Variant report

Variant	rs4302642
Chromosome Location	chr6:74232610-74232611
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	RUNX3	chr6:74232476-74232989	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:74232534-74232989	K562	blood:	n/a	n/a
3	CEBPB	chr6:74232542-74233017	MCF-7	breast:	n/a	chr6:74232765-74232776 chr6:74232767-74232776 chr6:74232766-74232777
4	CEBPB	chr6:74232573-74232991	K562	blood:	n/a	chr6:74232765-74232776 chr6:74232767-74232776 chr6:74232766-74232777
5	POLR2A	chr6:74232596-74233967	K562	blood:	n/a	n/a
6	MTA3	chr6:74232549-74233936	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:74232293-74233978	GM12892	blood:	n/a	n/a
8	CEBPB	chr6:74232583-74233179	HepG2	liver:	n/a	chr6:74232765-74232776 chr6:74232767-74232776 chr6:74232766-74232777
9	CEBPB	chr6:74232482-74233031	A549	lung:	n/a	chr6:74232765-74232776 chr6:74232767-74232776 chr6:74232766-74232777
10	POLR2A	chr6:74232510-74233865	GM19193	blood:	n/a	n/a
11	TEAD4	chr6:74232526-74234011	K562	blood:	n/a	n/a
12	HEY1	chr6:74232462-74233918	K562	blood:	n/a	n/a
13	POLR2A	chr6:74232470-74232962	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:74232550-74233931	GM12892	blood:	n/a	n/a
15	POLR2A	chr6:74227636-74234221	GM18505	blood:	n/a	n/a
16	JUND	chr6:74232593-74233896	K562	blood:	n/a	n/a
17	STAT5A	chr6:74232610-74233857	GM12878	blood:	n/a	chr6:74233265-74233277
18	CEBPB	chr6:74232592-74233751	Hela-S3	cervix:	n/a	chr6:74232765-74232776 chr6:74232767-74232776 chr6:74232766-74232777
19	POLR2A	chr6:74232558-74233842	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:74227394-74234061	PANC-1	pancreas:	n/a	n/a
21	MYC	chr6:74232450-74234004	K562	blood:	n/a	n/a
22	POLR2A	chr6:74232586-74233899	GM12892	blood:	n/a	n/a
23	NFATC1	chr6:74232599-74234124	GM12878	blood:	n/a	n/a
24	MTA3	chr6:74232459-74234267	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:74232416-74233806	GM15510	blood:	n/a	n/a
26	CEBPB	chr6:74232599-74232959	IMR90	lung:	n/a	chr6:74232765-74232776 chr6:74232767-74232776 chr6:74232766-74232777
27	MXI1	chr6:74232607-74234064	GM12878	blood:	n/a	n/a
28	UBTF	chr6:74229772-74233790	K562	blood:	n/a	n/a
29	POLR2A	chr6:74221444-74234199	GM12878	blood:	n/a	n/a
30	PML	chr6:74232594-74234106	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:74227463-74234273	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr6:74228192-74234099	GM19099	blood:	n/a	n/a
33	POLR2A	chr6:74223571-74234182	K562	blood:	n/a	n/a
34	CEBPB	chr6:74232588-74232969	A549	lung:	n/a	chr6:74232765-74232776 chr6:74232767-74232776 chr6:74232766-74232777
35	TBP	chr6:74232530-74233979	K562	blood:	n/a	n/a
36	POLR2A	chr6:74232178-74234298	HepG2	liver:	n/a	n/a
37	POLR2A	chr6:74232460-74233865	GM12892	blood:	n/a	n/a
38	RCOR1	chr6:74232192-74233796	K562	blood:	n/a	n/a
39	POLR2A	chr6:74229057-74234101	Raji	blood:	n/a	n/a
40	POLR2A	chr6:74232280-74232987	K562	blood:	n/a	n/a
41	POLR2A	chr6:74232483-74234195	HCT-116	colon:	n/a	n/a
42	CEBPB	chr6:74232449-74232977	K562	blood:	n/a	chr6:74232765-74232776 chr6:74232767-74232776 chr6:74232766-74232777
43	MAX	chr6:74232542-74234157	HCT-116	colon:	n/a	n/a
44	CEBPD	chr6:74232551-74233776	K562	blood:	n/a	chr6:74232765-74232776
45	GTF3C2	chr6:74231944-74233679	K562	blood:	n/a	n/a
46	POLR2A	chr6:74232544-74233994	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:74230158..74233335-chr6:74327185..74331083,5	K562	blood:
2	chr6:74228897..74233348-chr6:76310739..76313863,5	K562	blood:
3	chr6:74221323..74236726-chr6:74306065..74338770,101	K562	blood:
4	chr6:74228067..74234767-chr6:74357105..74365312,16	MCF-7	breast:
5	chr6:74231501..74234013-chr6:75953624..75956455,2	MCF-7	breast:
6	chr6:74219718..74234750-chr6:74354945..74369231,56	K562	blood:
7	chr6:74220976..74234980-chr6:74352572..74366941,62	K562	blood:
8	chr6:74228702..74232744-chr6:74360665..74366385,13	MCF-7	breast:
9	chr11:47585806..47587545-chr6:74230961..74233222,2	K562	blood:
10	chr6:74161775..74163563-chr6:74231007..74233412,2	MCF-7	breast:
11	chr6:73972686..73974360-chr6:74230027..74232988,2	MCF-7	breast:
12	chr6:74229165..74233433-chr6:74353361..74356645,5	MCF-7	breast:
13	chr6:74170147..74173171-chr6:74228405..74233047,5	K562	blood:

Variant related genes	Relation type
ENSG00000229862	TF binding region
EEF1A1	TF binding region
ENSG00000135314	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000112695	Chromatin interaction
ENSG00000229852	Chromatin interaction
ENSG00000243501	Chromatin interaction
ENSG00000112701	Chromatin interaction
ENSG00000164430	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000263378	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000218459	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000135297	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10943103	1.00[EUR][1000 genomes]
rs11963033	1.00[EUR][1000 genomes]
rs12190444	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12191112	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12193628	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12197170	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12198839	0.91[EUR][1000 genomes]
rs12199142	1.00[EUR][1000 genomes]
rs12199577	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12205957	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12205991	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12212315	0.92[EUR][1000 genomes]
rs28365878	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3857464	1.00[EUR][1000 genomes]
rs3857465	0.96[EUR][1000 genomes]
rs56104432	0.96[EUR][1000 genomes]
rs56375536	1.00[EUR][1000 genomes]
rs72947408	1.00[EUR][1000 genomes]
rs72947410	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers 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 target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS 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 miRNA target site	172 gene(s)	inside rSNPs	diseases
8	esv2763576	chr6:74197638-74277249	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
9	nsv5350	chr6:74221995-74267088	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
10	nsv886159	chr6:74223153-74275405	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
11	nsv463153	chr6:74229258-74290291	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
12	nsv603693	chr6:74229258-74290291	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 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	chr6:74227800-74233800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:74230000-74233600	Active TSS	GM12878-XiMat	blood
3	chr6:74230000-74233800	Active TSS	HSMM	muscle
4	chr6:74230000-74233800	Active TSS	K562	blood
5	chr6:74230800-74233000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:74230800-74234200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:74231400-74233000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr6:74231400-74234200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr6:74231600-74232800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:74231600-74232800	Weak transcription	Left Ventricle	heart
11	chr6:74231600-74232800	Weak transcription	Lung	lung
12	chr6:74231600-74233000	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr6:74231600-74233000	Weak transcription	Gastric	stomach
14	chr6:74231600-74233000	Flanking Active TSS	Dnd41	blood
15	chr6:74231600-74233000	Flanking Active TSS	Hela-S3	cervix
16	chr6:74231600-74233200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:74231600-74233200	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr6:74231600-74233200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr6:74231600-74233200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:74231600-74233200	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr6:74231600-74234400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:74231800-74232800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr6:74231800-74232800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:74231800-74232800	Weak transcription	Esophagus	oesophagus
25	chr6:74231800-74232800	Enhancers	Placenta	Placenta
26	chr6:74231800-74232800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr6:74231800-74233000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:74231800-74233000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr6:74231800-74233000	Weak transcription	Ovary	ovary
30	chr6:74231800-74233000	Flanking Active TSS	HepG2	liver
31	chr6:74231800-74233200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:74231800-74233200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr6:74231800-74233200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr6:74231800-74233200	Flanking Active TSS	NHEK	skin
35	chr6:74232000-74232800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr6:74232000-74232800	Enhancers	Fetal Muscle Trunk	muscle
37	chr6:74232000-74232800	Enhancers	Fetal Stomach	stomach
38	chr6:74232000-74232800	Weak transcription	Right Atrium	heart
39	chr6:74232000-74232800	Weak transcription	Small Intestine	intestine
40	chr6:74232000-74233000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:74232000-74233000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr6:74232000-74233000	Weak transcription	Aorta	Aorta
43	chr6:74232000-74233000	Enhancers	Fetal Heart	heart
44	chr6:74232000-74233000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr6:74232000-74233000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:74232000-74233200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr6:74232000-74233200	Weak transcription	Fetal Brain Male	brain
48	chr6:74232200-74232800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:74232200-74232800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:74232200-74232800	Enhancers	Primary monocytes fromperipheralblood	blood

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