Variant report

Variant	rs28486675
Chromosome Location	chr15:44781792-44781793
allele	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	GATA3	chr15:44781567-44782163	SK-N-SH	brain:	n/a	n/a
2	FOS	chr15:44781684-44782063	MCF10A-Er-Src	breast:	n/a	chr15:44781857-44781868 chr15:44781869-44781880
3	FOS	chr15:44781639-44782118	HUVEC	blood vessel:	n/a	chr15:44781857-44781868 chr15:44781869-44781880
4	JUN	chr15:44781415-44782249	K562	blood:	n/a	chr15:44781878-44781891
5	JUN	chr15:44781664-44782035	K562	blood:	n/a	chr15:44781878-44781891
6	GATA3	chr15:44781446-44782229	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr15:44781491-44782255	SK-N-SH	brain:	n/a	n/a
8	FOSL2	chr15:44781652-44782032	MCF-7	breast:	n/a	n/a
9	FOSL2	chr15:44781521-44782154	SK-N-SH	brain:	n/a	n/a
10	FOS	chr15:44781598-44782060	MCF10A-Er-Src	breast:	n/a	chr15:44781857-44781868 chr15:44781869-44781880
11	FOSL2	chr15:44781688-44782017	A549	lung:	n/a	n/a
12	EP300	chr15:44781708-44782091	Hela-S3	cervix:	n/a	n/a
13	FOSL1	chr15:44781715-44781929	K562	blood:	n/a	chr15:44781857-44781868
14	PBX3	chr15:44781521-44782254	SK-N-SH	brain:	n/a	n/a
15	RXRA	chr15:44781554-44782196	SK-N-SH	brain:	n/a	n/a
16	JUND	chr15:44781600-44782189	SK-N-SH	brain:	n/a	chr15:44781857-44781868 chr15:44781869-44781880
17	POLR2A	chr15:44781626-44782109	SK-N-SH	brain:	n/a	n/a
18	JUND	chr15:44781555-44782121	HCT-116	colon:	n/a	chr15:44781857-44781868 chr15:44781869-44781880
19	FOSL1	chr15:44781554-44782141	HCT-116	colon:	n/a	chr15:44781857-44781868
20	FOS	chr15:44781666-44782123	MCF10A-Er-Src	breast:	n/a	chr15:44781857-44781868 chr15:44781869-44781880
21	JUN	chr15:44781689-44782055	HUVEC	blood vessel:	n/a	chr15:44781878-44781891
22	STAT3	chr15:44781712-44781979	MCF10A-Er-Src	breast:	n/a	n/a
23	PBX3	chr15:44781594-44782102	SK-N-SH	brain:	n/a	n/a
24	JUN	chr15:44781683-44782076	Hela-S3	cervix:	n/a	chr15:44781878-44781891
25	JUND	chr15:44781499-44782177	HCT-116	colon:	n/a	chr15:44781857-44781868 chr15:44781869-44781880
26	MYC	chr15:44781753-44782003	MCF10A-Er-Src	breast:	n/a	n/a
27	TCF12	chr15:44781522-44782199	SK-N-SH	brain:	n/a	n/a
28	FOSL1	chr15:44781636-44782124	HCT-116	colon:	n/a	chr15:44781857-44781868
29	FOS	chr15:44781685-44782048	Hela-S3	cervix:	n/a	chr15:44781857-44781868 chr15:44781869-44781880
30	FOSL2	chr15:44781591-44782161	A549	lung:	n/a	n/a
31	JUND	chr15:44781690-44782040	HepG2	liver:	n/a	chr15:44781857-44781868 chr15:44781869-44781880
32	EP300	chr15:44781710-44782011	SK-N-SH_RA	brain:	n/a	n/a
33	JUN	chr15:44781676-44782093	K562	blood:	n/a	chr15:44781878-44781891
34	FOS	chr15:44781606-44782067	MCF10A-Er-Src	breast:	n/a	chr15:44781857-44781868 chr15:44781869-44781880
35	JUND	chr15:44781501-44782229	SK-N-SH	brain:	n/a	chr15:44781857-44781868 chr15:44781869-44781880
36	JUND	chr15:44781615-44782061	K562	blood:	n/a	chr15:44781857-44781868 chr15:44781869-44781880
37	JUND	chr15:44781625-44782213	Hela-S3	cervix:	n/a	chr15:44781857-44781868 chr15:44781869-44781880
38	JUN	chr15:44781734-44782005	HepG2	liver:	n/a	chr15:44781878-44781891
39	JUN	chr15:44781668-44782016	K562	blood:	n/a	chr15:44781878-44781891
40	ATF1	chr15:44781745-44782005	K562	blood:	n/a	n/a
41	FOSL2	chr15:44781591-44782090	SK-N-SH	brain:	n/a	n/a
42	JUND	chr15:44781444-44783216	SK-N-SH	brain:	n/a	chr15:44781857-44781868 chr15:44781869-44781880

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44770975..44773233-chr15:44779682..44782235,2	K562	blood:
2	chr15:44776722..44779562-chr15:44780236..44783124,2	K562	blood:

Variant related genes	Relation type
CTDSPL2	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11070426	0.85[TSI][hapmap]
rs11070431	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11634253	0.87[EUR][1000 genomes]
rs11636363	1.00[CEU][hapmap]
rs12148618	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs28409610	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs28458328	0.90[EUR][1000 genomes]
rs28661212	0.97[EUR][1000 genomes]
rs961163	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak 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	154 gene(s)	inside rSNPs	diseases
3	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:44740600-44795600	Weak transcription	Esophagus	oesophagus
3	chr15:44740600-44824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:44741000-44783800	Weak transcription	Right Ventricle	heart
5	chr15:44750000-44827400	Weak transcription	Pancreas	Pancrea
6	chr15:44750200-44828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:44750400-44782800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:44751000-44795400	Weak transcription	Stomach Mucosa	stomach
9	chr15:44754600-44816200	Weak transcription	Brain Angular Gyrus	brain
10	chr15:44757000-44827400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:44761600-44789800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:44773400-44791800	Weak transcription	Right Atrium	heart
13	chr15:44774000-44800400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:44775800-44820200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:44776000-44782200	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:44776000-44785800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr15:44776000-44786800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:44776000-44793200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr15:44776200-44784200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr15:44776200-44786600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:44776200-44792200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:44776200-44792600	Strong transcription	Fetal Thymus	thymus
23	chr15:44776200-44793400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:44776200-44801400	Strong transcription	Dnd41	blood
25	chr15:44776400-44784600	Strong transcription	Adipose Nuclei	Adipose
26	chr15:44776400-44787000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:44776400-44791800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:44776600-44786600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr15:44776600-44793000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:44776600-44793400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr15:44776600-44793600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:44777000-44789200	Weak transcription	Colonic Mucosa	Colon
33	chr15:44777000-44792800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr15:44777200-44784200	Strong transcription	Liver	Liver
35	chr15:44777200-44785600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr15:44777200-44803800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:44777400-44785800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr15:44777600-44781800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:44777600-44785600	Strong transcription	Primary B cells from cord blood	blood
40	chr15:44777600-44801800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr15:44778000-44827800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr15:44778000-44827800	Weak transcription	Psoas Muscle	Psoas
43	chr15:44778800-44784400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:44778800-44785000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:44779000-44784000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:44779000-44784000	Strong transcription	Placenta	Placenta
47	chr15:44779000-44784400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:44779000-44784600	Strong transcription	Fetal Muscle Leg	muscle
49	chr15:44779000-44785600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:44779000-44785600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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