Variant report

Variant	rs11632672
Chromosome Location	chr15:79044330-79044331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr15:79044185-79046299	SK-N-SH	brain:	n/a	chr15:79044205-79044221
2	MXI1	chr15:79044077-79046320	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:79044299-79044349	NHBE	bronchial:	n/a
2	chr15:79044299-79044349	HL-60	blood:	n/a
3	chr15:79044299-79044349	PFSK-1	brain:	n/a
4	chr15:79044299-79044349	GM19239	blood:	n/a
5	chr15:79044299-79044349	IMR90	lung:	fetal
6	chr15:79044299-79044349	NHDF-neo	bronchial:	n/a
7	chr15:79044299-79044349	MCF-7	breast:	n/a
8	chr15:79044299-79044349	MCF10A-Er-Src	breast:	n/a
9	chr15:79044299-79044349	ovcar-3	ovarian:	n/a
10	chr15:79044299-79044349	A549	lung:	n/a
11	chr15:79044299-79044349	BJ	skin:	n/a
12	chr15:79044299-79044349	BE2_C	brain:	n/a
13	chr15:79044299-79044349	RPTEC	kidney:	n/a
14	chr15:79044299-79044349	SK-N-SH_RA	brain:	n/a
15	chr15:79044299-79044349	AG04449	skin:	fetal
16	chr15:79044299-79044349	HRCEpiC	kidney:	n/a
17	chr15:79044299-79044349	HIPEpiC	eye:	n/a
18	chr15:79044299-79044349	Caco-2	colon:	n/a
19	chr15:79044299-79044349	AG09309	skin:	n/a
20	chr15:79044299-79044349	GM06990	blood:	n/a
21	chr15:79044299-79044349	LNCaP	prostate:	n/a
22	chr15:79044299-79044349	HUVEC	blood vessel:	n/a
23	chr15:79044299-79044349	AoSMC	blood vessel:	n/a
24	chr15:79044299-79044349	HRPEpiC	eye:	n/a
25	chr15:79044299-79044349	H1-hESC	embryonic stem cell:	embryo
26	chr15:79044299-79044349	HCM	heart:	n/a
27	chr15:79044299-79044349	HPAEpiC	pulmonary alveolar:	n/a
28	chr15:79044299-79044349	HCT-116	colon:	n/a
29	chr15:79044299-79044349	NH-A	brain:	n/a
30	chr15:79044299-79044349	Hepatocyte	liver:	n/a
31	chr15:79044299-79044349	ECC-1	luminal epithelium:	n/a
32	chr15:79044299-79044349	AG04450	lung:	fetal
33	chr15:79044299-79044349	PrEC	prostate:	n/a
34	chr15:79044299-79044349	HAEpiC	amniotic membrane:	n/a
35	chr15:79044299-79044349	NB4	blood:	n/a
36	chr15:79044299-79044349	HCPEpiC	choroid plexus:	n/a
37	chr15:79044299-79044349	K562	blood:	n/a
38	chr15:79044299-79044349	HEK293	kidney:	embryo
39	chr15:79044299-79044349	CMK	blood:	n/a
40	chr15:79044299-79044349	ProgFib	skin:	n/a
41	chr15:79044299-79044349	GM12891	blood:	n/a
42	chr15:79044299-79044349	HRE	kidney:	n/a
43	chr15:79044299-79044349	U87	brain:	n/a
44	chr15:79044299-79044349	SK-N-MC	brain:	n/a
45	chr15:79044299-79044349	HNPCEpiC	eye:	n/a
46	chr15:79044299-79044349	HMEC	breast:	n/a
47	chr15:79044299-79044349	AG10803	skin:	n/a
48	chr15:79044299-79044349	HEEpiC	esophagus:	n/a
49	chr15:79044299-79044349	HepG2	liver:	n/a
50	chr15:79044299-79044349	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78290955..78292806-chr15:79043518..79045037,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238166	TF binding region
ENSG00000238166	CpG island
ENSG00000167202	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11072800	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633152	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11852909	0.82[ASN][1000 genomes]
rs12148817	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12899201	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12901228	0.81[ASN][1000 genomes]
rs12904489	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12906022	0.80[ASN][1000 genomes]
rs12906165	0.80[ASN][1000 genomes]
rs12906835	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906847	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12906977	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12907207	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12907432	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12907536	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12909668	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12910831	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12912245	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12913779	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12917502	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1383634	0.87[ASN][1000 genomes]
rs1383635	0.84[ASN][1000 genomes]
rs1825086	0.87[ASN][1000 genomes]
rs1904920	0.84[ASN][1000 genomes]
rs1964562	0.81[ASN][1000 genomes]
rs2017091	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2017297	0.87[ASN][1000 genomes]
rs2046143	0.81[ASN][1000 genomes]
rs2219939	0.82[ASN][1000 genomes]
rs2622821	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34019568	0.81[ASN][1000 genomes]
rs4887091	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887092	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59414039	0.81[ASN][1000 genomes]
rs7176070	0.80[EUR][1000 genomes]
rs7177143	0.85[ASN][1000 genomes]
rs7182567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182694	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182993	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755998	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8024939	0.85[ASN][1000 genomes]
rs8030090	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8030335	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv974606	chr15:78996783-79048337	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79033000-79045000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:79040600-79060000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:79042800-79045000	Enhancers	Fetal Heart	heart
4	chr15:79042800-79055400	Enhancers	Right Ventricle	heart
5	chr15:79043000-79044400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr15:79043200-79044800	Weak transcription	Fetal Brain Male	brain
7	chr15:79043200-79047200	Weak transcription	NHDF-Ad	bronchial
8	chr15:79043400-79044600	Enhancers	Fetal Muscle Leg	muscle
9	chr15:79043400-79045400	Weak transcription	Right Atrium	heart
10	chr15:79043400-79046800	Enhancers	HSMMtube	muscle
11	chr15:79043400-79048200	Weak transcription	NH-A	brain
12	chr15:79043400-79048600	Weak transcription	Brain Angular Gyrus	brain
13	chr15:79043400-79049200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:79043400-79049200	Weak transcription	NHLF	lung
15	chr15:79043400-79049400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:79043400-79049600	Weak transcription	Pancreas	Pancrea
17	chr15:79043600-79045600	Enhancers	HSMM	muscle
18	chr15:79043600-79046400	Weak transcription	A549	lung
19	chr15:79043600-79046800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:79043600-79046800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr15:79043600-79048200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:79043600-79048600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:79043600-79049600	Weak transcription	Colonic Mucosa	Colon
24	chr15:79043600-79049800	Weak transcription	Fetal Brain Female	brain
25	chr15:79043600-79077800	Weak transcription	Brain Germinal Matrix	brain
26	chr15:79043800-79044400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:79043800-79045200	Weak transcription	Adipose Nuclei	Adipose
28	chr15:79043800-79046600	Weak transcription	Ovary	ovary
29	chr15:79043800-79046800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:79043800-79048000	Weak transcription	Osteobl	bone
31	chr15:79043800-79048600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr15:79043800-79049200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:79043800-79049200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:79043800-79049200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:79043800-79049600	Weak transcription	Lung	lung
36	chr15:79043800-79052000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:79043800-79053400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr15:79044000-79045000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:79044000-79045000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr15:79044000-79045000	Weak transcription	Spleen	Spleen
41	chr15:79044000-79045400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr15:79044000-79046200	Weak transcription	Left Ventricle	heart
43	chr15:79044000-79046600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:79044000-79047400	Weak transcription	Colon Smooth Muscle	Colon
45	chr15:79044000-79048000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:79044000-79048200	Weak transcription	Primary B cells from cord blood	blood
47	chr15:79044000-79048200	Weak transcription	HUVEC	blood vessel
48	chr15:79044000-79048400	Weak transcription	Brain Hippocampus Middle	brain
49	chr15:79044000-79049200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr15:79044000-79049200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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