Variant report

Variant	rs16972772
Chromosome Location	chr15:42443984-42443985
allele	C/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	KAP1	chr15:42443917-42444650	HEK293	kidney:	n/a	n/a
2	ZNF263	chr15:42443615-42444623	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42438588..42441073-chr15:42442171..42444536,4	MCF-7	breast:
2	chr15:42443129..42444925-chr15:42485873..42487790,2	MCF-7	breast:
3	chr15:42440587..42442217-chr15:42443778..42446321,2	K562	blood:

Variant related genes	Relation type
PLA2G4F	TF binding region
ENSG00000168907	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16972405	1.00[EUR][1000 genomes]
rs16972704	1.00[EUR][1000 genomes]
rs16972775	1.00[EUR][1000 genomes]
rs16972973	1.00[EUR][1000 genomes]
rs16972983	1.00[EUR][1000 genomes]
rs16972993	1.00[EUR][1000 genomes]
rs16973003	1.00[EUR][1000 genomes]
rs16973006	1.00[EUR][1000 genomes]
rs16973103	1.00[EUR][1000 genomes]
rs16973149	1.00[EUR][1000 genomes]
rs56851540	1.00[AMR][1000 genomes]
rs59897576	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60834836	1.00[AMR][1000 genomes]
rs6493032	1.00[EUR][1000 genomes]
rs7163294	1.00[EUR][1000 genomes]
rs7164282	1.00[EUR][1000 genomes]
rs7182959	1.00[EUR][1000 genomes]
rs7183741	1.00[EUR][1000 genomes]
rs8037390	1.00[EUR][1000 genomes]
rs8037485	1.00[EUR][1000 genomes]
rs8041155	1.00[EUR][1000 genomes]
rs9672364	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9745221	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv471683	chr15:42334375-42502982	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv832985	chr15:42371482-42564966	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv9245	chr15:42441849-42453572	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42411600-42444200	Weak transcription	Right Atrium	heart
2	chr15:42436000-42452000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:42439400-42451200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr15:42439400-42451800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:42439600-42444200	Weak transcription	Fetal Intestine Small	intestine
6	chr15:42439600-42448600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:42441200-42450600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr15:42441600-42446200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr15:42441800-42451000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr15:42442600-42445000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:42442600-42447000	Enhancers	Esophagus	oesophagus
12	chr15:42442600-42447400	Weak transcription	Spleen	Spleen
13	chr15:42442800-42445000	Enhancers	NHEK	skin
14	chr15:42442800-42445400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:42443000-42445000	Enhancers	Right Ventricle	heart
16	chr15:42443000-42445600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:42443200-42444200	Weak transcription	HMEC	breast
18	chr15:42443200-42445000	Enhancers	Brain Anterior Caudate	brain
19	chr15:42443400-42444000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr15:42443400-42444800	Enhancers	Osteobl	bone
21	chr15:42443400-42445200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:42443400-42445400	Enhancers	Fetal Muscle Trunk	muscle
23	chr15:42443400-42447600	Enhancers	Gastric	stomach
24	chr15:42443600-42444600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr15:42443600-42444600	Enhancers	Placenta	Placenta
26	chr15:42443600-42444800	Enhancers	Fetal Lung	lung
27	chr15:42443600-42444800	Enhancers	Fetal Muscle Leg	muscle
28	chr15:42443600-42445000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:42443600-42445000	Enhancers	Brain Hippocampus Middle	brain
30	chr15:42443600-42445000	Enhancers	Fetal Heart	heart
31	chr15:42443600-42445800	Enhancers	Left Ventricle	heart
32	chr15:42443600-42445800	Enhancers	Lung	lung
33	chr15:42443600-42445800	Enhancers	Psoas Muscle	Psoas
34	chr15:42443600-42447000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr15:42443600-42447600	Enhancers	Colonic Mucosa	Colon
36	chr15:42443800-42444000	Enhancers	HUVEC	blood vessel
37	chr15:42443800-42444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:42443800-42444600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:42443800-42444600	Bivalent Enhancer	HepG2	liver
40	chr15:42443800-42444600	Enhancers	HSMMtube	muscle
41	chr15:42443800-42444800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:42443800-42444800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr15:42443800-42444800	Enhancers	Brain Substantia Nigra	brain
44	chr15:42443800-42445000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr15:42443800-42445000	Enhancers	Brain Angular Gyrus	brain
46	chr15:42443800-42446400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr15:42443800-42448000	Enhancers	Skeletal Muscle Male	skeletal muscle

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