Variant report

Variant	rs6934218
Chromosome Location	chr6:106809153-106809154
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	MAX	chr6:106808099-106809400	H1-hESC	embryonic stem cell:	n/a	chr6:106808130-106808141 chr6:106808951-106808962 chr6:106808657-106808667
2	ZNF263	chr6:106808086-106809452	HEK293-T-REx	kidney:	n/a	chr6:106808989-106809010 chr6:106808766-106808775
3	MAX	chr6:106807808-106809623	HCT-116	colon:	n/a	chr6:106808130-106808141 chr6:106808951-106808962 chr6:106807906-106807915 chr6:106808657-106808667
4	HDAC2	chr6:106807906-106809465	MCF-7	breast:	n/a	n/a
5	MAX	chr6:106808004-106809683	MCF-7	breast:	n/a	chr6:106808130-106808141 chr6:106808951-106808962 chr6:106808657-106808667
6	MAX	chr6:106808055-106809421	ECC-1	luminal epithelium:	n/a	chr6:106808130-106808141 chr6:106808951-106808962 chr6:106808657-106808667
7	NR2F2	chr6:106808056-106809166	MCF-7	breast:	n/a	n/a
8	CTBP2	chr6:106808131-106809411	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr6:106808061-106809417	H1-hESC	embryonic stem cell:	n/a	chr6:106808130-106808141 chr6:106808951-106808962 chr6:106808657-106808667
10	SRF	chr6:106808272-106809214	ECC-1	luminal epithelium:	n/a	chr6:106808657-106808667
11	SIN3AK20	chr6:106808112-106809160	MCF-7	breast:	n/a	n/a
12	POLR2A	chr6:106809115-106809156	H1-hESC	embryonic stem cell:	n/a	n/a
13	SPI1	chr6:106809034-106809274	GM12891	blood:	n/a	n/a
14	MAX	chr6:106808018-106809471	ECC-1	luminal epithelium:	n/a	chr6:106808130-106808141 chr6:106808951-106808962 chr6:106808657-106808667
15	POLR2A	chr6:106808108-106809313	MCF-7	breast:	n/a	n/a
16	EGR1	chr6:106809056-106809293	K562	blood:	n/a	chr6:106809176-106809198
17	HA-E2F1	chr6:106808002-106809577	MCF-7	breast:	n/a	chr6:106808562-106808571 chr6:106808659-106808668 chr6:106808891-106808901 chr6:106808888-106808898 chr6:106808934-106808944 chr6:106809292-106809304
18	SPI1	chr6:106808969-106809702	HL-60	blood:	n/a	n/a
19	MYC	chr6:106809073-106809264	MCF-7	breast:	n/a	n/a
20	ZEB1	chr6:106808088-106809217	HepG2	liver:	n/a	chr6:106808704-106808715 chr6:106808954-106808961 chr6:106808500-106808507 chr6:106808473-106808480 chr6:106808703-106808716 chr6:106808706-106808715 chr6:106809068-106809076
21	EGR1	chr6:106809043-106809269	K562	blood:	n/a	chr6:106809176-106809198
22	MYC	chr6:106809056-106809260	MCF10A-Er-Src	breast:	n/a	n/a
23	SIN3A	chr6:106808182-106809373	H1-hESC	embryonic stem cell:	n/a	chr6:106808786-106808799 chr6:106808323-106808332 chr6:106808733-106808744
24	E2F4	chr6:106809153-106809471	MCF10A-Er-Src	breast:	n/a	chr6:106809292-106809304
25	MAX	chr6:106807995-106809273	MCF-7	breast:	n/a	chr6:106808130-106808141 chr6:106808951-106808962 chr6:106808657-106808667
26	POLR2A	chr6:106808506-106809606	MCF10A-Er-Src	breast:	n/a	n/a
27	ZBTB7A	chr6:106808188-106809322	ECC-1	luminal epithelium:	n/a	chr6:106808514-106808521
28	POLR2A	chr6:106808148-106809263	MCF-7	breast:	n/a	n/a
29	E2F6	chr6:106808779-106809548	H1-hESC	embryonic stem cell:	n/a	chr6:106808891-106808901 chr6:106808888-106808898 chr6:106808934-106808944 chr6:106809292-106809304
30	MYC	chr6:106809110-106809263	MCF-7	breast:	n/a	n/a
31	ZEB1	chr6:106808180-106809219	GM12878	blood:	n/a	chr6:106808704-106808715 chr6:106808954-106808961 chr6:106808500-106808507 chr6:106808473-106808480 chr6:106808703-106808716 chr6:106808706-106808715 chr6:106809068-106809076
32	MXI1	chr6:106809106-106809403	H1-hESC	embryonic stem cell:	n/a	n/a
33	TBP	chr6:106808051-106809333	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZBTB7A	chr6:106808109-106809265	ECC-1	luminal epithelium:	n/a	chr6:106808514-106808521

No.	Distal block	Cell Line	Cell type
1	chr6:106807797..106809564-chr6:106892316..106894790,2	MCF-7	breast:
2	chr6:106808617..106811340-chr6:106821545..106823616,2	MCF-7	breast:
3	chr6:106807691..106810089-chr6:106811513..106814878,6	MCF-7	breast:
4	chr6:106797423..106799839-chr6:106808275..106811190,3	MCF-7	breast:
5	chr6:106783081..106786779-chr6:106807913..106810095,3	MCF-7	breast:
6	chr6:106788817..106792867-chr6:106807861..106810730,3	MCF-7	breast:
7	chr6:106808965..106810935-chr6:106838431..106840040,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233941	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs472824	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs515653	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs520009	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs593310	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs654127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs685907	0.97[EUR][1000 genomes]
rs710092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs710093	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs782674	0.90[AFR][1000 genomes]
rs9386532	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][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	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1025510	chr6:106791080-106982400	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv538404	chr6:106791080-106982400	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1031707	chr6:106803325-106896650	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106807800-106809400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
2	chr6:106807800-106809600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:106807800-106809600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:106807800-106809800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:106808000-106809200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:106808000-106809200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:106808000-106809200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:106808000-106809200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:106808000-106809200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:106808000-106809200	Bivalent Enhancer	Fetal Brain Male	brain
11	chr6:106808000-106809200	Bivalent Enhancer	Fetal Heart	heart
12	chr6:106808000-106809200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr6:106808000-106809400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:106808000-106809400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:106808000-106809400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
16	chr6:106808000-106809400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:106808000-106809400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
18	chr6:106808000-106809400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:106808000-106809400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:106808000-106809400	Active TSS	Fetal Kidney	kidney
21	chr6:106808000-106809600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:106808000-106809600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
23	chr6:106808000-106810200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:106808200-106809200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:106808200-106809200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:106808200-106809200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
27	chr6:106808200-106809200	Flanking Active TSS	Liver	Liver
28	chr6:106808200-106809200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr6:106808200-106809200	Flanking Active TSS	Gastric	stomach
30	chr6:106808200-106809200	Flanking Active TSS	Lung	lung
31	chr6:106808200-106809200	Flanking Bivalent TSS/Enh	Sigmoid Colon	Sigmoid Colon
32	chr6:106808200-106809200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr6:106808200-106809400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:106808200-106809400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr6:106808200-106809400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
36	chr6:106808200-106809400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr6:106808200-106809400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
38	chr6:106808200-106809400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr6:106808200-106809400	Bivalent/Poised TSS	HepG2	liver
40	chr6:106808200-106809600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
41	chr6:106808400-106809200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:106808400-106809200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
43	chr6:106808400-106809200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:106808400-106809200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:106808400-106809200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:106808400-106809200	Active TSS	Brain Substantia Nigra	brain
47	chr6:106808400-106809200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
48	chr6:106808400-106809200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
49	chr6:106808400-106809200	Active TSS	Pancreas	Pancrea
50	chr6:106808400-106809200	Active TSS	Rectal Mucosa Donor 31	rectum

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