Variant report

Variant	rs6940683
Chromosome Location	chr6:150326978-150326979
allele	G/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	BHLHE40	chr6:150326114-150327095	HepG2	liver:	n/a	chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
2	USF1	chr6:150326781-150327103	A549	lung:	n/a	n/a
3	USF1	chr6:150326155-150327192	ECC-1	luminal epithelium:	n/a	chr6:150326498-150326509 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
4	USF1	chr6:150326169-150327130	H1-hESC	embryonic stem cell:	n/a	chr6:150326498-150326509 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
5	CREB1	chr6:150326093-150327159	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr6:150325996-150326987	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr6:150325864-150327004	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF2	chr6:150326966-150326983	HepG2	liver:	n/a	n/a
9	MAX	chr6:150325867-150327120	K562	blood:	n/a	chr6:150326745-150326755 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326954-150326963
10	MAZ	chr6:150325772-150327122	IMR90	lung:	n/a	chr6:150326745-150326755 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326954-150326963
11	EGR1	chr6:150326655-150326994	K562	blood:	n/a	chr6:150326740-150326755
12	MAX	chr6:150325862-150326984	A549	lung:	n/a	chr6:150326745-150326755 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326954-150326963
13	JUND	chr6:150326208-150327179	K562	blood:	n/a	chr6:150327126-150327137 chr6:150327129-150327139 chr6:150327129-150327139 chr6:150327130-150327138 chr6:150327129-150327139 chr6:150327129-150327139
14	CREB1	chr6:150326089-150327069	K562	blood:	n/a	n/a
15	CBX3	chr6:150326784-150327232	K562	blood:	n/a	n/a
16	USF1	chr6:150326087-150327126	K562	blood:	n/a	chr6:150326498-150326509 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
17	RCOR1	chr6:150325861-150327203	K562	blood:	n/a	n/a
18	MAZ	chr6:150325815-150327152	K562	blood:	n/a	chr6:150326745-150326755 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326954-150326963
19	SIN3A	chr6:150325634-150326983	H1-hESC	embryonic stem cell:	n/a	chr6:150326792-150326803 chr6:150325921-150325932
20	USF1	chr6:150325938-150327273	HCT-116	colon:	n/a	chr6:150326498-150326509 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
21	USF1	chr6:150326243-150327017	H1-hESC	embryonic stem cell:	n/a	chr6:150326498-150326509 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
22	SMARCB1	chr6:150325672-150327375	Hela-S3	cervix:	n/a	chr6:150327130-150327139
23	USF2	chr6:150326307-150327169	Hela-S3	cervix:	n/a	chr6:150326499-150326510 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
24	USF1	chr6:150326226-150327155	ECC-1	luminal epithelium:	n/a	chr6:150326498-150326509 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
25	CREB1	chr6:150326128-150327245	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr6:150325738-150327152	Hela-S3	cervix:	n/a	n/a
27	USF2	chr6:150326228-150327102	H1-hESC	embryonic stem cell:	n/a	chr6:150326499-150326510 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
28	CREB1	chr6:150326072-150327018	K562	blood:	n/a	n/a
29	SRF	chr6:150325646-150327039	HCT-116	colon:	n/a	chr6:150326458-150326472 chr6:150326455-150326472 chr6:150326457-150326470 chr6:150326455-150326473
30	HCFC1	chr6:150326130-150326992	K562	blood:	n/a	n/a
31	CTCF	chr6:150326940-150327090	SAEC	small airway:	n/a	n/a
32	USF1	chr6:150326798-150327045	SK-N-SH_RA	brain:	n/a	n/a
33	POLR2A	chr6:150325572-150327377	K562	blood:	n/a	n/a
34	GTF2F1	chr6:150326882-150327050	Hela-S3	cervix:	n/a	n/a
35	USF1	chr6:150326063-150327215	HCT-116	colon:	n/a	chr6:150326498-150326509 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
36	MAX	chr6:150325862-150327018	A549	lung:	n/a	chr6:150326745-150326755 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326954-150326963
37	USF1	chr6:150326875-150327112	HepG2	liver:	n/a	n/a
38	CUX1	chr6:150326862-150327085	K562	blood:	n/a	n/a
39	NR2F2	chr6:150325588-150327409	K562	blood:	n/a	n/a
40	SRF	chr6:150325549-150327363	HCT-116	colon:	n/a	chr6:150326458-150326472 chr6:150326455-150326472 chr6:150326457-150326470 chr6:150326455-150326473
41	USF1	chr6:150326847-150327074	SK-N-SH_RA	brain:	n/a	n/a
42	JUN	chr6:150325693-150327269	K562	blood:	n/a	chr6:150327126-150327137 chr6:150327129-150327139 chr6:150327129-150327139 chr6:150327130-150327138 chr6:150327129-150327139 chr6:150326060-150326069 chr6:150327129-150327139

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150283785..150286352-chr6:150326807..150328312,2	MCF-7	breast:

Variant related genes	Relation type
RAET1K	TF binding region
ENSG00000111981	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11155692	0.86[ASN][1000 genomes]
rs11155693	0.86[ASN][1000 genomes]
rs11964763	0.84[ASN][1000 genomes]
rs11967324	0.82[ASN][1000 genomes]
rs11967376	0.85[ASN][1000 genomes]
rs11967392	0.85[ASN][1000 genomes]
rs11969666	0.85[ASN][1000 genomes]
rs11969681	0.85[ASN][1000 genomes]
rs13192866	0.86[ASN][1000 genomes]
rs13199630	0.86[ASN][1000 genomes]
rs13214660	0.85[ASN][1000 genomes]
rs1830833	0.86[ASN][1000 genomes]
rs1853666	0.93[ASN][1000 genomes]
rs1853667	0.93[ASN][1000 genomes]
rs1886363	0.82[ASN][1000 genomes]
rs1889554	0.81[ASN][1000 genomes]
rs2224893	0.86[ASN][1000 genomes]
rs2275092	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2343265	0.84[ASN][1000 genomes]
rs3860819	0.86[ASN][1000 genomes]
rs3888034	0.87[ASN][1000 genomes]
rs3963990	0.96[ASN][1000 genomes]
rs4472362	0.84[ASN][1000 genomes]
rs7739781	0.86[ASN][1000 genomes]
rs7762217	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9322232	0.86[ASN][1000 genomes]
rs9371624	0.96[ASN][1000 genomes]
rs9383996	0.86[ASN][1000 genomes]
rs9384002	0.86[ASN][1000 genomes]
rs9384003	0.86[ASN][1000 genomes]
rs9384010	0.86[ASN][1000 genomes]
rs9384011	0.86[ASN][1000 genomes]
rs9384030	0.96[ASN][1000 genomes]
rs9384033	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9397517	0.86[ASN][1000 genomes]
rs9397521	0.85[ASN][1000 genomes]
rs9397541	0.95[ASN][1000 genomes]
rs942513	0.84[ASN][1000 genomes]
rs942514	0.84[ASN][1000 genomes]
rs9478336	0.85[ASN][1000 genomes]
rs9478352	0.94[EUR][1000 genomes]
rs9479328	0.86[ASN][1000 genomes]
rs9479329	0.86[ASN][1000 genomes]
rs9479330	0.86[ASN][1000 genomes]
rs9479331	0.86[ASN][1000 genomes]
rs9479332	0.86[ASN][1000 genomes]
rs9479339	0.85[ASN][1000 genomes]
rs9479340	0.85[ASN][1000 genomes]
rs9479341	0.85[ASN][1000 genomes]
rs9479343	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv970176	chr6:150319173-150343329	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv7375	chr6:150324114-150388625	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active 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
5	esv3344440	chr6:150324131-150388650	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh 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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150325200-150327000	Active TSS	Hela-S3	cervix
2	chr6:150325400-150327000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:150325400-150327000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr6:150325400-150327000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr6:150325400-150327000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:150325400-150327000	Flanking Active TSS	GM12878-XiMat	blood
7	chr6:150325400-150327200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:150325600-150327000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:150325600-150327000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr6:150325600-150327000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr6:150325600-150327000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:150325600-150327000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:150325600-150327000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:150325600-150327000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr6:150325600-150327000	Active TSS	Right Ventricle	heart
16	chr6:150325600-150327000	Bivalent/Poised TSS	Thymus	Thymus
17	chr6:150325600-150327200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr6:150325600-150327200	Active TSS	A549	lung
19	chr6:150325600-150327200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr6:150325600-150327400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:150325800-150327000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr6:150325800-150327000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:150325800-150327000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:150325800-150327000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:150325800-150327000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:150325800-150327000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:150325800-150327000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:150325800-150327000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr6:150325800-150327000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:150325800-150327000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:150325800-150327000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr6:150325800-150327000	Active TSS	Left Ventricle	heart
33	chr6:150325800-150327000	Active TSS	Psoas Muscle	Psoas
34	chr6:150325800-150327000	Active TSS	NHLF	lung
35	chr6:150325800-150327200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:150325800-150327200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:150325800-150327200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr6:150325800-150327200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
39	chr6:150325800-150327200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
40	chr6:150325800-150327200	Active TSS	HSMM	muscle
41	chr6:150325800-150328000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr6:150326000-150327000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr6:150326000-150327000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:150326000-150327000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:150326000-150327000	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr6:150326000-150327000	Active TSS	Primary T cells from cord blood	blood
47	chr6:150326000-150327000	Active TSS	Brain Angular Gyrus	brain
48	chr6:150326000-150327000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
49	chr6:150326000-150327000	Active TSS	Brain Substantia Nigra	brain
50	chr6:150326000-150327000	Bivalent/Poised TSS	Colonic Mucosa	Colon

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