Variant report

Variant	rs731989
Chromosome Location	chr4:148784651-148784652
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	chr4:148603830..148606131-chr4:148782942..148784655,2	MCF-7	breast:
2	chr4:148779501..148782330-chr4:148784561..148786654,2	K562	blood:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction
ENSG00000164169	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10010996	1.00[EUR][1000 genomes]
rs10012122	1.00[EUR][1000 genomes]
rs10213616	1.00[EUR][1000 genomes]
rs10519932	1.00[EUR][1000 genomes]
rs1436492	1.00[EUR][1000 genomes]
rs17023827	1.00[EUR][1000 genomes]
rs17023950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17024108	1.00[EUR][1000 genomes]
rs17024163	1.00[EUR][1000 genomes]
rs28371967	1.00[EUR][1000 genomes]
rs41435251	1.00[EUR][1000 genomes]
rs55689306	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56742479	1.00[EUR][1000 genomes]
rs58776118	1.00[EUR][1000 genomes]
rs59129054	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59222333	1.00[EUR][1000 genomes]
rs59845678	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6813344	1.00[EUR][1000 genomes]
rs6815620	1.00[EUR][1000 genomes]
rs6848211	1.00[EUR][1000 genomes]
rs72957764	1.00[EUR][1000 genomes]
rs72957767	1.00[EUR][1000 genomes]
rs72957792	1.00[EUR][1000 genomes]
rs73853711	1.00[EUR][1000 genomes]
rs7661589	1.00[EUR][1000 genomes]
rs7663257	1.00[EUR][1000 genomes]
rs7699281	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr4:148763200-148796200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:148764400-148786000	Weak transcription	NH-A	brain
3	chr4:148764400-148787000	Weak transcription	NHEK	skin
4	chr4:148764600-148787800	Weak transcription	HMEC	breast
5	chr4:148766400-148787600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:148766600-148796200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:148767600-148796400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
9	chr4:148770400-148796200	Weak transcription	Fetal Kidney	kidney
10	chr4:148772000-148806000	Weak transcription	Fetal Thymus	thymus
11	chr4:148772400-148785800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:148776400-148787200	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:148777000-148796200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:148777000-148823000	Weak transcription	Small Intestine	intestine
15	chr4:148777400-148796600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr4:148777800-148796200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:148778600-148787400	Weak transcription	Hela-S3	cervix
18	chr4:148779800-148793800	Weak transcription	Fetal Lung	lung
19	chr4:148781600-148786400	Enhancers	Adipose Nuclei	Adipose
20	chr4:148782000-148799400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:148782400-148785400	Weak transcription	Spleen	Spleen
22	chr4:148782400-148786000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:148782600-148785000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:148782800-148786200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:148782800-148787800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:148783000-148784800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:148783000-148796200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:148783000-148796200	Weak transcription	Thymus	Thymus
29	chr4:148783200-148785000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:148783200-148786200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:148783200-148787400	Enhancers	Ovary	ovary
32	chr4:148783400-148785200	Enhancers	HSMMtube	muscle
33	chr4:148783400-148785400	Weak transcription	Pancreas	Pancrea
34	chr4:148783400-148786000	Genic enhancers	HSMM	muscle
35	chr4:148783400-148786000	Enhancers	NHDF-Ad	bronchial
36	chr4:148783400-148796400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:148783400-148796400	Weak transcription	Lung	lung
38	chr4:148783600-148785200	Weak transcription	Aorta	Aorta
39	chr4:148783600-148785600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:148783600-148787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:148783600-148789800	Weak transcription	Fetal Intestine Small	intestine
42	chr4:148783600-148796200	Weak transcription	Esophagus	oesophagus
43	chr4:148783600-148796200	Weak transcription	Placenta	Placenta
44	chr4:148783800-148785000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:148783800-148785000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:148783800-148785000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:148783800-148785400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:148783800-148785400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:148783800-148787000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:148783800-148787200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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