Variant report

Variant	rs10519048
Chromosome Location	chr15:74465548-74465549
allele	C/T
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	CTCF	chr15:74465400-74465550	SAEC	small airway:	n/a	n/a
2	FOXP2	chr15:74465245-74465606	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr15:74460105-74471859	A549	lung:	n/a	n/a
4	CTCF	chr15:74465400-74465550	HCFaa	heart:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74465289..74467713-chr15:74468699..74473006,4	MCF-7	breast:
2	chr15:74465310..74466081-chr15:74488442..74489174,2	K562	blood:

Variant related genes	Relation type
ISLR	TF binding region
ENSG00000137868	Chromatin interaction
ENSG00000261543	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs351162	1.00[EUR][1000 genomes]
rs351228	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs351236	1.00[EUR][1000 genomes]
rs351239	1.00[EUR][1000 genomes]
rs74023435	1.00[AMR][1000 genomes]
rs74023437	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74023444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8042459	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469619	chr15:74291859-74466321	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv482362	chr15:74291859-74466321	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1050884	chr15:74394983-74489413	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74449400-74465600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:74460000-74465600	Enhancers	Fetal Muscle Leg	muscle
3	chr15:74460200-74465600	Enhancers	Ovary	ovary
4	chr15:74460200-74466000	Enhancers	Fetal Muscle Trunk	muscle
5	chr15:74460200-74466000	Enhancers	Fetal Stomach	stomach
6	chr15:74460200-74466400	Enhancers	Spleen	Spleen
7	chr15:74461000-74465600	Enhancers	Fetal Lung	lung
8	chr15:74461000-74465600	Enhancers	Placenta	Placenta
9	chr15:74461600-74466200	Weak transcription	Pancreas	Pancrea
10	chr15:74463000-74467400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:74464200-74466000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:74464400-74465600	Enhancers	Adipose Nuclei	Adipose
13	chr15:74464400-74465600	Enhancers	Fetal Kidney	kidney
14	chr15:74464400-74466200	Enhancers	Right Atrium	heart
15	chr15:74464400-74466200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr15:74464400-74466200	Enhancers	GM12878-XiMat	blood
17	chr15:74464400-74467600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:74464600-74465600	Enhancers	Duodenum Mucosa	Duodenum
19	chr15:74464600-74466000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr15:74464600-74466200	Enhancers	NHLF	lung
21	chr15:74464600-74466800	Enhancers	Fetal Heart	heart
22	chr15:74464600-74467000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr15:74464600-74467400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:74464600-74467400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:74464600-74467400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr15:74464600-74467400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr15:74464800-74465600	Enhancers	NHDF-Ad	bronchial
28	chr15:74464800-74465800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr15:74464800-74466000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr15:74464800-74466200	Enhancers	Left Ventricle	heart
31	chr15:74464800-74466600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:74464800-74466600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:74464800-74467200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:74464800-74473600	Enhancers	Right Ventricle	heart
35	chr15:74465000-74465600	Enhancers	Colonic Mucosa	Colon
36	chr15:74465000-74466000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr15:74465000-74466000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:74465000-74466000	Bivalent Enhancer	Fetal Intestine Large	intestine
39	chr15:74465000-74466000	Enhancers	Fetal Intestine Small	intestine
40	chr15:74465000-74466200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:74465000-74466600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr15:74465000-74466800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:74465000-74467200	Enhancers	Lung	lung
44	chr15:74465000-74467400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:74465000-74467400	Enhancers	Osteobl	bone
46	chr15:74465000-74467800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:74465000-74470000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr15:74465200-74465600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr15:74465200-74465800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr15:74465200-74466000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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