Variant report

Variant	rs2865992
Chromosome Location	chr4:99067181-99067182
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99066128..99069024-chr4:99180594..99183920,3	MCF-7	breast:
2	chr4:99062262..99068404-chr4:99178848..99183768,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138698	Chromatin interaction
ENSG00000214559	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1214994	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13134479	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2555390	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6854802	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6855827	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs783921	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783924	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs783925	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs783934	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs783945	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs783947	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs783949	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs804051	0.86[EUR][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	nsv1002098	chr4:98501337-99086320	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv537193	chr4:98501337-99086320	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv879648	chr4:98547717-99104879	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1000011	chr4:98562308-99101692	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1000956	chr4:98732458-99178588	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1001570	chr4:98976239-99239838	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv879650	chr4:99057457-99172232	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv998270	chr4:99063275-99120404	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv461595	chr4:99065480-99172175	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv594939	chr4:99065480-99172175	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99065000-99067200	Weak transcription	NHDF-Ad	bronchial
2	chr4:99065200-99069000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:99065200-99069400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:99065200-99069600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr4:99065200-99069600	Weak transcription	HSMM	muscle
6	chr4:99065200-99069600	Weak transcription	HUVEC	blood vessel
7	chr4:99065200-99069800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:99065200-99070000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:99065200-99070000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:99065400-99069200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:99065400-99069200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:99065400-99069600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:99065400-99069800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:99065400-99069800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:99065400-99070000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:99065400-99070000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:99065600-99069400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:99065600-99069800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr4:99065600-99069800	Weak transcription	Primary T cells from cord blood	blood
20	chr4:99065600-99070000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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