Variant report

Variant	rs555633681
Chromosome Location	chr15:50979958-50979959
allele	C/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	RCOR1	chr15:50977930-50980006	K562	blood:	n/a	n/a
3	MTA3	chr15:50977773-50980208	GM12878	blood:	n/a	n/a
4	JUN	chr15:50977937-50980506	K562	blood:	n/a	n/a
5	GATA3	chr15:50979709-50980197	SH-SY5Y	brain:	n/a	chr15:50979802-50979809 chr15:50979802-50979809 chr15:50979802-50979809
6	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
7	POLR2A	chr15:50978195-50980053	GM12878	blood:	n/a	n/a
8	BHLHE40	chr15:50979944-50980072	K562	blood:	n/a	n/a
9	MYC	chr15:50978026-50980214	K562	blood:	n/a	chr15:50979048-50979064 chr15:50978996-50979005
10	POLR2A	chr15:50978191-50979977	K562	blood:	n/a	n/a
11	KAP1	chr15:50978014-50980007	HEK293	kidney:	n/a	n/a
12	TBP	chr15:50978175-50980053	K562	blood:	n/a	n/a
13	POLR2A	chr15:50978159-50980009	Raji	blood:	n/a	n/a
14	POLR2A	chr15:50978655-50980051	HCT-116	colon:	n/a	n/a
15	MYC	chr15:50978031-50980670	A549	lung:	n/a	chr15:50979048-50979064 chr15:50978996-50979005
16	GATA2	chr15:50979864-50980156	SH-SY5Y	brain:	n/a	n/a
17	NRF1	chr15:50978155-50980045	SK-N-SH	brain:	n/a	chr15:50979099-50979108 chr15:50979098-50979109 chr15:50979099-50979113 chr15:50978960-50978969 chr15:50979099-50979110 chr15:50979094-50979103 chr15:50979096-50979110
18	HCFC1	chr15:50977853-50980080	Hela-S3	cervix:	n/a	n/a
19	MXI1	chr15:50977692-50980299	SK-N-SH	brain:	n/a	chr15:50979045-50979054
20	POLR2A	chr15:50978148-50980007	GM19099	blood:	n/a	n/a
21	POLR2A	chr15:50977860-50980079	GM12891	blood:	n/a	n/a
22	POLR2A	chr15:50978004-50979975	K562	blood:	n/a	n/a

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:
10	chr15:50977757..50980171-chr22:36876614..36879193,2	MCF-7	breast:

Variant related genes	Relation type
TRPM7	TF binding region
RN7SL354P	TF binding region
ENSG00000100348	Chromatin interaction
ENSG00000081014	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000138600	Chromatin interaction
ENSG00000244879	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50977000-50980200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:50977000-50980400	Active TSS	GM12878-XiMat	blood
3	chr15:50977200-50980000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:50977400-50980400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:50977600-50980000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr15:50977600-50980000	Active TSS	HSMMtube	muscle
7	chr15:50977800-50980200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr15:50977800-50980200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:50979200-50980000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:50979200-50980000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:50979200-50980000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr15:50979200-50980000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr15:50979200-50980000	Flanking Active TSS	HMEC	breast
14	chr15:50979200-50980000	Flanking Active TSS	HUVEC	blood vessel
15	chr15:50979200-50980000	Flanking Active TSS	NHEK	skin
16	chr15:50979200-50980000	Flanking Active TSS	Osteobl	bone
17	chr15:50979200-50980200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:50979400-50980000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr15:50979400-50980000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:50979400-50980000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:50979400-50980000	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr15:50979400-50980000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr15:50979400-50980000	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr15:50979400-50980000	Flanking Active TSS	Fetal Kidney	kidney
25	chr15:50979400-50980000	Flanking Active TSS	Fetal Lung	lung
26	chr15:50979400-50980000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr15:50979400-50980000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr15:50979400-50980200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:50979400-50980200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr15:50979400-50980200	Flanking Active TSS	Liver	Liver
31	chr15:50979400-50980200	Flanking Active TSS	Dnd41	blood
32	chr15:50979600-50980000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr15:50979600-50980000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:50979600-50980000	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr15:50979600-50980000	Flanking Active TSS	Fetal Brain Male	brain
36	chr15:50979600-50980000	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr15:50979600-50980000	Flanking Active TSS	NHLF	lung
38	chr15:50979600-50980200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:50979600-50980200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:50979600-50980200	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr15:50979600-50980200	Flanking Active TSS	Fetal Heart	heart
42	chr15:50979600-50980200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr15:50979600-50980400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr15:50979800-50980000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:50979800-50980000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr15:50979800-50980000	Enhancers	Adipose Nuclei	Adipose
47	chr15:50979800-50980000	Enhancers	Brain Germinal Matrix	brain
48	chr15:50979800-50980000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:50979800-50980000	Enhancers	Colon Smooth Muscle	Colon
50	chr15:50979800-50980000	Enhancers	Pancreatic Islets	Pancreatic Islet

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