Variant report

Variant	rs1749413
Chromosome Location	chr1:155827458-155827459
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr1:155826212-155828027	Hela-S3	cervix:	n/a	n/a
2	SP1	chr1:155826648-155827464	A549	lung:	n/a	n/a
3	KAP1	chr1:155826773-155827621	U2OS	brain:	n/a	chr1:155827162-155827170
4	POLR2A	chr1:155826599-155827513	Hela-S3	cervix:	n/a	n/a
5	GTF3C2	chr1:155827086-155827931	Hela-S3	cervix:	n/a	n/a
6	JUN	chr1:155826299-155828404	K562	blood:	n/a	chr1:155826456-155826467
7	MXI1	chr1:155826018-155827498	IMR90	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155823442..155829143-chr1:155879989..155882670,6	MCF-7	breast:
2	chr1:155825653..155829252-chr1:155877943..155882760,5	MCF-7	breast:
3	chr1:155826322..155828112-chr1:156163271..156165148,2	MCF-7	breast:
4	chr1:155824896..155829386-chr1:155902844..155905236,4	MCF-7	breast:
5	chr1:155826962..155828994-chr1:155903211..155904841,2	K562	blood:
6	chr1:155821775..155825361-chr1:155825507..155828654,6	MCF-7	breast:
7	chr1:155825368..155829605-chr1:155879516..155883021,7	K562	blood:
8	chr1:155825171..155830547-chr1:155878470..155884979,12	K562	blood:
9	chr1:155827023..155830284-chr1:156022724..156025393,4	K562	blood:
10	chr1:155713796..155716545-chr1:155826802..155829458,2	K562	blood:

No data

Variant related genes	Relation type
GON4L	TF binding region
SYT11	TF binding region
ENSG00000203761	Chromatin interaction
ENSG00000116580	Chromatin interaction
ENSG00000160803	Chromatin interaction
ENSG00000143622	Chromatin interaction
ENSG00000116586	Chromatin interaction
ENSG00000132680	Chromatin interaction
ENSG00000160785	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10796952	0.89[AMR][1000 genomes]
rs1624846	1.00[ASN][1000 genomes]
rs1625821	1.00[AMR][1000 genomes]
rs1627630	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs168343	1.00[AMR][1000 genomes]
rs171168	1.00[AMR][1000 genomes]
rs1749412	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749414	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749420	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749422	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1756242	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1765280	0.89[AFR][1000 genomes]
rs1886618	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2136920	1.00[AMR][1000 genomes]
rs2175389	1.00[AMR][1000 genomes]
rs2363017	1.00[AMR][1000 genomes]
rs2485472	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2666828	0.89[AMR][1000 genomes]
rs2686264	0.89[AMR][1000 genomes]
rs2885676	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2988999	0.89[AMR][1000 genomes]
rs348184	1.00[AMR][1000 genomes]
rs348188	0.89[AMR][1000 genomes]
rs348189	0.89[AMR][1000 genomes]
rs348191	1.00[AMR][1000 genomes]
rs348193	0.89[AMR][1000 genomes]
rs348197	1.00[AMR][1000 genomes]
rs348199	1.00[AMR][1000 genomes]
rs348200	1.00[AMR][1000 genomes]
rs348207	1.00[AMR][1000 genomes]
rs348208	1.00[AMR][1000 genomes]
rs348209	1.00[AMR][1000 genomes]
rs35264557	0.89[AMR][1000 genomes]
rs4581273	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs492669	0.89[AMR][1000 genomes]
rs4971058	0.89[AMR][1000 genomes]
rs512551	1.00[AMR][1000 genomes]
rs540380	1.00[AMR][1000 genomes]
rs568672	1.00[AMR][1000 genomes]
rs606755	1.00[AMR][1000 genomes]
rs607036	0.89[AMR][1000 genomes]
rs617232	0.89[AMR][1000 genomes]
rs6427290	0.87[AFR][1000 genomes]
rs6688399	1.00[AMR][1000 genomes]
rs670787	0.89[AMR][1000 genomes]
rs708607	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs708609	1.00[AMR][1000 genomes]
rs708613	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8179457	1.00[AMR][1000 genomes]
rs822013	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822014	1.00[AMR][1000 genomes]
rs822017	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822021	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822023	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822024	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs822027	1.00[AMR][1000 genomes]
rs822479	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822481	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822483	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822484	0.80[AFR][1000 genomes]
rs822485	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822487	0.89[AFR][1000 genomes]
rs822492	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822496	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs822498	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822521	0.83[AFR][1000 genomes]
rs822522	1.00[AMR][1000 genomes]
rs866603	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427219	0.89[AMR][1000 genomes]
rs9427222	1.00[AMR][1000 genomes]
rs9427227	1.00[AMR][1000 genomes]
rs9427229	1.00[AMR][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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155825800-155827600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:155825800-155827600	Active TSS	K562	blood
3	chr1:155826000-155827600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr1:155826200-155827600	Active TSS	Fetal Intestine Large	intestine
5	chr1:155826200-155827600	Active TSS	GM12878-XiMat	blood
6	chr1:155826400-155827600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:155826400-155827600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:155826400-155827600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr1:155826400-155827600	Active TSS	Fetal Brain Female	brain
10	chr1:155826400-155827600	Active TSS	Fetal Intestine Small	intestine
11	chr1:155826400-155827600	Active TSS	Psoas Muscle	Psoas
12	chr1:155826400-155827600	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr1:155826400-155827600	Active TSS	A549	lung
14	chr1:155826400-155827600	Active TSS	Hela-S3	cervix
15	chr1:155826400-155829600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:155826600-155827600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:155826600-155827600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr1:155826600-155827600	Active TSS	NHEK	skin
19	chr1:155826600-155829400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr1:155827000-155827600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr1:155827000-155827600	Active TSS	HepG2	liver
22	chr1:155827000-155828800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:155827000-155828800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:155827000-155829000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:155827000-155829200	Weak transcription	Spleen	Spleen
26	chr1:155827000-155829400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:155827000-155829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:155827000-155829400	Weak transcription	Lung	lung
29	chr1:155827200-155827600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr1:155827200-155827600	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr1:155827200-155827600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:155827200-155827600	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr1:155827200-155827600	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr1:155827200-155827600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr1:155827200-155827600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr1:155827200-155828600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:155827200-155828600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:155827200-155828800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:155827200-155828800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:155827200-155828800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:155827200-155829000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:155827200-155829400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:155827200-155829400	Weak transcription	Gastric	stomach
44	chr1:155827200-155829600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:155827200-155829800	Flanking Active TSS	Dnd41	blood
46	chr1:155827400-155827600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr1:155827400-155827600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:155827400-155827600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:155827400-155827600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:155827400-155827600	Flanking Active TSS	Duodenum Mucosa	Duodenum

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