Variant report

Variant	rs2510765
Chromosome Location	chr4:95386820-95386821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95372267..95374561-chr4:95384512..95387874,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17378777	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1820475	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2011525	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2433320	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2433322	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2433323	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2433326	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2438146	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2438147	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2438148	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2452553	0.85[EUR][1000 genomes]
rs2510762	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2510763	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28697067	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34570027	0.93[EUR][1000 genomes]
rs6812165	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs774982	0.87[EUR][1000 genomes]
rs9990678	0.90[EUR][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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95374200-95387000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:95374200-95388600	Weak transcription	Gastric	stomach
3	chr4:95374200-95389200	Weak transcription	Lung	lung
4	chr4:95374200-95395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:95374200-95400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:95374600-95388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:95374800-95398200	Weak transcription	Esophagus	oesophagus
8	chr4:95375000-95387600	Weak transcription	Fetal Stomach	stomach
9	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
10	chr4:95375800-95401600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:95376600-95392000	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:95378800-95391200	Weak transcription	Placenta	Placenta
13	chr4:95379200-95389000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:95379200-95389600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:95379200-95391000	Enhancers	Liver	Liver
16	chr4:95379200-95398400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr4:95380200-95393400	Weak transcription	HSMMtube	muscle
18	chr4:95380400-95387200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:95380600-95394600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr4:95381000-95387200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:95381000-95388200	Weak transcription	Stomach Mucosa	stomach
22	chr4:95381200-95387600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:95381200-95389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:95381200-95391400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:95381200-95393400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr4:95381600-95393000	Weak transcription	NH-A	brain
27	chr4:95381800-95387000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:95381800-95390000	Weak transcription	K562	blood
29	chr4:95382600-95387200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:95382600-95389400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:95382600-95390200	Weak transcription	Brain Anterior Caudate	brain
32	chr4:95383000-95395800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:95383000-95396000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:95383000-95396000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:95383400-95387200	Weak transcription	Fetal Intestine Large	intestine
36	chr4:95383600-95387000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:95384200-95389600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:95384200-95393600	Weak transcription	Hela-S3	cervix
39	chr4:95384800-95389800	Weak transcription	Adipose Nuclei	Adipose
40	chr4:95385000-95388400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr4:95385000-95388800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:95385000-95388800	Weak transcription	NHEK	skin
43	chr4:95385000-95389200	Weak transcription	HMEC	breast
44	chr4:95385200-95387000	Weak transcription	Small Intestine	intestine
45	chr4:95385200-95390400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:95385400-95387200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr4:95385400-95387600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr4:95385600-95387000	Weak transcription	Aorta	Aorta
49	chr4:95385600-95389400	Weak transcription	Ovary	ovary
50	chr4:95385800-95387000	Weak transcription	Right Ventricle	heart

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