Variant report

Variant	rs74128314
Chromosome Location	chr1:174126363-174126364
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	PAX5	chr1:174126331-174126619	GM12878	blood:	n/a	n/a
2	BCLAF1	chr1:174126127-174126788	GM12878	blood:	n/a	n/a
3	MEF2A	chr1:174126065-174126825	GM12878	blood:	n/a	n/a
4	SREBP1	chr1:174125904-174128766	GM12878	blood:	n/a	n/a
5	SP1	chr1:174126195-174126739	GM12878	blood:	n/a	n/a
6	STAT3	chr1:174125995-174126539	MCF10A-Er-Src	breast:	n/a	n/a
7	RELA	chr1:174126135-174129608	GM18505	blood:	n/a	chr1:174129361-174129370 chr1:174129361-174129370
8	STAT5A	chr1:174126165-174126737	GM12878	blood:	n/a	n/a
9	FOS	chr1:174126153-174126688	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr1:174126096-174130044	GM12891	blood:	n/a	n/a
11	ATF2	chr1:174126112-174126729	GM12878	blood:	n/a	n/a
12	JUND	chr1:174126272-174126656	GM12878	blood:	n/a	n/a
13	MTA3	chr1:174126129-174127057	GM12878	blood:	n/a	n/a
14	PML	chr1:174126086-174127172	GM12878	blood:	n/a	n/a
15	BCL3	chr1:174126250-174126699	GM12878	blood:	n/a	n/a
16	NFIC	chr1:174126078-174126917	GM12878	blood:	n/a	n/a
17	IRF4	chr1:174126114-174126790	GM12878	blood:	n/a	n/a
18	FOS	chr1:174126125-174126823	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT5A	chr1:174126243-174126596	GM12878	blood:	n/a	n/a
20	PML	chr1:174126275-174126668	GM12878	blood:	n/a	n/a
21	FOXM1	chr1:174126170-174126889	GM12878	blood:	n/a	n/a
22	GATA1	chr1:174125584-174127288	PBDE	blood:	n/a	chr1:174126771-174126778 chr1:174125812-174125825 chr1:174126767-174126778 chr1:174126771-174126778 chr1:174126739-174126750 chr1:174126767-174126783 chr1:174126764-174126785 chr1:174126771-174126778
23	NFATC1	chr1:174126142-174126777	GM12878	blood:	n/a	n/a
24	STAT3	chr1:174126341-174126786	GM12878	blood:	n/a	n/a
25	JUND	chr1:174126220-174126806	GM12878	blood:	n/a	n/a
26	EBF1	chr1:174126244-174126800	GM12878	blood:	n/a	n/a
27	MTA3	chr1:174126026-174126996	GM12878	blood:	n/a	n/a
28	EP300	chr1:174126247-174126741	GM12878	blood:	n/a	n/a
29	RUNX3	chr1:174125984-174127052	GM12878	blood:	n/a	n/a
30	MAZ	chr1:174126257-174126747	GM12878	blood:	n/a	chr1:174126719-174126728
31	NFIC	chr1:174126009-174126956	GM12878	blood:	n/a	n/a
32	MEF2C	chr1:174126181-174126700	GM12878	blood:	n/a	n/a
33	STAT3	chr1:174126217-174126668	MCF10A-Er-Src	breast:	n/a	n/a
34	RUNX3	chr1:174125985-174126905	GM12878	blood:	n/a	n/a
35	SPI1	chr1:174126043-174126764	GM12878	blood:	n/a	n/a
36	BCL11A	chr1:174126247-174126715	GM12878	blood:	n/a	n/a
37	BCL3	chr1:174126279-174126568	GM12878	blood:	n/a	n/a
38	NFATC1	chr1:174126047-174126796	GM12878	blood:	n/a	n/a
39	TEAD4	chr1:174126225-174127016	K562	blood:	n/a	n/a
40	TCF3	chr1:174126340-174126471	GM12878	blood:	n/a	n/a
41	POU2F2	chr1:174126208-174126735	GM12878	blood:	n/a	chr1:174126551-174126560 chr1:174126551-174126561 chr1:174126548-174126563 chr1:174126552-174126559 chr1:174126551-174126561 chr1:174126550-174126562
42	ZNF384	chr1:174126258-174126668	GM12878	blood:	n/a	n/a
43	BCL11A	chr1:174126346-174126620	GM12878	blood:	n/a	n/a
44	MYC	chr1:174126238-174126841	MCF10A-Er-Src	breast:	n/a	chr1:174126719-174126728
45	EP300	chr1:174126193-174126763	GM12878	blood:	n/a	n/a
46	POU2F2	chr1:174126170-174126802	GM12891	blood:	n/a	chr1:174126551-174126560 chr1:174126551-174126561 chr1:174126548-174126563 chr1:174126552-174126559 chr1:174126551-174126561 chr1:174126550-174126562
47	STAT3	chr1:174126257-174126583	MCF10A-Er-Src	breast:	n/a	n/a
48	IKZF1	chr1:174126088-174126904	GM12878	blood:	n/a	n/a
49	GATA3	chr1:174126083-174126567	SH-SY5Y	brain:	n/a	n/a
50	RCOR1	chr1:174126212-174126883	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:174120725..174126684-chr1:174127143..174130813,8	MCF-7	breast:
2	chr1:173991432..173994922-chr1:174124746..174129302,4	K562	blood:
3	chr1:174123084..174124650-chr1:174124854..174126776,2	MCF-7	breast:
4	chr1:173833092..173835036-chr1:174125065..174127338,2	K562	blood:

Variant related genes	Relation type
RABGAP1L	TF binding region
ENSG00000224977	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000208317	Chromatin interaction
ENSG00000227373	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000152061	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55748218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56084735	1.00[AMR][1000 genomes]
rs57974684	1.00[AMR][1000 genomes]
rs58163532	1.00[AMR][1000 genomes]
rs59489087	1.00[AMR][1000 genomes]
rs59872079	1.00[AFR][1000 genomes]
rs60060044	1.00[AMR][1000 genomes]
rs61374922	1.00[AMR][1000 genomes]
rs74128313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128325	1.00[AMR][1000 genomes]
rs74128347	1.00[AMR][1000 genomes]
rs74128376	1.00[AMR][1000 genomes]
rs74128379	1.00[AMR][1000 genomes]
rs74128381	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv465661	chr1:174014507-174152688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv548193	chr1:174014507-174152688	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174120000-174128000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:174122200-174127600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:174122400-174127400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:174122800-174127400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:174122800-174127600	Weak transcription	A549	lung
6	chr1:174123000-174127400	Weak transcription	Primary T cells from cord blood	blood
7	chr1:174123000-174127400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:174123200-174126400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:174123200-174127200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:174123200-174127400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:174123200-174127400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:174123200-174127800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:174123600-174127400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:174124600-174127400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:174125000-174126800	Enhancers	Hela-S3	cervix
16	chr1:174125000-174127400	Enhancers	K562	blood
17	chr1:174125000-174127600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr1:174125600-174126400	Flanking Active TSS	GM12878-XiMat	blood
19	chr1:174125600-174127600	Enhancers	Fetal Heart	heart
20	chr1:174125600-174127600	Enhancers	HMEC	breast
21	chr1:174125600-174127800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:174125600-174127800	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:174125800-174126400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr1:174125800-174127600	Weak transcription	Right Atrium	heart
25	chr1:174126000-174127600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:174126000-174127600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:174126000-174127600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:174126000-174127600	Enhancers	NHEK	skin
29	chr1:174126000-174127800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:174126200-174127600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:174126200-174127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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