Variant report

Variant	rs473805
Chromosome Location	chr6:74268249-74268250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74229152..74230830-chr6:74267038..74269004,2	MCF-7	breast:
2	chr6:74228296..74231283-chr6:74268216..74270797,2	K562	blood:
3	chr6:74265978..74268352-chr6:74362467..74364579,2	K562	blood:
4	chr6:74232212..74233957-chr6:74267388..74270040,2	K562	blood:

Variant related genes	Relation type
ENSG00000229862	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000156508	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1691356	0.82[EUR][1000 genomes]
rs1741885	0.84[EUR][1000 genomes]
rs1874229	0.84[ASN][1000 genomes]
rs2643198	0.85[EUR][1000 genomes]
rs4708062	0.84[ASN][1000 genomes]
rs534562	0.81[EUR][1000 genomes]
rs617464	0.86[ASN][1000 genomes]
rs642722	0.88[ASN][1000 genomes]
rs656724	0.84[EUR][1000 genomes]
rs9343053	0.84[EUR][1000 genomes]
rs9343054	0.83[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	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
10	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
11	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
12	nsv527357	chr6:74253266-74325403	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74265600-74269600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:74265800-74269600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:74266000-74275400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:74266400-74269200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:74266400-74269400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:74266600-74270400	Enhancers	HepG2	liver
7	chr6:74266800-74268400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:74266800-74268600	Enhancers	Brain Substantia Nigra	brain
9	chr6:74266800-74269400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:74266800-74270400	Weak transcription	Brain Angular Gyrus	brain
11	chr6:74267000-74269200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:74267200-74268800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:74267200-74269200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:74267200-74269400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:74267200-74273800	Weak transcription	K562	blood
16	chr6:74267400-74268400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:74267400-74268400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:74267400-74269200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:74267600-74269000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:74267600-74270200	Weak transcription	Brain Anterior Caudate	brain
21	chr6:74267800-74268400	Weak transcription	HSMMtube	muscle
22	chr6:74267800-74270200	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:74268000-74269000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:74268000-74270200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:74268200-74269400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:74268200-74269400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:74268200-74269400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:74268200-74270200	Enhancers	GM12878-XiMat	blood

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