Variant report

Variant	rs2137422
Chromosome Location	chr10:5883165-5883166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5853267..5855548-chr10:5881785..5884894,3	MCF-7	breast:
2	chr10:5857495..5859789-chr10:5881654..5883847,2	K562	blood:
3	chr10:5852473..5857853-chr10:5880942..5888645,8	MCF-7	breast:
4	chr10:5875866..5877647-chr10:5881023..5883616,2	K562	blood:
5	chr10:5876253..5877969-chr10:5881683..5883648,2	K562	blood:
6	chr10:5851570..5858995-chr10:5881654..5887342,9	K562	blood:
7	chr10:5850869..5856128-chr10:5879241..5885807,8	K562	blood:

Variant related genes	Relation type
ENSG00000272764	Chromatin interaction
ENSG00000057608	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11257371	1.00[AFR][1000 genomes]
rs11592964	1.00[AFR][1000 genomes]
rs11594153	1.00[AFR][1000 genomes]
rs11595457	1.00[AFR][1000 genomes]
rs2296136	1.00[AFR][1000 genomes]
rs3136612	1.00[JPT][hapmap]
rs3181147	1.00[JPT][hapmap]
rs34249852	1.00[AFR][1000 genomes]
rs3750656	1.00[AFR][1000 genomes]
rs41306916	1.00[AFR][1000 genomes]
rs4749325	1.00[AFR][1000 genomes]
rs4749407	1.00[AFR][1000 genomes]
rs55718140	1.00[AFR][1000 genomes]
rs56213022	1.00[AFR][1000 genomes]
rs56296494	1.00[AFR][1000 genomes]
rs56354230	1.00[AFR][1000 genomes]
rs7904512	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv5654	chr10:5868365-5930634	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv982902	chr10:5872818-5889953	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3342274	chr10:5875995-5901345	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1794948	chr10:5880066-5892545	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1795821	chr10:5880066-5893268	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1801910	chr10:5881740-5898882	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1801679	chr10:5883033-5891501	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5875000-5886600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:5878000-5885600	Weak transcription	K562	blood
3	chr10:5881600-5883200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:5882000-5883400	Flanking Active TSS	HepG2	liver
5	chr10:5882200-5883200	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr10:5882200-5883200	Flanking Active TSS	GM12878-XiMat	blood
7	chr10:5882200-5883800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:5882200-5886800	Weak transcription	NHLF	lung
9	chr10:5882400-5883200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:5882400-5883200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:5882400-5883200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:5882400-5883400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:5882400-5883400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr10:5882400-5883400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr10:5882400-5883400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr10:5882400-5883400	Enhancers	Fetal Heart	heart
17	chr10:5882600-5883200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr10:5882600-5883200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:5882600-5883200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:5882600-5883400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:5882600-5883400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:5882600-5883800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:5882600-5886800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:5882600-5888000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:5882800-5883200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:5882800-5883200	Enhancers	Brain Anterior Caudate	brain
27	chr10:5882800-5883200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:5882800-5883200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr10:5882800-5883200	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr10:5882800-5883400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:5882800-5883400	Enhancers	Brain Angular Gyrus	brain
32	chr10:5882800-5883800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr10:5882800-5886800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:5882800-5886800	Weak transcription	NHDF-Ad	bronchial
35	chr10:5882800-5888200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr10:5883000-5883200	Enhancers	Primary B cells from cord blood	blood
37	chr10:5883000-5883200	Enhancers	Brain Cingulate Gyrus	brain
38	chr10:5883000-5883200	Enhancers	Brain Substantia Nigra	brain
39	chr10:5883000-5883200	Enhancers	Fetal Muscle Trunk	muscle
40	chr10:5883000-5883400	Enhancers	Brain Hippocampus Middle	brain
41	chr10:5883000-5883400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr10:5883000-5883600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr10:5883000-5884000	Weak transcription	Spleen	Spleen
44	chr10:5883000-5886200	Weak transcription	Placenta	Placenta
45	chr10:5883000-5886800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr10:5883000-5886800	Weak transcription	Left Ventricle	heart
47	chr10:5883000-5887000	Weak transcription	Adipose Nuclei	Adipose

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