Variant report

Variant	rs73832319
Chromosome Location	chr4:99401939-99401940
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	chr4:99180371..99183647-chr4:99401160..99403823,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138698	Chromatin interaction
ENSG00000214559	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10011269	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17027607	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28477881	0.84[EUR][1000 genomes]
rs28562062	0.84[EUR][1000 genomes]
rs73832318	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99389200-99403600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr4:99389200-99404000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:99389200-99404000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:99389200-99404000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:99389200-99404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:99389200-99407000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:99389200-99413000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:99389400-99402800	Weak transcription	A549	lung
9	chr4:99389400-99403000	Weak transcription	Fetal Kidney	kidney
10	chr4:99389400-99403200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:99389400-99403800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:99389400-99419800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr4:99390000-99405000	Weak transcription	Fetal Intestine Small	intestine
14	chr4:99390200-99402000	Weak transcription	Pancreas	Pancrea
15	chr4:99390200-99402200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:99390200-99402400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:99390200-99404000	Weak transcription	Spleen	Spleen
18	chr4:99390200-99404200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:99390200-99405400	Weak transcription	Left Ventricle	heart
20	chr4:99390800-99413200	Weak transcription	Brain Anterior Caudate	brain
21	chr4:99392000-99404600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:99392200-99402400	Weak transcription	HSMMtube	muscle
23	chr4:99392200-99402800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:99392600-99403600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:99392600-99408600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr4:99392600-99411800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:99394000-99403200	Weak transcription	HUVEC	blood vessel
28	chr4:99394000-99413200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:99394200-99403200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:99395600-99402000	Weak transcription	Brain Germinal Matrix	brain
31	chr4:99396200-99431400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:99396400-99412400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:99396800-99403400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:99397000-99403200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:99397600-99402000	Weak transcription	Fetal Brain Male	brain
36	chr4:99397600-99439400	Weak transcription	Primary B cells from cord blood	blood
37	chr4:99398000-99407600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:99398800-99402000	Weak transcription	Aorta	Aorta
39	chr4:99398800-99402000	Weak transcription	Lung	lung
40	chr4:99398800-99403800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr4:99399600-99404000	Weak transcription	Thymus	Thymus
42	chr4:99399600-99407600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:99399800-99402200	Weak transcription	Fetal Brain Female	brain
44	chr4:99400000-99402000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:99400000-99402000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:99400000-99402000	Weak transcription	Ovary	ovary
47	chr4:99400000-99402200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:99400000-99402800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:99400000-99403000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr4:99400000-99404200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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