Variant report

Variant	rs743119
Chromosome Location	chr1:94374742-94374743
allele	A/C
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	POLR2A	chr1:94374596-94375426	HCT-116	colon:	n/a	n/a
2	TCF3	chr1:94374340-94374761	GM12878	blood:	n/a	n/a
3	TCF12	chr1:94374180-94375503	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr1:94374710-94375326	A549	lung:	n/a	chr1:94374842-94374858 chr1:94374840-94374849
5	POLR2A	chr1:94374230-94375393	GM19193	blood:	n/a	n/a
6	POLR2A	chr1:94374259-94375446	GM15510	blood:	n/a	n/a
7	E2F6	chr1:94374281-94375453	K562	blood:	n/a	chr1:94375442-94375451 chr1:94374910-94374917 chr1:94374840-94374850 chr1:94374904-94374914 chr1:94374910-94374917 chr1:94374906-94374918 chr1:94375188-94375197 chr1:94374910-94374917
8	MAFK	chr1:94374500-94375466	HepG2	liver:	n/a	chr1:94375010-94375025
9	HCFC1	chr1:94373924-94375533	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:94374422-94375429	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr1:94374209-94375467	GM18951	blood:	n/a	n/a
12	MAFK	chr1:94374605-94375686	H1-hESC	embryonic stem cell:	n/a	chr1:94375010-94375025
13	UBTF	chr1:94374161-94375618	K562	blood:	n/a	n/a
14	POLR2A	chr1:94374730-94375359	HUVEC	blood vessel:	n/a	n/a
15	JUN	chr1:94373742-94375901	K562	blood:	n/a	chr1:94374760-94374769
16	POLR2A	chr1:94374260-94375510	K562	blood:	n/a	n/a
17	TAF1	chr1:94374301-94375426	HepG2	liver:	n/a	n/a
18	UBTF	chr1:94374216-94375395	K562	blood:	n/a	n/a
19	POLR2A	chr1:94374219-94375549	H1-neurons	neurons:	n/a	n/a
20	TFAP2A	chr1:94374036-94375446	Hela-S3	cervix:	n/a	chr1:94374505-94374517 chr1:94375323-94375338 chr1:94374505-94374516 chr1:94374877-94374885 chr1:94375222-94375233 chr1:94375129-94375141 chr1:94374505-94374516 chr1:94375124-94375139 chr1:94374505-94374516 chr1:94374500-94374515
21	SMARCB1	chr1:94374173-94375480	Hela-S3	cervix:	n/a	n/a
22	SP1	chr1:94374726-94375539	A549	lung:	n/a	chr1:94375075-94375084 chr1:94375076-94375085 chr1:94375323-94375335 chr1:94375075-94375085 chr1:94375076-94375085 chr1:94375075-94375085 chr1:94375074-94375086 chr1:94375074-94375086 chr1:94375323-94375335
23	JUND	chr1:94374734-94375437	A549	lung:	n/a	chr1:94374760-94374769
24	ZBTB7A	chr1:94374741-94375467	K562	blood:	n/a	chr1:94375447-94375456
25	SIN3AK20	chr1:94374171-94375457	SK-N-SH	brain:	n/a	n/a
26	YY1	chr1:94374706-94375453	GM12878	blood:	n/a	chr1:94374837-94374851 chr1:94374735-94374746 chr1:94375188-94375202 chr1:94374931-94374945 chr1:94374896-94374907 chr1:94374903-94374912 chr1:94375070-94375081 chr1:94375188-94375197 chr1:94374751-94374762 chr1:94375323-94375337 chr1:94375185-94375199 chr1:94374840-94374854
27	POLR2A	chr1:94373937-94375710	PBDE	blood:	n/a	n/a
28	POLR2A	chr1:94374177-94375572	K562	blood:	n/a	n/a
29	POLR2A	chr1:94374365-94375471	A549	lung:	n/a	n/a
30	POLR2A	chr1:94374225-94375437	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr1:94374216-94375435	Gliobla	brain:	n/a	n/a
32	POLR2A	chr1:94374612-94375615	K562	blood:	n/a	n/a
33	MAX	chr1:94374237-94374857	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr1:94374236-94375394	Hela-S3	cervix:	n/a	chr1:94375076-94375086
35	POLR2A	chr1:94374158-94375420	A549	lung:	n/a	n/a
36	POLR2A	chr1:94374311-94375558	NB4	blood:	n/a	n/a
37	TFAP2C	chr1:94374140-94375505	Hela-S3	cervix:	n/a	chr1:94374541-94374556
38	TAF1	chr1:94374222-94375561	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chr1:94374151-94375487	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr1:94374371-94374781	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3AK20	chr1:94374687-94375550	MCF-7	breast:	n/a	n/a
42	MAZ	chr1:94374145-94375654	K562	blood:	n/a	n/a
43	TAF1	chr1:94374721-94375418	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr1:94374586-94375425	HUVEC	blood vessel:	n/a	n/a
45	MAX	chr1:94374214-94375551	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr1:94374148-94374767	GM12892	blood:	n/a	n/a
47	POLR2A	chr1:94374729-94375415	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr1:94374342-94375446	HepG2	liver:	n/a	n/a
49	POLR2A	chr1:94374308-94375387	A549	lung:	n/a	n/a
50	POLR2A	chr1:94374277-94375487	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:94337226..94339966-chr1:94373816..94376815,2	K562	blood:
2	chr1:94372270..94376088-chr1:94480112..94484516,4	K562	blood:
3	chr1:94312303..94314752-chr1:94373572..94376301,2	MCF-7	breast:
4	chr1:94344173..94346291-chr1:94372636..94375124,3	K562	blood:
5	chr1:94343199..94347658-chr1:94372955..94376562,9	MCF-7	breast:
6	chr1:94344690..94346304-chr1:94373768..94376372,3	MCF-7	breast:
7	chr1:93811453..93814121-chr1:94372637..94375148,3	K562	blood:
8	chr1:94374517..94375294-chr5:612302..612832,2	Hela-S3	cervix:
9	chr1:93811453..93813762-chr1:94372603..94376116,3	K562	blood:
10	chr1:94310847..94313357-chr1:94374431..94376609,2	K562	blood:
11	chr1:94342014..94348814-chr1:94369991..94376733,14	K562	blood:

Variant related genes	Relation type
GCLM	TF binding region
ENSG00000117505	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000249650	Chromatin interaction
ENSG00000112877	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000198691	Chromatin interaction
ENSG00000223745	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10159000	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10489607	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10874811	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10874812	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165031	0.94[ASN][1000 genomes]
rs11165034	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165037	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12068168	0.90[ASN][1000 genomes]
rs12068345	0.95[ASN][1000 genomes]
rs12089163	0.94[ASN][1000 genomes]
rs12122406	0.91[ASN][1000 genomes]
rs12129986	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12130623	0.92[ASN][1000 genomes]
rs12131163	0.91[ASN][1000 genomes]
rs12131247	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12135991	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12140097	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12401354	0.87[ASN][1000 genomes]
rs1473711	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1989020	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1989021	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2017736	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2092697	0.91[ASN][1000 genomes]
rs2143993	0.91[ASN][1000 genomes]
rs2273406	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2391324	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35674584	0.92[ASN][1000 genomes]
rs3827715	0.97[ASN][1000 genomes]
rs41303970	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4573532	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4598495	0.94[ASN][1000 genomes]
rs57387172	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60120441	0.94[ASN][1000 genomes]
rs61667071	0.94[ASN][1000 genomes]
rs6680027	0.93[ASN][1000 genomes]
rs6681078	0.94[ASN][1000 genomes]
rs6696758	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6699912	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6700112	0.94[ASN][1000 genomes]
rs718873	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs718874	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs718875	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7536714	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs761889	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs769211	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523355	chr1:94351328-94385591	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3404764	chr1:94372564-94377162	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3426478	chr1:94373589-94376737	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:94369600-94375800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:94370800-94375200	Active TSS	HMEC	breast
3	chr1:94371200-94375200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:94372400-94375800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:94372400-94375800	Active TSS	NHLF	lung
6	chr1:94372800-94376000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:94373200-94375600	Active TSS	Brain Angular Gyrus	brain
8	chr1:94373200-94375800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:94373400-94375800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr1:94373400-94375800	Active TSS	HSMMtube	muscle
11	chr1:94373600-94375400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr1:94373600-94375400	Active TSS	K562	blood
13	chr1:94373600-94375600	Active TSS	Psoas Muscle	Psoas
14	chr1:94373600-94375600	Active TSS	A549	lung
15	chr1:94373600-94375600	Active TSS	HepG2	liver
16	chr1:94373600-94375800	Active TSS	NHDF-Ad	bronchial
17	chr1:94373800-94375400	Active TSS	Placenta	Placenta
18	chr1:94373800-94375600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:94373800-94375600	Active TSS	Right Atrium	heart
20	chr1:94373800-94375600	Active TSS	Thymus	Thymus
21	chr1:94373800-94375600	Active TSS	HSMM	muscle
22	chr1:94373800-94375800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:94373800-94375800	Active TSS	Colonic Mucosa	Colon
24	chr1:94373800-94375800	Active TSS	HUVEC	blood vessel
25	chr1:94373800-94375800	Active TSS	NH-A	brain
26	chr1:94374000-94375400	Active TSS	Primary T cells fromperipheralblood	blood
27	chr1:94374000-94375400	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr1:94374000-94375400	Active TSS	Small Intestine	intestine
29	chr1:94374000-94375600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:94374000-94375600	Active TSS	Fetal Intestine Large	intestine
31	chr1:94374000-94375600	Active TSS	Ovary	ovary
32	chr1:94374000-94375600	Active TSS	Right Ventricle	heart
33	chr1:94374000-94375800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:94374000-94375800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:94374000-94375800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:94374000-94375800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:94374000-94375800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:94374000-94375800	Active TSS	Muscle Satellite Cultured Cells	--
39	chr1:94374000-94375800	Active TSS	Aorta	Aorta
40	chr1:94374000-94375800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr1:94374000-94375800	Active TSS	Fetal Muscle Trunk	muscle
42	chr1:94374000-94375800	Active TSS	NHEK	skin
43	chr1:94374000-94375800	Active TSS	Osteobl	bone
44	chr1:94374000-94376000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr1:94374200-94374800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:94374200-94375400	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr1:94374200-94375400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:94374200-94375400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:94374200-94375400	Active TSS	Gastric	stomach
50	chr1:94374200-94375400	Active TSS	Spleen	Spleen

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