Variant report

Variant	rs3754092
Chromosome Location	chr1:242010072-242010073
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	ZC3H11A	chr1:242009776-242011545	K562	blood:	n/a	n/a
2	IRF1	chr1:242009937-242012536	K562	blood:	n/a	chr1:242011465-242011479 chr1:242011421-242011435
3	E2F6	chr1:242009991-242012325	K562	blood:	n/a	chr1:242011510-242011517 chr1:242011510-242011517 chr1:242011510-242011518 chr1:242011509-242011519 chr1:242011510-242011517 chr1:242011484-242011498 chr1:242011450-242011459 chr1:242011452-242011461 chr1:242011509-242011520 chr1:242011510-242011521 chr1:242011510-242011518
4	MAX	chr1:242010013-242010481	K562	blood:	n/a	n/a
5	CUX1	chr1:242009983-242013139	K562	blood:	n/a	n/a
6	ZNF143	chr1:242010050-242011903	K562	blood:	n/a	chr1:242011210-242011228
7	MAZ	chr1:242010035-242012545	K562	blood:	n/a	n/a
8	KAP1	chr1:242009593-242010441	K562	blood:	n/a	chr1:242010275-242010283
9	JUND	chr1:242009855-242012643	K562	blood:	n/a	chr1:242010675-242010684
10	CHD2	chr1:242009977-242010718	K562	blood:	n/a	n/a
11	E2F4	chr1:242009804-242010146	MCF10A-Er-Src	breast:	n/a	n/a
12	BACH1	chr1:242009793-242010186	K562	blood:	n/a	n/a
13	CTCF	chr1:242009987-242011364	K562	blood:	n/a	n/a
14	MAFF	chr1:242009918-242011605	K562	blood:	n/a	n/a
15	MYC	chr1:242009766-242012341	K562	blood:	n/a	n/a
16	CBX3	chr1:242009636-242012532	K562	blood:	n/a	n/a
17	TBL1XR1	chr1:242009598-242012005	K562	blood:	n/a	n/a
18	POLR2A	chr1:242010063-242012428	K562	blood:	n/a	n/a
19	BHLHE40	chr1:242009738-242010104	K562	blood:	n/a	n/a
20	MAFK	chr1:242009843-242012207	K562	blood:	n/a	chr1:242010342-242010357
21	GATA1	chr1:242009980-242012564	PBDE	blood:	n/a	chr1:242011881-242011891 chr1:242011883-242011890 chr1:242012553-242012563 chr1:242010607-242010617 chr1:242011883-242011890 chr1:242011881-242011890 chr1:242012490-242012507 chr1:242011883-242011890
22	TEAD4	chr1:242009849-242012345	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:241680902..241684541-chr1:242009942..242012706,4	K562	blood:
2	chr1:241802102..241804539-chr1:242008535..242011145,2	MCF-7	breast:
3	chr1:241799658..241805161-chr1:242010004..242013743,14	K562	blood:
4	chr1:241696697..241699128-chr1:242009298..242010956,2	MCF-7	breast:
5	chr1:241994931..241996990-chr1:242009652..242011355,2	K562	blood:
6	chr1:242009986..242012755-chr1:245025033..245026742,2	K562	blood:
7	chr1:241801176..241804000-chr1:242008190..242010592,3	MCF-7	breast:
8	chr1:241796724..241805103-chr1:242008052..242013159,15	K562	blood:

Variant related genes	Relation type
EXO1	TF binding region
ENSG00000091483	Chromatin interaction
ENSG00000203668	Chromatin interaction
ENSG00000054277	Chromatin interaction
ENSG00000153187	Chromatin interaction
ENSG00000229022	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3819356	0.82[JPT][hapmap]
rs3819357	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv528015	chr1:241865219-242070731	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv2762521	chr1:241891040-242074222	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv873373	chr1:241939069-242027500	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv873374	chr1:241975147-242097624	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242001600-242010400	Weak transcription	HMEC	breast
2	chr1:242001800-242010600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:242001800-242010800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:242003400-242010400	Weak transcription	GM12878-XiMat	blood
5	chr1:242006000-242010600	Weak transcription	NHLF	lung
6	chr1:242006000-242010800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:242006200-242010400	Weak transcription	NHEK	skin
8	chr1:242006200-242010600	Weak transcription	Fetal Heart	heart
9	chr1:242006400-242010200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:242006400-242010400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:242006400-242010600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:242006400-242010600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:242006400-242010600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:242006400-242010600	Weak transcription	HSMM	muscle
15	chr1:242006400-242010600	Weak transcription	NHDF-Ad	bronchial
16	chr1:242006400-242010600	Weak transcription	Osteobl	bone
17	chr1:242006400-242010800	Weak transcription	HSMMtube	muscle
18	chr1:242006600-242010400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:242006600-242010600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:242006600-242010600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:242007200-242010400	Weak transcription	A549	lung
22	chr1:242008200-242010800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:242008800-242011000	Weak transcription	Pancreas	Pancrea
24	chr1:242009800-242010200	Enhancers	Dnd41	blood
25	chr1:242010000-242011000	Flanking Active TSS	K562	blood

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