Variant report

Variant	rs2243311
Chromosome Location	chr7:150689970-150689971
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	YY1	chr7:150689823-150690231	K562	blood:	n/a	n/a
2	ETS1	chr7:150689761-150690246	A549	lung:	n/a	chr7:150689949-150689962 chr7:150689831-150689838 chr7:150690018-150690031
3	ETS1	chr7:150689725-150690162	GM12878	blood:	n/a	chr7:150689949-150689962 chr7:150689831-150689838 chr7:150690018-150690031
4	ETS1	chr7:150689790-150690166	A549	lung:	n/a	chr7:150689949-150689962 chr7:150689831-150689838 chr7:150690018-150690031
5	SIX5	chr7:150689682-150690240	K562	blood:	n/a	chr7:150690019-150690028 chr7:150690018-150690032 chr7:150690021-150690030
6	SIN3A	chr7:150689812-150690191	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr7:150689787-150690173	GM12878	blood:	n/a	n/a
8	SIX5	chr7:150689753-150690192	H1-hESC	embryonic stem cell:	n/a	chr7:150690019-150690028 chr7:150690018-150690032 chr7:150690021-150690030
9	POLR2A	chr7:150689794-150690224	HUVEC	blood vessel:	n/a	n/a
10	HCFC1	chr7:150689542-150690353	K562	blood:	n/a	n/a
11	JUN	chr7:150689041-150690814	K562	blood:	n/a	chr7:150690204-150690212 chr7:150689336-150689344 chr7:150689337-150689344 chr7:150690200-150690211 chr7:150689699-150689708 chr7:150689334-150689346 chr7:150689336-150689345 chr7:150690675-150690684 chr7:150689335-150689345 chr7:150690205-150690212
12	FOS	chr7:150689908-150690671	HUVEC	blood vessel:	n/a	chr7:150690204-150690212 chr7:150690200-150690211 chr7:150690205-150690212
13	ZMIZ1	chr7:150689873-150690223	K562	blood:	n/a	n/a
14	MYC	chr7:150689916-150690155	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr7:150689738-150692203	HUVEC	blood vessel:	n/a	n/a
16	RUNX3	chr7:150689838-150690092	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:150689920-150690099	K562	blood:	n/a	n/a
18	EP300	chr7:150689833-150690245	K562	blood:	n/a	n/a
19	STAT3	chr7:150689926-150690026	MCF10A-Er-Src	breast:	n/a	chr7:150690015-150690023
20	MYC	chr7:150689909-150690072	MCF-7	breast:	n/a	n/a
21	YY1	chr7:150689909-150690087	A549	lung:	n/a	n/a
22	SIX5	chr7:150689789-150690249	GM12878	blood:	n/a	chr7:150690019-150690028 chr7:150690018-150690032 chr7:150690021-150690030
23	TBL1XR1	chr7:150689800-150690166	K562	blood:	n/a	n/a
24	MAZ	chr7:150689853-150690048	HepG2	liver:	n/a	n/a
25	CTCF	chr7:150689850-150690084	K562	blood:	n/a	chr7:150690051-150690060
26	YY1	chr7:150689795-150690297	K562	blood:	n/a	n/a
27	ELF1	chr7:150689867-150690246	GM12878	blood:	n/a	n/a
28	TBP	chr7:150689853-150690223	K562	blood:	n/a	n/a
29	ETS1	chr7:150689838-150690246	K562	blood:	n/a	chr7:150689949-150689962 chr7:150690018-150690031
30	HCFC1	chr7:150689712-150690184	Hela-S3	cervix:	n/a	n/a
31	RCOR1	chr7:150689834-150690202	K562	blood:	n/a	n/a
32	CREB1	chr7:150689823-150690072	A549	lung:	n/a	n/a
33	MYC	chr7:150689916-150690104	K562	blood:	n/a	n/a
34	BCLAF1	chr7:150689773-150690121	GM12878	blood:	n/a	n/a
35	JUN	chr7:150689793-150690291	K562	blood:	n/a	chr7:150690204-150690212 chr7:150690200-150690211 chr7:150690205-150690212
36	SIX5	chr7:150689740-150690184	A549	lung:	n/a	chr7:150690019-150690028 chr7:150690018-150690032 chr7:150690021-150690030
37	ZNF384	chr7:150689828-150690195	K562	blood:	n/a	n/a
38	GTF2F1	chr7:150689899-150690093	K562	blood:	n/a	n/a
39	ZBTB7A	chr7:150689555-150690935	K562	blood:	n/a	n/a
40	MAX	chr7:150689857-150690186	K562	blood:	n/a	n/a
41	MYC	chr7:150689810-150690178	K562	blood:	n/a	n/a
42	MAFF	chr7:150689824-150690042	K562	blood:	n/a	n/a
43	ELF1	chr7:150689793-150690442	K562	blood:	n/a	n/a
44	NR2F2	chr7:150689618-150692224	K562	blood:	n/a	n/a
45	MYC	chr7:150689818-150690162	NB4	blood:	n/a	n/a
46	TEAD4	chr7:150689688-150690553	K562	blood:	n/a	n/a
47	ETS1	chr7:150689764-150690143	GM12878	blood:	n/a	chr7:150689949-150689962 chr7:150689831-150689838 chr7:150690018-150690031
48	MAX	chr7:150689849-150690250	K562	blood:	n/a	n/a
49	YY1	chr7:150689807-150690138	GM12878	blood:	n/a	n/a
50	YY1	chr7:150689792-150690165	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150689613..150692426-chr7:150754513..150757333,2	MCF-7	breast:
2	chr7:150685447..150688325-chr7:150688449..150691508,3	MCF-7	breast:
3	chr7:150688771..150691560-chr7:150756219..150758072,2	MCF-7	breast:

Variant related genes	Relation type
NOS3	TF binding region
ENSG00000164867	Chromatin interaction
ENSG00000164885	Chromatin interaction
ENSG00000164889	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3918164	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
4	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh 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	21 gene(s)	inside rSNPs	diseases
7	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
11	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
12	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
14	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv889470	chr7:150667210-150696111	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150684800-150690400	Enhancers	Spleen	Spleen
2	chr7:150685600-150690200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:150686000-150690200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:150686200-150698000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:150686400-150690000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:150686400-150690000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:150686600-150691000	Weak transcription	Brain Anterior Caudate	brain
8	chr7:150687000-150690000	Weak transcription	Fetal Heart	heart
9	chr7:150687000-150690400	Weak transcription	Fetal Lung	lung
10	chr7:150687200-150690000	Weak transcription	Right Atrium	heart
11	chr7:150687200-150690400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:150687200-150690800	Weak transcription	Left Ventricle	heart
13	chr7:150687400-150690800	Weak transcription	Right Ventricle	heart
14	chr7:150688600-150690000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:150688600-150690200	Weak transcription	Primary T cells from cord blood	blood
16	chr7:150688600-150690800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:150688800-150690000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:150688800-150697200	Weak transcription	Pancreas	Pancrea
19	chr7:150689200-150690800	Enhancers	HUVEC	blood vessel
20	chr7:150689200-150691000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:150689200-150691400	Enhancers	K562	blood
22	chr7:150689400-150690800	Enhancers	Lung	lung
23	chr7:150689600-150690400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:150689600-150690600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:150689600-150692200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:150689800-150690000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:150689800-150690000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:150689800-150690400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr7:150689800-150690400	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr7:150689800-150690600	Enhancers	Fetal Muscle Leg	muscle
31	chr7:150689800-150691000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:150689800-150691000	Enhancers	Fetal Stomach	stomach
33	chr7:150689800-150691200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:150689800-150691600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:150689800-150692600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:150689800-150692600	Flanking Active TSS	Placenta	Placenta

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