Variant report

Variant	rs73381335
Chromosome Location	chr15:31195599-31195600
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	POLR2A	chr15:31195598-31196589	HepG2	liver:	n/a	n/a
2	IRF4	chr15:31195573-31196237	GM12878	blood:	n/a	n/a
3	GATA3	chr15:31195592-31196462	A549	lung:	n/a	chr15:31195987-31195997 chr15:31195601-31195608 chr15:31195688-31195695
4	POLR2A	chr15:31195579-31196440	ECC-1	luminal epithelium:	n/a	n/a
5	SIN3AK20	chr15:31195585-31196479	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr15:31195599-31196349	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:31195598-31196539	PBDE	blood:	n/a	n/a
8	MTA3	chr15:31195570-31196419	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:31195578-31196490	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr15:31195556-31196620	GM12891	blood:	n/a	n/a
11	SIN3AK20	chr15:31195581-31196276	H1-hESC	embryonic stem cell:	n/a	n/a
12	SP1	chr15:31195578-31196404	A549	lung:	n/a	n/a
13	POLR2A	chr15:31195591-31196520	MCF-7	breast:	n/a	n/a
14	POLR2A	chr15:31195597-31196781	MCF10A-Er-Src	breast:	n/a	n/a
15	CHD1	chr15:31195551-31196718	GM12878	blood:	n/a	n/a
16	HCFC1	chr15:31195534-31196389	K562	blood:	n/a	n/a
17	HEY1	chr15:31195583-31196373	HepG2	liver:	n/a	chr15:31196246-31196261 chr15:31196306-31196321
18	POLR2A	chr15:31195599-31196451	ECC-1	luminal epithelium:	n/a	n/a
19	MYC	chr15:31195592-31196359	MCF10A-Er-Src	breast:	n/a	n/a
20	MTA3	chr15:31195507-31196263	GM12878	blood:	n/a	n/a
21	MYC	chr15:31195517-31196701	H1-hESC	embryonic stem cell:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
22	EGR1	chr15:31195427-31196321	HCT-116	colon:	n/a	chr15:31195859-31195873 chr15:31195859-31195872 chr15:31196071-31196080 chr15:31195859-31195872 chr15:31196104-31196114 chr15:31196260-31196270 chr15:31195861-31195871 chr15:31195862-31195871 chr15:31195855-31195877 chr15:31195858-31195873 chr15:31195859-31195872 chr15:31195860-31195871 chr15:31196309-31196318 chr15:31195861-31195871 chr15:31195859-31195872
23	MXI1	chr15:31195503-31196652	Hela-S3	cervix:	n/a	n/a
24	MAX	chr15:31195582-31196520	K562	blood:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
25	MYC	chr15:31195574-31196502	K562	blood:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
26	MAX	chr15:31195558-31196540	K562	blood:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
27	CHD1	chr15:31195466-31196460	H1-hESC	embryonic stem cell:	n/a	n/a
28	TBP	chr15:31195587-31196255	GM12878	blood:	n/a	n/a
29	MXI1	chr15:31195556-31196712	GM12878	blood:	n/a	n/a
30	EGR1	chr15:31195576-31196264	ECC-1	luminal epithelium:	n/a	chr15:31195859-31195873 chr15:31195859-31195872 chr15:31196071-31196080 chr15:31195859-31195872 chr15:31196104-31196114 chr15:31195861-31195871 chr15:31195862-31195871 chr15:31195855-31195877 chr15:31195858-31195873 chr15:31195859-31195872 chr15:31195860-31195871 chr15:31195861-31195871 chr15:31195859-31195872
31	MXI1	chr15:31195238-31197032	SK-N-SH	brain:	n/a	n/a
32	EP300	chr15:31195482-31196224	GM12878	blood:	n/a	chr15:31196075-31196091
33	TBP	chr15:31195526-31196269	K562	blood:	n/a	n/a
34	POLR2A	chr15:31195577-31196377	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr15:31195475-31196494	PFSK-1	brain:	n/a	n/a
36	GABPA	chr15:31195594-31196267	MCF-7	breast:	n/a	chr15:31196077-31196086
37	HCFC1	chr15:31195436-31196885	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr15:31195572-31196325	Hela-S3	cervix:	n/a	n/a
39	ETS1	chr15:31195568-31196341	A549	lung:	n/a	n/a
40	MAX	chr15:31195512-31196577	H1-hESC	embryonic stem cell:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
41	TAF1	chr15:31195580-31196486	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr15:31195585-31196406	H1-hESC	embryonic stem cell:	n/a	n/a
43	KAP1	chr15:31195566-31196309	HEK293	kidney:	n/a	chr15:31195851-31195859
44	MAX	chr15:31195524-31196432	HCT-116	colon:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
45	EGR1	chr15:31195458-31196336	HCT-116	colon:	n/a	chr15:31195859-31195873 chr15:31195859-31195872 chr15:31196071-31196080 chr15:31195859-31195872 chr15:31196104-31196114 chr15:31196260-31196270 chr15:31195861-31195871 chr15:31195862-31195871 chr15:31195855-31195877 chr15:31195858-31195873 chr15:31195859-31195872 chr15:31195860-31195871 chr15:31196309-31196318 chr15:31195861-31195871 chr15:31195859-31195872
46	PAX5	chr15:31195528-31196372	GM12878	blood:	n/a	chr15:31196309-31196318 chr15:31196071-31196080
47	REST	chr15:31195366-31196785	H1-neurons	neurons:	n/a	chr15:31195886-31195899 chr15:31196251-31196265 chr15:31196317-31196330 chr15:31196081-31196094
48	POLR2A	chr15:31195561-31196397	GM12892	blood:	n/a	n/a
49	MAX	chr15:31195453-31196706	ECC-1	luminal epithelium:	n/a	chr15:31196377-31196387 chr15:31196378-31196387
50	SIN3A	chr15:31195523-31196720	H1-hESC	embryonic stem cell:	n/a	chr15:31196250-31196264 chr15:31196317-31196330 chr15:31196257-31196270

No.	Distal block	Cell Line	Cell type
1	chr15:31195507..31196434-chr2:85132546..85133149,2	Hela-S3	cervix:
2	chr15:31194465..31197297-chr15:31282167..31285499,3	K562	blood:
3	chr15:31194962..31197804-chr15:31219595..31222456,2	K562	blood:
4	chr15:31194360..31196709-chr15:31282391..31284386,2	MCF-7	breast:

Variant related genes	Relation type
FAN1	TF binding region
ENSG00000198690	Chromatin interaction
ENSG00000034510	Chromatin interaction
ENSG00000166912	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11855516	1.00[AMR][1000 genomes]
rs11856775	1.00[AMR][1000 genomes]
rs11858651	1.00[AMR][1000 genomes]
rs11858680	1.00[AMR][1000 genomes]
rs2625800	1.00[AMR][1000 genomes]
rs28583796	1.00[AMR][1000 genomes]
rs28607120	1.00[AMR][1000 genomes]
rs28623378	1.00[AMR][1000 genomes]
rs28770770	1.00[AMR][1000 genomes]
rs28809782	1.00[AMR][1000 genomes]
rs55749458	1.00[AMR][1000 genomes]
rs55873234	1.00[AMR][1000 genomes]
rs55896057	1.00[AMR][1000 genomes]
rs56310450	1.00[AMR][1000 genomes]
rs56364319	0.98[AFR][1000 genomes]
rs56408018	1.00[AMR][1000 genomes]
rs57499412	1.00[AMR][1000 genomes]
rs57551901	1.00[AMR][1000 genomes]
rs57661317	1.00[AMR][1000 genomes]
rs57807297	0.98[AFR][1000 genomes]
rs58522856	1.00[AMR][1000 genomes]
rs59803232	1.00[AMR][1000 genomes]
rs60002525	1.00[AMR][1000 genomes]
rs60084176	1.00[AMR][1000 genomes]
rs60718659	1.00[AMR][1000 genomes]
rs60719098	0.94[AFR][1000 genomes]
rs60765564	1.00[AMR][1000 genomes]
rs61009284	1.00[AMR][1000 genomes]
rs61080715	1.00[AMR][1000 genomes]
rs61439612	1.00[AMR][1000 genomes]
rs61528441	1.00[AMR][1000 genomes]
rs61599827	1.00[AMR][1000 genomes]
rs61701824	1.00[AMR][1000 genomes]
rs7163814	1.00[AMR][1000 genomes]
rs7165699	1.00[AMR][1000 genomes]
rs7169444	1.00[AMR][1000 genomes]
rs7169542	1.00[AMR][1000 genomes]
rs7170006	1.00[AMR][1000 genomes]
rs7171389	0.98[AFR][1000 genomes]
rs7175397	1.00[AMR][1000 genomes]
rs7176959	1.00[AMR][1000 genomes]
rs7182086	1.00[AMR][1000 genomes]
rs7182655	1.00[AMR][1000 genomes]
rs73366503	1.00[AMR][1000 genomes]
rs73366549	1.00[AMR][1000 genomes]
rs73366561	1.00[AMR][1000 genomes]
rs73366569	1.00[AMR][1000 genomes]
rs73366598	1.00[AMR][1000 genomes]
rs73368419	1.00[AMR][1000 genomes]
rs73368457	1.00[AMR][1000 genomes]
rs73377254	1.00[AMR][1000 genomes]
rs73377277	1.00[AMR][1000 genomes]
rs73377279	1.00[AMR][1000 genomes]
rs73377286	1.00[AMR][1000 genomes]
rs73377300	1.00[AMR][1000 genomes]
rs73379134	1.00[AMR][1000 genomes]
rs73379138	1.00[AMR][1000 genomes]
rs73379150	1.00[AMR][1000 genomes]
rs73379190	1.00[AMR][1000 genomes]
rs73381337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73381339	1.00[AMR][1000 genomes]
rs73381340	0.98[AFR][1000 genomes]
rs73381351	1.00[AMR][1000 genomes]
rs73381353	0.98[AFR][1000 genomes]
rs73381362	0.94[AFR][1000 genomes]
rs73381363	1.00[AMR][1000 genomes]
rs74008929	1.00[AMR][1000 genomes]
rs74008931	1.00[AMR][1000 genomes]
rs74009242	1.00[AMR][1000 genomes]
rs74012716	1.00[AMR][1000 genomes]
rs8023403	0.98[AFR][1000 genomes]
rs8024086	0.98[AFR][1000 genomes]
rs8028459	1.00[AMR][1000 genomes]
rs8029314	1.00[AMR][1000 genomes]
rs8033175	1.00[AMR][1000 genomes]
rs8041411	1.00[AMR][1000 genomes]
rs8042198	1.00[AMR][1000 genomes]
rs8043076	1.00[AMR][1000 genomes]
rs9783686	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427955	chr15:30467980-31273174	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv916936	chr15:30921917-31337510	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv525795	chr15:30936285-31324531	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv533434	chr15:30938215-31244225	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
7	nsv1046874	chr15:31008133-31294654	Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
10	nsv832951	chr15:31131239-31304469	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1039037	chr15:31140415-31277268	Strong transcription ZNF genes & repeats Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv542309	chr15:31140415-31277268	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv521842	chr15:31140700-31272670	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv903834	chr15:31179534-31293774	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	esv33507	chr15:31183324-31471023	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers 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	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31132800-31195600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:31187000-31195600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:31194000-31195600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:31195000-31195600	Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr15:31195000-31195600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr15:31195000-31195600	Enhancers	Pancreas	Pancrea
7	chr15:31195000-31195800	Flanking Active TSS	Dnd41	blood
8	chr15:31195000-31196600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:31195000-31196600	Active TSS	A549	lung
10	chr15:31195000-31196800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:31195000-31196800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr15:31195000-31196800	Active TSS	Rectal Smooth Muscle	rectum
13	chr15:31195200-31196400	Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr15:31195200-31196400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:31195200-31196800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:31195400-31195600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:31195400-31195600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:31195400-31195600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr15:31195400-31195600	Active TSS	Primary B cells from cord blood	blood
20	chr15:31195400-31195600	Active TSS	Primary hematopoietic stem cells	blood
21	chr15:31195400-31195600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr15:31195400-31195600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr15:31195400-31195600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:31195400-31195600	Active TSS	Fetal Brain Male	brain
25	chr15:31195400-31195600	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr15:31195400-31195600	Active TSS	HMEC	breast
27	chr15:31195400-31195600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr15:31195400-31195800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr15:31195400-31195800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:31195400-31196000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr15:31195400-31196000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:31195400-31196000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:31195400-31196400	Active TSS	Primary B cells from peripheral blood	blood
34	chr15:31195400-31196400	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr15:31195400-31196400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr15:31195400-31196400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:31195400-31196400	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr15:31195400-31196400	Active TSS	Adipose Nuclei	Adipose
39	chr15:31195400-31196400	Active TSS	Liver	Liver
40	chr15:31195400-31196400	Active TSS	Brain Anterior Caudate	brain
41	chr15:31195400-31196400	Active TSS	Brain Germinal Matrix	brain
42	chr15:31195400-31196400	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr15:31195400-31196400	Active TSS	Duodenum Mucosa	Duodenum
44	chr15:31195400-31196400	Active TSS	Fetal Brain Female	brain
45	chr15:31195400-31196400	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr15:31195400-31196400	Active TSS	Stomach Smooth Muscle	stomach
47	chr15:31195400-31196400	Active TSS	Thymus	Thymus
48	chr15:31195400-31196400	Active TSS	HUVEC	blood vessel
49	chr15:31195400-31196400	Active TSS	Osteobl	bone
50	chr15:31195400-31196600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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