Variant report

Variant	rs78847546
Chromosome Location	chr15:50980230-50980231
allele	A/C/G/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	SIN3AK20	chr15:50977466-50980443	MCF-7	breast:	n/a	n/a
2	JUN	chr15:50977937-50980506	K562	blood:	n/a	n/a
3	GATA1	chr15:50978050-50980335	PBDE	blood:	n/a	chr15:50979653-50979661 chr15:50979802-50979809 chr15:50979802-50979809 chr15:50978324-50978333 chr15:50978323-50978333 chr15:50979349-50979360 chr15:50978325-50978342 chr15:50979689-50979696 chr15:50978324-50978331 chr15:50979802-50979809 chr15:50978322-50978334 chr15:50979686-50979696
4	ZNF384	chr15:50980011-50980232	K562	blood:	n/a	n/a
5	MYC	chr15:50978031-50980670	A549	lung:	n/a	chr15:50979048-50979064 chr15:50978996-50979005
6	MXI1	chr15:50977692-50980299	SK-N-SH	brain:	n/a	chr15:50979045-50979054

No.	Distal block	Cell Line	Cell type
1	chr15:50977419..50980911-chr15:51055926..51058477,4	K562	blood:
2	chr15:50977828..50980537-chr15:51197788..51202411,5	MCF-7	breast:
3	chr15:50977319..50980700-chr15:51053372..51060901,7	MCF-7	breast:
4	chr15:50976295..50981465-chr15:51052766..51059546,15	MCF-7	breast:
5	chr15:50978732..50980573-chr15:51017236..51021857,4	K562	blood:
6	chr15:50645819..50647987-chr15:50977616..50981646,3	MCF-7	breast:
7	chr15:50979172..50980839-chr15:51122039..51124259,2	MCF-7	breast:
8	chr15:50645260..50648664-chr15:50977679..50981268,7	MCF-7	breast:
9	chr15:50977199..50981459-chr15:51198510..51202863,6	K562	blood:

Variant related genes	Relation type
RN7SL354P	TF binding region
TRPM7	TF binding region
ENSG00000138600	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000081014	Chromatin interaction
ENSG00000104064	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
7	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv1051990	chr15:50745814-51133186	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
9	nsv1054970	chr15:50761410-51036625	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' 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
10	nsv457134	chr15:50770868-51184583	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv471242	chr15:50770868-51184583	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv569396	chr15:50770868-51184583	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
13	nsv457135	chr15:50770868-51189707	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv569397	chr15:50770868-51189707	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
15	nsv1048621	chr15:50775451-51115535	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv1047039	chr15:50782070-51187804	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
17	nsv542385	chr15:50782070-51187804	Weak transcription Enhancers Strong transcription Active TSS 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 target site	54 gene(s)	inside rSNPs	diseases
18	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
19	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
20	nsv1036081	chr15:50818569-51097229	Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
21	nsv1055112	chr15:50822035-51133186	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
22	nsv1042372	chr15:50846461-51208891	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
23	nsv542386	chr15:50846461-51208891	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
24	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
25	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
26	nsv1051400	chr15:50890333-51046283	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
27	nsv904212	chr15:50979738-51132170	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50977000-50980400	Active TSS	GM12878-XiMat	blood
2	chr15:50977400-50980400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:50979600-50980400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr15:50979800-50980400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:50979800-50980400	Enhancers	Primary B cells from peripheral blood	blood
6	chr15:50979800-50980400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr15:50979800-50980400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:50979800-50980400	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr15:50979800-50980400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr15:50979800-50980400	Enhancers	Fetal Intestine Small	intestine
11	chr15:50979800-50980400	Enhancers	Fetal Thymus	thymus
12	chr15:50979800-50980400	Enhancers	Hela-S3	cervix
13	chr15:50979800-50980400	Flanking Active TSS	K562	blood
14	chr15:50979800-50980600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr15:50979800-50980600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr15:50979800-50980600	Enhancers	HepG2	liver
17	chr15:50979800-50980800	Weak transcription	Primary B cells from cord blood	blood
18	chr15:50979800-50981200	Weak transcription	Placenta	Placenta
19	chr15:50979800-50987200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:50979800-51014000	Weak transcription	Right Ventricle	heart
21	chr15:50980000-50980400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr15:50980000-50980400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:50980000-50980400	Enhancers	Duodenum Mucosa	Duodenum
24	chr15:50980000-50980400	Enhancers	Fetal Lung	lung
25	chr15:50980000-50980400	Flanking Active TSS	A549	lung
26	chr15:50980000-50980400	Enhancers	HSMMtube	muscle
27	chr15:50980000-50980400	Enhancers	NHEK	skin
28	chr15:50980000-50980400	Enhancers	Osteobl	bone
29	chr15:50980000-50980600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr15:50980000-50980600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:50980000-50980600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr15:50980000-50980600	Enhancers	HMEC	breast
33	chr15:50980000-50998600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr15:50980200-50980400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:50980200-50980400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr15:50980200-50980400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:50980200-50980400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:50980200-50980400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:50980200-50980400	Active TSS	Brain Cingulate Gyrus	brain
40	chr15:50980200-50980400	Enhancers	Fetal Heart	heart
41	chr15:50980200-50980400	Enhancers	Dnd41	blood
42	chr15:50980200-50980600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:50980200-50980800	Enhancers	Liver	Liver
44	chr15:50980200-50981400	Weak transcription	Primary T cells from cord blood	blood
45	chr15:50980200-50991600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr15:50980200-50996200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:50980200-51006600	Weak transcription	Fetal Stomach	stomach

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