Variant report

Variant	rs72726445
Chromosome Location	chr4:143470401-143470402
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:143470148..143471805-chr4:143527645..143530325,2	MCF-7	breast:
2	chr4:143422833..143425725-chr4:143470115..143471682,2	MCF-7	breast:
3	chr4:143451539..143454827-chr4:143468974..143471578,3	MCF-7	breast:
4	chr4:143390493..143399629-chr4:143464669..143473703,24	MCF-7	breast:
5	chr4:143455514..143457916-chr4:143469730..143472176,3	MCF-7	breast:
6	chr4:143436234..143437895-chr4:143469778..143471517,2	MCF-7	breast:
7	chr4:143469458..143471257-chr4:143473239..143475404,2	MCF-7	breast:
8	chr4:143469197..143474225-chr4:143534708..143538333,6	MCF-7	breast:
9	chr4:143469254..143471063-chr4:143535925..143538743,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10012389	1.00[ASN][1000 genomes]
rs10012488	1.00[ASN][1000 genomes]
rs11723032	1.00[ASN][1000 genomes]
rs11726084	1.00[ASN][1000 genomes]
rs11730175	1.00[ASN][1000 genomes]
rs11733464	1.00[ASN][1000 genomes]
rs28538792	1.00[ASN][1000 genomes]
rs28610391	1.00[ASN][1000 genomes]
rs28848935	1.00[ASN][1000 genomes]
rs56039025	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs59320449	1.00[ASN][1000 genomes]
rs72726436	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72726442	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7657917	0.94[AFR][1000 genomes];0.96[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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv461660	chr4:143437219-143538179	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv595605	chr4:143437219-143538179	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143461400-143471000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr4:143463000-143472200	Weak transcription	Aorta	Aorta
3	chr4:143465200-143470600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:143465600-143470800	Weak transcription	Stomach Mucosa	stomach
5	chr4:143465600-143472800	Weak transcription	Fetal Lung	lung
6	chr4:143465800-143470800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:143466000-143470800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:143466000-143471200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:143466200-143470600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:143466600-143471000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:143468200-143470600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:143468400-143473400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:143468600-143472600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:143468600-143473200	Enhancers	Fetal Intestine Small	intestine
15	chr4:143468800-143480000	Weak transcription	Left Ventricle	heart
16	chr4:143469000-143470800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr4:143469000-143473400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:143469200-143472600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:143469400-143472400	Weak transcription	Small Intestine	intestine
20	chr4:143469400-143477200	Weak transcription	Psoas Muscle	Psoas
21	chr4:143469600-143470600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:143469600-143470600	Weak transcription	Osteobl	bone
23	chr4:143469600-143471200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:143469600-143472400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:143469800-143470800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:143469800-143471000	Weak transcription	NHDF-Ad	bronchial
27	chr4:143470000-143473200	Enhancers	NH-A	brain
28	chr4:143470200-143471400	Enhancers	A549	lung
29	chr4:143470200-143471600	Flanking Active TSS	NHEK	skin
30	chr4:143470200-143472600	Enhancers	Fetal Intestine Large	intestine
31	chr4:143470200-143472800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:143470200-143473600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:143470200-143474800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr4:143470200-143477400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr4:143470400-143470800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:143470400-143470800	Enhancers	Pancreas	Pancrea
37	chr4:143470400-143470800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr4:143470400-143471000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:143470400-143471000	Flanking Active TSS	HMEC	breast
40	chr4:143470400-143471200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr4:143470400-143471400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:143470400-143471400	Enhancers	Esophagus	oesophagus
43	chr4:143470400-143471600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:143470400-143471600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr4:143470400-143472200	Enhancers	Fetal Heart	heart
46	chr4:143470400-143472400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:143470400-143472400	Enhancers	Hela-S3	cervix
48	chr4:143470400-143472400	Enhancers	HUVEC	blood vessel
49	chr4:143470400-143472600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:143470400-143473200	Enhancers	HSMM	muscle

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