Variant report

Variant	rs72986432
Chromosome Location	chr3:133968912-133968913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133966207..133969204-chr3:134075829..134077344,2	MCF-7	breast:
2	chr3:133967562..133971327-chr3:134067822..134072418,4	MCF-7	breast:
3	chr3:133966982..133969357-chr3:134203200..134205519,3	MCF-7	breast:
4	chr3:133968058..133969986-chr3:134093152..134094854,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129055	Chromatin interaction
ENSG00000182923	Chromatin interaction
ENSG00000114019	Chromatin interaction
ENSG00000260633	Chromatin interaction
ENSG00000214289	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs4613428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57032924	0.86[AFR][1000 genomes]
rs59757921	1.00[AMR][1000 genomes]
rs61387165	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6767331	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6771052	0.92[AFR][1000 genomes]
rs6792002	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72984466	0.86[AFR][1000 genomes]
rs72984483	0.92[AFR][1000 genomes]
rs72984488	0.86[AFR][1000 genomes]
rs72984501	0.94[AFR][1000 genomes]
rs72986403	0.94[AFR][1000 genomes]
rs72986405	0.97[AFR][1000 genomes]
rs72986428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv1794616	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv1798974	chr3:133949713-133973731	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv1802675	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv1815799	chr3:133949713-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv1819695	chr3:133949713-133973731	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	esv1822126	chr3:133949713-133973731	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv1839030	chr3:133949713-133973731	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	esv1799165	chr3:133959746-133973731	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	esv1803106	chr3:133959746-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	esv3406249	chr3:133968537-133970760	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133966600-133970200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:133967000-133969000	Weak transcription	Spleen	Spleen
3	chr3:133967400-133970400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:133967600-133969000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:133967600-133970200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:133967800-133969000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr3:133967800-133969000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr3:133967800-133969200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:133967800-133969800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:133967800-133970000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr3:133967800-133970200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:133967800-133970200	Active TSS	A549	lung
13	chr3:133968000-133969000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr3:133968000-133969000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr3:133968000-133969000	Flanking Active TSS	Fetal Brain Male	brain
16	chr3:133968000-133969000	Flanking Active TSS	HUVEC	blood vessel
17	chr3:133968000-133969200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr3:133968000-133970000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:133968000-133970200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr3:133968000-133970200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:133968000-133970200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:133968000-133970200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr3:133968000-133970200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:133968000-133970200	Active TSS	Fetal Intestine Small	intestine
25	chr3:133968000-133970200	Active TSS	Hela-S3	cervix
26	chr3:133968000-133970200	Active TSS	HSMMtube	muscle
27	chr3:133968000-133970200	Active TSS	K562	blood
28	chr3:133968000-133970400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr3:133968000-133970400	Active TSS	HepG2	liver
30	chr3:133968000-133970800	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr3:133968200-133969000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr3:133968200-133969000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:133968200-133969000	Flanking Active TSS	Liver	Liver
34	chr3:133968200-133969000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr3:133968200-133969000	Active TSS	Right Atrium	heart
36	chr3:133968200-133969200	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr3:133968200-133969200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr3:133968200-133969200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:133968200-133969800	Active TSS	H1 Cell Line	embryonic stem cell
40	chr3:133968200-133970000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr3:133968200-133970000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:133968200-133970000	Active TSS	NHEK	skin
43	chr3:133968200-133970200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr3:133968200-133970200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr3:133968200-133970200	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr3:133968200-133970200	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr3:133968200-133970200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:133968200-133970200	Active TSS	Aorta	Aorta
49	chr3:133968200-133970200	Active TSS	Brain Angular Gyrus	brain
50	chr3:133968200-133970200	Active TSS	Fetal Intestine Large	intestine

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