Variant report

Variant	rs9446918
Chromosome Location	chr6:74234160-74234161
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	KAP1	chr6:74232741-74234215	HEK293	kidney:	n/a	n/a
2	FOXA2	chr6:74233708-74234170	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:74232617-74234216	GM12891	blood:	n/a	n/a
4	FOXA1	chr6:74233658-74234229	HepG2	liver:	n/a	chr6:74233993-74234008 chr6:74234011-74234026
5	TEAD4	chr6:74233638-74234233	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:74227636-74234221	GM18505	blood:	n/a	n/a
7	MTA3	chr6:74232459-74234267	GM12878	blood:	n/a	n/a
8	FOXA2	chr6:74233770-74234258	A549	lung:	n/a	n/a
9	POLR2A	chr6:74232677-74234279	PFSK-1	brain:	n/a	n/a
10	MAX	chr6:74233031-74234340	HCT-116	colon:	n/a	n/a
11	FOXA1	chr6:74233676-74234293	HepG2	liver:	n/a	chr6:74233993-74234008 chr6:74234011-74234026
12	TBP	chr6:74233092-74234167	Hela-S3	cervix:	n/a	n/a
13	FOXA1	chr6:74233768-74234163	T-47D	breast:	n/a	chr6:74233993-74234008 chr6:74234011-74234026
14	POLR2A	chr6:74221444-74234199	GM12878	blood:	n/a	n/a
15	FOXA2	chr6:74233437-74234504	HepG2	liver:	n/a	n/a
16	MYBL2	chr6:74232927-74234202	HepG2	liver:	n/a	n/a
17	NFIC	chr6:74233002-74234195	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:74227463-74234273	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr6:74223571-74234182	K562	blood:	n/a	n/a
20	POLR2A	chr6:74232178-74234298	HepG2	liver:	n/a	n/a
21	POLR2A	chr6:74232483-74234195	HCT-116	colon:	n/a	n/a
22	MAFK	chr6:74233311-74234172	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:74221323..74236726-chr6:74306065..74338770,101	K562	blood:
2	chr6:74228067..74234767-chr6:74357105..74365312,16	MCF-7	breast:
3	chr6:74219718..74234750-chr6:74354945..74369231,56	K562	blood:
4	chr6:74220976..74234980-chr6:74352572..74366941,62	K562	blood:
5	chr6:74173927..74176189-chr6:74233825..74235333,2	MCF-7	breast:

Variant related genes	Relation type
EEF1A1	TF binding region
ENSG00000135297	Chromatin interaction
ENSG00000218459	Chromatin interaction
ENSG00000119899	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10080274	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10223454	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16883805	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2036040	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59796880	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62438405	0.86[AFR][1000 genomes]
rs6453674	0.82[ASN][1000 genomes]
rs6453675	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6453678	0.84[AFR][1000 genomes]
rs6902599	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6917928	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6921927	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7768980	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs903516	0.82[ASN][1000 genomes]
rs903517	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9442913	0.84[ASN][1000 genomes]
rs9442914	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9442915	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9442917	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9442920	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9446909	0.82[ASN][1000 genomes]
rs9446914	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9446915	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs9446916	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9446920	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74230800-74234200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:74231400-74234200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr6:74231600-74234400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:74232600-74234200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr6:74232600-74234400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:74233000-74234200	Active TSS	HepG2	liver
7	chr6:74233400-74234200	Flanking Active TSS	HMEC	breast
8	chr6:74233600-74234200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr6:74233600-74234200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr6:74233600-74234200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:74233600-74234200	Flanking Active TSS	A549	lung
12	chr6:74233600-74234200	Flanking Active TSS	GM12878-XiMat	blood
13	chr6:74233600-74234200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr6:74233600-74234200	Flanking Active TSS	NHEK	skin
15	chr6:74233600-74234400	Flanking Active TSS	Dnd41	blood
16	chr6:74233600-74238200	Weak transcription	Gastric	stomach
17	chr6:74233800-74234200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:74233800-74234200	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr6:74233800-74234200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr6:74233800-74234200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr6:74233800-74234200	Flanking Active TSS	Fetal Kidney	kidney
22	chr6:74233800-74234200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr6:74233800-74234200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr6:74233800-74234200	Flanking Active TSS	Hela-S3	cervix
25	chr6:74233800-74234200	Flanking Active TSS	K562	blood
26	chr6:74233800-74234400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:74234000-74234200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:74234000-74234200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:74234000-74234200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:74234000-74234200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:74234000-74234200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:74234000-74234200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr6:74234000-74234200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:74234000-74234200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:74234000-74234200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr6:74234000-74234200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:74234000-74234200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr6:74234000-74234200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:74234000-74234200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:74234000-74234200	Enhancers	Adipose Nuclei	Adipose
41	chr6:74234000-74234200	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr6:74234000-74234200	Enhancers	Fetal Stomach	stomach
43	chr6:74234000-74234200	Enhancers	Stomach Smooth Muscle	stomach
44	chr6:74234000-74234200	Enhancers	HUVEC	blood vessel
45	chr6:74234000-74234400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:74234000-74234400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr6:74234000-74234400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr6:74234000-74234400	Enhancers	Primary B cells from peripheral blood	blood
49	chr6:74234000-74234400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr6:74234000-74234400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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