Variant report

Variant	rs885689
Chromosome Location	chr7:39500352-39500353
allele	C/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	POLR2A	chr7:39500302-39500371	MCF-7	breast:	n/a	n/a
2	POLR2A	chr7:39500219-39500398	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39493293..39495900-chr7:39499088..39502872,3	K562	blood:
2	chr7:39498982..39501819-chr7:39501974..39504808,2	K562	blood:

Variant related genes	Relation type
POU6F2	TF binding region
ENSG00000106536	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10233706	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10261375	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12533673	0.88[CEU][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2024104	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2052017	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2052018	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2052019	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2108717	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2282915	0.88[CEU][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4720324	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4723864	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4723865	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6960142	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs763894	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][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	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv966782	chr7:39454992-39581886	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
5	esv1797871	chr7:39499852-39503496	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39485800-39502000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:39492000-39504800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:39493800-39500800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:39494000-39500800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:39497200-39503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:39498200-39504600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:39498600-39500600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:39499200-39504800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:39499400-39504400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:39499600-39501000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:39499600-39501600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:39499600-39501800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:39499600-39501800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:39499600-39504400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:39499800-39501000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:39499800-39501000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:39499800-39501400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:39500000-39500600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:39500200-39500600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:39500200-39500600	Enhancers	Fetal Brain Male	brain
21	chr7:39500200-39500600	Weak transcription	K562	blood

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