr2:10125800-10132200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:10126000-10130600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:10126000-10130800	Weak transcription	HSMM	muscle
39	chr2:10126000-10130800	Weak transcription	Osteobl	bone
40	chr2:10126000-10132400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:10126000-10144000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr2:10126200-10128400	Genic enhancers	Placenta	Placenta
43	chr2:10126200-10128800	Strong transcription	Esophagus	oesophagus
44	chr2:10126200-10130800	Weak transcription	NHDF-Ad	bronchial
45	chr2:10126200-10132000	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:10126200-10133400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:10126200-10139200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:10126400-10130800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:10126400-10130800	Weak transcription	Adipose Nuclei	Adipose
50	chr2:10126400-10133400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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