Variant report

Variant	rs56686272
Chromosome Location	chr15:76006067-76006068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr15:76005687-76006250	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFIC	chr15:76005742-76006294	ECC-1	luminal epithelium:	n/a	n/a
3	JUND	chr15:76005812-76006185	H1-hESC	embryonic stem cell:	n/a	n/a
4	KAP1	chr15:76005746-76006182	U2OS	brain:	n/a	n/a
5	JUND	chr15:76005314-76006109	H1-hESC	embryonic stem cell:	n/a	n/a
6	NFIC	chr15:76005691-76006351	ECC-1	luminal epithelium:	n/a	n/a
7	GABPA	chr15:76005855-76006152	H1-hESC	embryonic stem cell:	n/a	n/a
8	SP1	chr15:76005682-76006247	H1-hESC	embryonic stem cell:	n/a	n/a
9	FOXP2	chr15:76005812-76006218	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr15:76005771-76006400	PFSK-1	brain:	n/a	n/a
11	SMARCB1	chr15:76004747-76006294	Hela-S3	cervix:	n/a	n/a
12	TBP	chr15:76005559-76006098	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr15:76005774-76006187	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3A	chr15:76005764-76006163	H1-hESC	embryonic stem cell:	n/a	n/a
15	RFX5	chr15:76005966-76006083	HepG2	liver:	n/a	n/a
16	YY1	chr15:76005690-76006174	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr15:76005960-76006110	GM12873	blood:	n/a	n/a
18	ZC3H11A	chr15:76005956-76006075	K562	blood:	n/a	n/a
19	JUND	chr15:76005820-76006109	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr15:76005807-76006295	PFSK-1	brain:	n/a	n/a
21	CTBP2	chr15:76004931-76006191	H1-hESC	embryonic stem cell:	n/a	n/a
22	RCOR1	chr15:76005932-76006201	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
CSPG4	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12102136	1.00[AMR][1000 genomes]
rs16967294	1.00[AMR][1000 genomes]
rs28372561	1.00[AMR][1000 genomes]
rs28395383	1.00[AMR][1000 genomes]
rs28396803	1.00[AMR][1000 genomes]
rs28398053	1.00[AMR][1000 genomes]
rs28412110	1.00[AMR][1000 genomes]
rs28413637	1.00[AMR][1000 genomes]
rs28414758	1.00[AMR][1000 genomes]
rs28420558	1.00[AMR][1000 genomes]
rs28432282	1.00[AMR][1000 genomes]
rs28450740	1.00[AMR][1000 genomes]
rs28504376	1.00[AMR][1000 genomes]
rs28505697	1.00[AMR][1000 genomes]
rs28510991	1.00[AMR][1000 genomes]
rs28519586	1.00[AMR][1000 genomes]
rs28530778	1.00[AMR][1000 genomes]
rs28533248	1.00[AMR][1000 genomes]
rs28550881	1.00[AMR][1000 genomes]
rs28567605	1.00[AMR][1000 genomes]
rs28628290	1.00[AMR][1000 genomes]
rs28628820	1.00[AMR][1000 genomes]
rs28645531	1.00[AMR][1000 genomes]
rs28664638	1.00[AMR][1000 genomes]
rs28677951	1.00[AMR][1000 genomes]
rs28695912	1.00[AMR][1000 genomes]
rs28711283	1.00[AMR][1000 genomes]
rs28727341	1.00[AMR][1000 genomes]
rs3991368	1.00[AMR][1000 genomes]
rs57267837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58167659	1.00[AMR][1000 genomes]
rs58689645	1.00[AMR][1000 genomes]
rs59944002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60159975	1.00[AMR][1000 genomes]
rs60465775	1.00[AMR][1000 genomes]
rs60544586	1.00[AMR][1000 genomes]
rs73439281	1.00[AMR][1000 genomes]
rs73439290	1.00[AMR][1000 genomes]
rs73439302	1.00[AMR][1000 genomes]
rs73442996	1.00[AMR][1000 genomes]
rs73444997	1.00[AMR][1000 genomes]
rs8033538	1.00[AMR][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	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
4	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
6	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
7	nsv904392	chr15:75930757-76039262	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
8	nsv904394	chr15:75948671-76039262	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv904396	chr15:75961518-76071105	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76003800-76006200	Enhancers	NHEK	skin
2	chr15:76004800-76006200	Enhancers	Spleen	Spleen
3	chr15:76005200-76006200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:76005200-76006200	Bivalent Enhancer	Fetal Thymus	thymus
5	chr15:76005200-76006200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr15:76005200-76006400	Enhancers	Fetal Heart	heart
7	chr15:76005200-76006400	Flanking Active TSS	Hela-S3	cervix
8	chr15:76005200-76013400	Weak transcription	Esophagus	oesophagus
9	chr15:76005400-76006200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
10	chr15:76005400-76006200	Flanking Bivalent TSS/Enh	HepG2	liver
11	chr15:76005400-76006400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:76005400-76006400	Enhancers	Liver	Liver
13	chr15:76005400-76006400	Flanking Active TSS	Colon Smooth Muscle	Colon
14	chr15:76005400-76006400	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr15:76005400-76006400	Enhancers	NHDF-Ad	bronchial
16	chr15:76005600-76006200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:76005600-76006200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:76005600-76006200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
19	chr15:76005600-76006200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
20	chr15:76005600-76006200	Bivalent Enhancer	Fetal Stomach	stomach
21	chr15:76005600-76006200	Enhancers	Right Ventricle	heart
22	chr15:76005600-76006200	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr15:76005600-76006200	Enhancers	HSMM	muscle
24	chr15:76005600-76006400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr15:76005600-76006400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:76005600-76006400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:76005600-76006400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:76005600-76006400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:76005600-76006400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr15:76005600-76006400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:76005600-76006400	Enhancers	Gastric	stomach
32	chr15:76005600-76006400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
33	chr15:76005600-76006400	Enhancers	NH-A	brain
34	chr15:76005600-76006600	Enhancers	Fetal Lung	lung
35	chr15:76005600-76010000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:76005600-76010000	Weak transcription	Osteobl	bone
37	chr15:76005600-76016000	Weak transcription	Aorta	Aorta
38	chr15:76005800-76006200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr15:76005800-76006200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:76005800-76006200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr15:76005800-76006200	Enhancers	Fetal Intestine Small	intestine
42	chr15:76005800-76006200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr15:76005800-76006200	Enhancers	Placenta	Placenta
44	chr15:76005800-76006200	Weak transcription	Lung	lung
45	chr15:76005800-76006400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr15:76005800-76006400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:76005800-76006400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:76005800-76006400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
49	chr15:76005800-76006400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:76005800-76006400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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