Variant report

Variant	rs8041033
Chromosome Location	chr15:75965752-75965753
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	EBF1	chr15:75965643-75965958	GM12878	blood:	n/a	chr15:75965810-75965819 chr15:75965809-75965820 chr15:75965808-75965821 chr15:75965891-75965900 chr15:75965788-75965799 chr15:75965810-75965819 chr15:75965810-75965820
2	RAD21	chr15:75964990-75966135	IMR90	lung:	n/a	chr15:75965695-75965708 chr15:75965433-75965446 chr15:75965449-75965459
3	POLR2A	chr15:75964833-75966169	PANC-1	pancreas:	n/a	n/a
4	CTCF	chr15:75965620-75965770	NB4	blood:	n/a	n/a
5	POLR2A	chr15:75963778-75966547	Hela-S3	cervix:	n/a	n/a
6	TFAP2A	chr15:75965238-75965802	Hela-S3	cervix:	n/a	chr15:75965687-75965697 chr15:75965698-75965708 chr15:75965687-75965697 chr15:75965443-75965458 chr15:75965687-75965697 chr15:75965687-75965697 chr15:75965685-75965699 chr15:75965697-75965708 chr15:75965698-75965710
7	MAZ	chr15:75963794-75966405	IMR90	lung:	n/a	chr15:75966377-75966387 chr15:75966378-75966387 chr15:75966378-75966387 chr15:75965682-75965692 chr15:75966379-75966386
8	POLR2A	chr15:75963541-75966466	U87	brain:	n/a	n/a
9	POLR2A	chr15:75964032-75966447	U87	brain:	n/a	n/a
10	CTCF	chr15:75965640-75965790	HRPEpiC	eye:	n/a	n/a
11	RCOR1	chr15:75965738-75965806	HepG2	liver:	n/a	n/a
12	POLR2A	chr15:75964798-75966630	IMR90	lung:	n/a	n/a
13	POLR2A	chr15:75964885-75966337	PANC-1	pancreas:	n/a	n/a
14	EBF1	chr15:75965646-75965990	GM12878	blood:	n/a	chr15:75965810-75965819 chr15:75965809-75965820 chr15:75965808-75965821 chr15:75965891-75965900 chr15:75965788-75965799 chr15:75965810-75965819 chr15:75965810-75965820
15	POLR2A	chr15:75965395-75965890	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr15:75965740-75965890	GM12873	blood:	n/a	n/a
17	POLR2A	chr15:75965473-75966308	HCT-116	colon:	n/a	n/a
18	CTCF	chr15:75965700-75965850	AG10803	skin:	n/a	n/a
19	POLR2A	chr15:75961392-75968208	U87	brain:	n/a	n/a
20	TFAP2C	chr15:75965108-75965802	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr15:75965685-75966048	HCT-116	colon:	n/a	n/a
22	POLR2A	chr15:75964551-75966130	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr15:75963030-75967116	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75959477..75961684-chr15:75965277..75967362,2	K562	blood:
2	chr15:75742474..75744399-chr15:75965512..75967791,2	K562	blood:
3	chr15:75742002..75744391-chr15:75965188..75968465,3	K562	blood:
4	chr15:75956801..75958310-chr15:75964736..75966304,2	K562	blood:
5	chr15:75965361..75969270-chr15:75970035..75973000,4	K562	blood:
6	chr15:75927186..75935349-chr15:75957229..75967736,17	MCF-7	breast:
7	chr15:75660561..75662117-chr15:75964805..75967036,2	MCF-7	breast:
8	chr15:75937430..75939214-chr15:75963572..75966390,2	MCF-7	breast:
9	chr15:75951981..75955869-chr15:75961912..75967583,8	MCF-7	breast:
10	chr15:75952729..75955178-chr15:75965202..75967064,2	K562	blood:
11	chr15:75744190..75746911-chr15:75963679..75965801,2	MCF-7	breast:
12	chr15:75659386..75661885-chr15:75964274..75966249,2	K562	blood:
13	chr15:75961153..75963477-chr15:75964870..75966671,2	K562	blood:
14	chr15:75953678..75955508-chr15:75964203..75966702,2	K562	blood:

Variant related genes	Relation type
ENSG00000260892	TF binding region
ENSG00000203392	TF binding region
ENSG00000177971	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000140400	Chromatin interaction
ENSG00000260206	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000203392	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12592229	1.00[ASN][1000 genomes]
rs13329632	1.00[CEU][hapmap]
rs28695645	1.00[CEU][hapmap]
rs4886454	0.94[ASN][1000 genomes]
rs4886730	0.96[ASN][1000 genomes]
rs61754538	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72732862	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73441010	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8028183	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8031394	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
6	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
7	esv1813854	chr15:75898640-76002392	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	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
9	nsv904391	chr15:75930757-76001654	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	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
11	nsv904393	chr15:75932177-76001654	Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
12	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
13	nsv904395	chr15:75957928-75984095	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
14	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
15	nsv569997	chr15:75965169-75991451	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75953000-75969600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:75956200-75966400	Enhancers	HMEC	breast
3	chr15:75956600-75967000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:75957800-75967200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr15:75958200-75967200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:75958400-75967000	Enhancers	Fetal Muscle Leg	muscle
7	chr15:75959400-75967600	Weak transcription	Liver	Liver
8	chr15:75960200-75966200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr15:75961000-75968200	Enhancers	NHDF-Ad	bronchial
10	chr15:75961200-75966600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:75962400-75968600	Enhancers	Adipose Nuclei	Adipose
12	chr15:75962400-75968800	Enhancers	Right Ventricle	heart
13	chr15:75962400-75969000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr15:75962800-75966000	Enhancers	Lung	lung
15	chr15:75962800-75966200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:75963200-75968400	Enhancers	Placenta	Placenta
17	chr15:75963400-75968000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:75963600-75966000	Enhancers	Gastric	stomach
19	chr15:75963800-75967000	Enhancers	Esophagus	oesophagus
20	chr15:75963800-75968200	Enhancers	Left Ventricle	heart
21	chr15:75964000-75965800	Enhancers	Spleen	Spleen
22	chr15:75964000-75966000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:75964000-75966200	Enhancers	Pancreas	Pancrea
24	chr15:75964000-75966600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:75964000-75967000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr15:75964000-75967400	Enhancers	Fetal Heart	heart
27	chr15:75964200-75966200	Enhancers	NHEK	skin
28	chr15:75964200-75966400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr15:75964200-75967000	Enhancers	Fetal Stomach	stomach
30	chr15:75964200-75968600	Enhancers	Ovary	ovary
31	chr15:75964200-75969200	Enhancers	Right Atrium	heart
32	chr15:75964400-75966000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr15:75964400-75966200	Enhancers	Fetal Intestine Small	intestine
34	chr15:75964400-75966400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:75964400-75966600	Enhancers	Fetal Intestine Large	intestine
36	chr15:75964400-75966800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:75964600-75965800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:75964600-75965800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr15:75964600-75965800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:75964600-75966000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr15:75964600-75966000	Enhancers	A549	lung
42	chr15:75964600-75966200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:75964600-75966400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr15:75964600-75966600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr15:75964600-75966800	Enhancers	Stomach Mucosa	stomach
46	chr15:75964800-75966000	Enhancers	K562	blood
47	chr15:75964800-75966600	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr15:75964800-75966600	Enhancers	HSMMtube	muscle
49	chr15:75964800-75966800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:75964800-75966800	Enhancers	Brain Cingulate Gyrus	brain

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