Variant report

Variant	rs2433326
Chromosome Location	chr4:95385538-95385539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95382790..95385673-chr4:95467254..95469616,3	K562	blood:
2	chr4:95372267..95374561-chr4:95384512..95387874,4	MCF-7	breast:
3	chr4:95378587..95381661-chr4:95382526..95385880,5	K562	blood:

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	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1820475	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2011525	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433320	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433322	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433323	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2438146	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2438147	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2438148	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452553	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2510762	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510763	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510765	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28697067	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34570027	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6812165	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs774982	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9990678	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][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:81 , 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	chr4:95379200-95386800	Weak transcription	Pancreas	Pancrea
14	chr4:95379200-95389000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:95379200-95389600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:95379200-95391000	Enhancers	Liver	Liver
17	chr4:95379200-95398400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr4:95380200-95393400	Weak transcription	HSMMtube	muscle
19	chr4:95380400-95387200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:95380600-95394600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:95381000-95387200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:95381000-95388200	Weak transcription	Stomach Mucosa	stomach
23	chr4:95381200-95387600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:95381200-95389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:95381200-95391400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:95381200-95393400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:95381600-95393000	Weak transcription	NH-A	brain
28	chr4:95381800-95386200	Enhancers	HepG2	liver
29	chr4:95381800-95386600	Weak transcription	Left Ventricle	heart
30	chr4:95381800-95387000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:95381800-95390000	Weak transcription	K562	blood
32	chr4:95382200-95385800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:95382600-95387200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:95382600-95389400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:95382600-95390200	Weak transcription	Brain Anterior Caudate	brain
36	chr4:95383000-95395800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:95383000-95396000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:95383000-95396000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:95383400-95385800	Enhancers	NHDF-Ad	bronchial
40	chr4:95383400-95386000	Genic enhancers	Osteobl	bone
41	chr4:95383400-95387200	Weak transcription	Fetal Intestine Large	intestine
42	chr4:95383600-95386200	Enhancers	Colon Smooth Muscle	Colon
43	chr4:95383600-95387000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:95383800-95386400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr4:95384200-95385600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:95384200-95385600	Enhancers	Ovary	ovary
47	chr4:95384200-95389600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:95384200-95393600	Weak transcription	Hela-S3	cervix
49	chr4:95384600-95385600	Enhancers	Aorta	Aorta
50	chr4:95384600-95386000	Enhancers	HUVEC	blood vessel

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