Variant report

Variant	rs626808
Chromosome Location	chr15:45934154-45934155
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	TCF12	chr15:45932662-45934664	A549	lung:	n/a	n/a
2	STAT3	chr15:45933548-45934821	MCF10A-Er-Src	breast:	n/a	chr15:45933849-45933857 chr15:45933976-45933984
3	POLR2A	chr15:45932693-45934852	MCF10A-Er-Src	breast:	n/a	n/a
4	ARID3A	chr15:45933053-45934166	HepG2	liver:	n/a	n/a
5	EP300	chr15:45933523-45934204	SK-N-SH	brain:	n/a	n/a
6	EP300	chr15:45933310-45934179	A549	lung:	n/a	n/a
7	NFIC	chr15:45933511-45934165	SK-N-SH	brain:	n/a	n/a
8	MAX	chr15:45933358-45934176	A549	lung:	n/a	n/a
9	STAT3	chr15:45933456-45934890	MCF10A-Er-Src	breast:	n/a	chr15:45933849-45933857 chr15:45933976-45933984 chr15:45933545-45933553
10	FOS	chr15:45932745-45934821	MCF10A-Er-Src	breast:	n/a	chr15:45933034-45933043 chr15:45933036-45933043 chr15:45933652-45933660 chr15:45933651-45933661 chr15:45933651-45933661 chr15:45933034-45933044 chr15:45933033-45933044 chr15:45933651-45933661 chr15:45933651-45933661 chr15:45933033-45933044 chr15:45933031-45933042
11	FOS	chr15:45932705-45934919	MCF10A-Er-Src	breast:	n/a	chr15:45933034-45933043 chr15:45933036-45933043 chr15:45933652-45933660 chr15:45933651-45933661 chr15:45933651-45933661 chr15:45933034-45933044 chr15:45933033-45933044 chr15:45933651-45933661 chr15:45933651-45933661 chr15:45933033-45933044 chr15:45933031-45933042
12	STAT3	chr15:45933454-45934929	MCF10A-Er-Src	breast:	n/a	chr15:45933849-45933857 chr15:45933976-45933984 chr15:45933545-45933553
13	SP1	chr15:45933270-45934244	A549	lung:	n/a	n/a
14	FOS	chr15:45932668-45934971	MCF10A-Er-Src	breast:	n/a	chr15:45933034-45933043 chr15:45933036-45933043 chr15:45933652-45933660 chr15:45933651-45933661 chr15:45933651-45933661 chr15:45933034-45933044 chr15:45933033-45933044 chr15:45933651-45933661 chr15:45933651-45933661 chr15:45933033-45933044 chr15:45933031-45933042
15	STAT3	chr15:45932629-45934910	MCF10A-Er-Src	breast:	n/a	chr15:45933849-45933857 chr15:45933314-45933323 chr15:45933976-45933984 chr15:45933087-45933098 chr15:45933313-45933322 chr15:45933545-45933553
16	FOXA2	chr15:45933468-45934177	A549	lung:	n/a	chr15:45933787-45933799
17	POLR2A	chr15:45932657-45934590	MCF10A-Er-Src	breast:	n/a	n/a
18	FOSL2	chr15:45932624-45934799	A549	lung:	n/a	chr15:45933034-45933043 chr15:45933649-45933660 chr15:45933036-45933043 chr15:45933652-45933660 chr15:45933651-45933661 chr15:45933651-45933661 chr15:45933034-45933044 chr15:45933033-45933044 chr15:45933651-45933661 chr15:45933651-45933661 chr15:45933031-45933042
19	SP1	chr15:45933347-45934218	A549	lung:	n/a	n/a
20	TEAD4	chr15:45933469-45934185	A549	lung:	n/a	n/a
21	MAZ	chr15:45933473-45934236	HepG2	liver:	n/a	n/a
22	MAFF	chr15:45933683-45934643	HepG2	liver:	n/a	n/a
23	GATA3	chr15:45932707-45934225	A549	lung:	n/a	chr15:45933653-45933662
24	REST	chr15:45933444-45934195	A549	lung:	n/a	n/a
25	MAFK	chr15:45933776-45934440	HepG2	liver:	n/a	n/a
26	MAFK	chr15:45933956-45934744	HepG2	liver:	n/a	n/a
27	CEBPB	chr15:45933352-45934239	A549	lung:	n/a	chr15:45933772-45933785 chr15:45933772-45933783
28	MAFK	chr15:45933700-45934710	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:45933052..45935436-chr15:45937380..45939217,2	K562	blood:
2	chr15:45931689..45934379-chr15:45936432..45937938,2	MCF-7	breast:
3	chr15:45932766..45934482-chr15:45951327..45953164,2	MCF-7	breast:
4	chr15:45933273..45936098-chr15:48986463..48988127,2	MCF-7	breast:

Variant related genes	Relation type
SQRDL	TF binding region
ENSG00000137767	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1816804	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2083729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2099880	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470114	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4270120	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4271550	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs593126	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs607541	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607594	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs629466	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs629880	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs636910	0.80[YRI][hapmap]
rs642328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs643190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs644493	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs673208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs673555	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs673596	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs675413	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs675876	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs675890	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs688967	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74009656	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74009657	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8036075	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8036651	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv904190	chr15:45892672-45960897	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	n/a
4	nsv904191	chr15:45902779-46381874	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45927800-45935400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr15:45928200-45934200	Weak transcription	Ovary	ovary
3	chr15:45929000-45939000	Enhancers	Stomach Mucosa	stomach
4	chr15:45930000-45934200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:45930000-45937800	Weak transcription	Right Ventricle	heart
6	chr15:45930200-45934200	Weak transcription	Brain Anterior Caudate	brain
7	chr15:45930200-45935800	Enhancers	Fetal Intestine Large	intestine
8	chr15:45930400-45935200	Enhancers	Colon Smooth Muscle	Colon
9	chr15:45930400-45935400	Enhancers	Fetal Intestine Small	intestine
10	chr15:45930400-45936800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:45930400-45940800	Weak transcription	Fetal Thymus	thymus
12	chr15:45930600-45934200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:45930600-45934200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:45930600-45934200	Enhancers	Colonic Mucosa	Colon
15	chr15:45930600-45934800	Enhancers	Small Intestine	intestine
16	chr15:45930600-45940800	Weak transcription	Thymus	Thymus
17	chr15:45930800-45936800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr15:45931000-45936600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:45931000-45938800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr15:45931200-45934200	Weak transcription	Lung	lung
21	chr15:45931600-45936600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr15:45931800-45934200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:45931800-45934200	Weak transcription	Aorta	Aorta
24	chr15:45932000-45934200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr15:45932000-45934600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr15:45932200-45935200	Enhancers	HSMM	muscle
27	chr15:45932200-45935400	Enhancers	Psoas Muscle	Psoas
28	chr15:45932200-45935600	Enhancers	Pancreas	Pancrea
29	chr15:45932400-45935000	Enhancers	Duodenum Mucosa	Duodenum
30	chr15:45932400-45935000	Enhancers	HSMMtube	muscle
31	chr15:45932400-45935000	Enhancers	NH-A	brain
32	chr15:45932400-45935200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr15:45932400-45935200	Enhancers	HUVEC	blood vessel
34	chr15:45932600-45934200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:45932600-45934800	Enhancers	Left Ventricle	heart
36	chr15:45932600-45934800	Enhancers	Right Atrium	heart
37	chr15:45932600-45935000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr15:45932600-45935000	Enhancers	Fetal Stomach	stomach
39	chr15:45932600-45935200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr15:45932800-45935400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr15:45932800-45936600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr15:45933000-45934400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr15:45933000-45934600	Flanking Active TSS	Osteobl	bone
44	chr15:45933000-45935000	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr15:45933000-45935200	Enhancers	Fetal Muscle Leg	muscle
46	chr15:45933200-45934200	Weak transcription	Esophagus	oesophagus
47	chr15:45933200-45934600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:45933200-45934600	Flanking Active TSS	NHDF-Ad	bronchial
49	chr15:45933200-45936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:45933200-45936600	Weak transcription	Primary T cells from cord blood	blood

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