Variant report

Variant	rs72730409
Chromosome Location	chr4:143768890-143768891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr4:143768142-143768925	HCT-116	colon:	n/a	chr4:143768586-143768605 chr4:143768589-143768602
2	RAD21	chr4:143768238-143768944	MCF-7	breast:	n/a	chr4:143768586-143768605 chr4:143768589-143768602
3	CTCF	chr4:143768282-143768954	HCT-116	colon:	n/a	chr4:143768588-143768606 chr4:143768589-143768605 chr4:143768593-143768606 chr4:143768583-143768604 chr4:143768523-143768533 chr4:143768590-143768603
4	CTCF	chr4:143768234-143768965	A549	lung:	n/a	chr4:143768588-143768606 chr4:143768589-143768605 chr4:143768593-143768606 chr4:143768583-143768604 chr4:143768523-143768533 chr4:143768590-143768603
5	SIN3A	chr4:143768250-143768921	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr4:143768104-143768996	HCT-116	colon:	n/a	chr4:143768586-143768605 chr4:143768589-143768602
7	CTCF	chr4:143768862-143768901	GM12892	blood:	n/a	n/a
8	CTCF	chr4:143768640-143768910	HCM	heart:	n/a	n/a
9	RAD21	chr4:143768339-143768890	MCF-7	breast:	n/a	chr4:143768586-143768605 chr4:143768589-143768602

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143392966..143400087-chr4:143764739..143770446,12	MCF-7	breast:
2	chr4:143391120..143394953-chr4:143764140..143771077,8	MCF-7	breast:

Variant related genes	Relation type
INPP4B	TF binding region
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10519666	0.82[ASN][1000 genomes]
rs11100761	0.82[ASN][1000 genomes]
rs11736709	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13112916	0.85[ASN][1000 genomes]
rs13122287	0.88[ASN][1000 genomes]
rs13145724	0.85[ASN][1000 genomes]
rs1441411	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1441417	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1441418	0.82[ASN][1000 genomes]
rs1444949	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1444950	0.86[ASN][1000 genomes]
rs17732791	0.82[ASN][1000 genomes]
rs1992417	0.82[ASN][1000 genomes]
rs1992418	0.82[ASN][1000 genomes]
rs1992652	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2218240	0.85[ASN][1000 genomes]
rs34831472	0.82[ASN][1000 genomes]
rs4575951	0.85[ASN][1000 genomes]
rs4690728	0.85[ASN][1000 genomes]
rs4690729	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58445560	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60263370	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6537129	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6537130	0.85[ASN][1000 genomes]
rs6811022	0.82[ASN][1000 genomes]
rs6822703	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6823627	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6828896	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6831204	0.84[ASN][1000 genomes]
rs6838663	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6839158	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6846609	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72728686	0.82[ASN][1000 genomes]
rs72728694	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72728700	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73850583	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656375	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7660533	0.82[ASN][1000 genomes]
rs7663475	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7668552	0.82[ASN][1000 genomes]
rs7668786	0.82[ASN][1000 genomes]
rs7670139	0.85[ASN][1000 genomes]
rs7685997	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9994364	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880174	chr4:143639498-143848024	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143767400-143769000	Active TSS	Brain Anterior Caudate	brain
2	chr4:143768200-143769000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:143768200-143769000	Flanking Active TSS	Dnd41	blood
4	chr4:143768200-143769400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:143768400-143769000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:143768600-143769000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
7	chr4:143768600-143769000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr4:143768600-143769000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr4:143768600-143769000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:143768600-143769000	Enhancers	Brain Angular Gyrus	brain
11	chr4:143768600-143769000	Enhancers	Brain Cingulate Gyrus	brain
12	chr4:143768600-143769000	Bivalent Enhancer	Fetal Lung	lung
13	chr4:143768600-143769000	Flanking Active TSS	A549	lung
14	chr4:143768600-143769000	Bivalent Enhancer	NHDF-Ad	bronchial
15	chr4:143768600-143772400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:143768600-143781200	Weak transcription	Psoas Muscle	Psoas
17	chr4:143768800-143769000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:143768800-143769000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr4:143768800-143769000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr4:143768800-143769000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:143768800-143769000	Enhancers	Colon Smooth Muscle	Colon
22	chr4:143768800-143769200	Flanking Active TSS	Primary hematopoietic stem cells	blood

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