Variant report

Variant	rs1451047
Chromosome Location	chr15:42263035-42263036
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	TBP	chr15:42261868-42264163	GM12878	blood:	n/a	n/a
2	POU2F2	chr15:42261713-42263111	GM12878	blood:	n/a	n/a
3	CUX1	chr15:42262908-42264047	GM12878	blood:	n/a	n/a
4	BHLHE40	chr15:42263035-42265151	GM12878	blood:	n/a	chr15:42264366-42264382
5	RELA	chr15:42262009-42264133	GM18505	blood:	n/a	chr15:42262343-42262352 chr15:42262343-42262352
6	POLR2A	chr15:42262859-42263108	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr15:42261573-42265272	GM12891	blood:	n/a	n/a
8	POLR2A	chr15:42261750-42265284	GM19193	blood:	n/a	n/a
9	WRNIP1	chr15:42261762-42263061	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:42261815-42263231	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr15:42262951-42265239	GM19099	blood:	n/a	n/a
12	STAT3	chr15:42261933-42264148	GM12878	blood:	n/a	chr15:42263800-42263811 chr15:42262211-42262219 chr15:42262544-42262552
13	POLR2A	chr15:42261923-42263326	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:42262077-42265286	GM18526	blood:	n/a	n/a
15	POLR2A	chr15:42261859-42263163	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:42261809-42265207	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:42261575-42265422	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:42261591-42265371	GM12892	blood:	n/a	n/a
19	ATF2	chr15:42262188-42263879	GM12878	blood:	n/a	n/a
20	HCFC1	chr15:42262247-42265598	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr15:42261658-42265306	GM12892	blood:	n/a	n/a
22	POLR2A	chr15:42261717-42265303	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:42261511-42265356	GM12892	blood:	n/a	n/a
24	POLR2A	chr15:42262115-42265288	GM18951	blood:	n/a	n/a
25	POLR2A	chr15:42261813-42263239	GM12892	blood:	n/a	n/a
26	POLR2A	chr15:42261574-42265285	GM12891	blood:	n/a	n/a
27	CHD1	chr15:42261856-42265177	GM12878	blood:	n/a	chr15:42264378-42264388 chr15:42264425-42264435 chr15:42264434-42264444
28	POLR2A	chr15:42262099-42265291	GM12892	blood:	n/a	n/a
29	NFIC	chr15:42262131-42264169	GM12878	blood:	n/a	chr15:42263595-42263623
30	POLR2A	chr15:42261935-42265346	GM18505	blood:	n/a	n/a
31	POLR2A	chr15:42257469-42265439	GM12878	blood:	n/a	n/a
32	POLR2A	chr15:42261804-42265319	GM12891	blood:	n/a	n/a
33	MTA3	chr15:42261591-42265440	GM12878	blood:	n/a	n/a
34	PML	chr15:42261953-42263111	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:42261729-42265245	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42260388..42261984-chr15:42262083..42263811,2	K562	blood:
2	chr15:42262880..42265489-chr15:42362117..42364152,2	K562	blood:
3	chr15:42228585..42230820-chr15:42262332..42264722,2	MCF-7	breast:
4	chr15:42260486..42263450-chr8:104310584..104312154,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246740	TF binding region
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction
ENSG00000159337	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1025227	1.00[EUR][1000 genomes]
rs1030417	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1197656	1.00[EUR][1000 genomes]
rs1197676	1.00[EUR][1000 genomes]
rs1197678	1.00[EUR][1000 genomes]
rs1197695	1.00[EUR][1000 genomes]
rs1197696	1.00[EUR][1000 genomes]
rs1197698	1.00[EUR][1000 genomes]
rs1201692	1.00[EUR][1000 genomes]
rs1530836	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1559882	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1614205	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1621597	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1648808	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1648812	1.00[EUR][1000 genomes]
rs1648819	1.00[EUR][1000 genomes]
rs1648820	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1668566	1.00[EUR][1000 genomes]
rs1668590	1.00[ASW][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1668591	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1704402	1.00[TSI][hapmap]
rs1704408	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1704409	1.00[ASW][hapmap];0.81[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2665209	1.00[EUR][1000 genomes]
rs2724932	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57032192	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410628	1.00[EUR][1000 genomes]
rs890497	1.00[EUR][1000 genomes]
rs890499	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs890500	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
5	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42248600-42263400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:42250400-42263600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:42257600-42263400	Enhancers	Primary B cells from peripheral blood	blood
4	chr15:42258200-42263400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr15:42258600-42263800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:42258600-42263800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr15:42259200-42263200	Weak transcription	Colon Smooth Muscle	Colon
8	chr15:42260000-42263200	Enhancers	Primary T cells from cord blood	blood
9	chr15:42260000-42263200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:42260000-42263600	Weak transcription	Brain Anterior Caudate	brain
11	chr15:42260600-42263400	Weak transcription	Brain Angular Gyrus	brain
12	chr15:42260600-42263400	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:42260800-42263200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:42261200-42263200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:42261800-42263200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr15:42261800-42263200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr15:42261800-42263200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:42261800-42263200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr15:42261800-42263400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr15:42261800-42263400	Enhancers	HepG2	liver
21	chr15:42261800-42263400	Flanking Active TSS	HMEC	breast
22	chr15:42261800-42263600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr15:42261800-42263600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:42261800-42263800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr15:42261800-42263800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr15:42261800-42265400	Active TSS	Stomach Smooth Muscle	stomach
27	chr15:42262000-42263200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr15:42262000-42263400	Enhancers	Stomach Mucosa	stomach
29	chr15:42262000-42263400	Enhancers	K562	blood
30	chr15:42262000-42263600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:42262000-42263600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr15:42262000-42263600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr15:42262200-42263200	Enhancers	A549	lung
34	chr15:42262200-42263200	Weak transcription	Osteobl	bone
35	chr15:42262200-42263400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:42262200-42263400	Flanking Active TSS	Fetal Heart	heart
37	chr15:42262200-42263600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:42262200-42263800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr15:42262200-42263800	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr15:42262200-42264000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr15:42262200-42265200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr15:42262400-42263200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr15:42262400-42263400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr15:42262400-42263600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr15:42262400-42264200	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr15:42262400-42265200	Active TSS	Placenta	Placenta
47	chr15:42262400-42265200	Active TSS	Rectal Smooth Muscle	rectum
48	chr15:42262600-42263200	Flanking Active TSS	GM12878-XiMat	blood
49	chr15:42262600-42263200	Enhancers	NH-A	brain
50	chr15:42262600-42263200	Flanking Active TSS	NHEK	skin

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