Variant report

Variant	rs971485
Chromosome Location	chr7:87570699-87570700
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87563540..87565297-chr7:87569900..87572120,2	MCF-7	breast:
2	chr7:87562597..87564742-chr7:87568928..87571613,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000008277	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10486998	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12666125	1.00[AMR][1000 genomes]
rs12666563	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12666742	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12667129	1.00[AMR][1000 genomes]
rs12668088	1.00[AMR][1000 genomes]
rs12669259	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12670317	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12670560	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12674310	1.00[AMR][1000 genomes]
rs16885871	1.00[AMR][1000 genomes]
rs17146782	1.00[AMR][1000 genomes]
rs17146787	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17149866	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17149905	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17149907	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17149925	0.83[ASN][1000 genomes]
rs17149933	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17149957	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17149966	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17150051	1.00[CHB][hapmap];0.82[JPT][hapmap];0.97[ASN][1000 genomes]
rs17150134	1.00[AMR][1000 genomes]
rs2188829	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2237536	1.00[AMR][1000 genomes]
rs2237538	1.00[AMR][1000 genomes]
rs2282944	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2282945	1.00[AMR][1000 genomes]
rs2282946	1.00[AMR][1000 genomes]
rs2285648	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2299191	1.00[AMR][1000 genomes]
rs28381715	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3213633	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs36187880	1.00[AMR][1000 genomes]
rs3747802	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3810881	1.00[AMR][1000 genomes]
rs4728719	1.00[AMR][1000 genomes]
rs4728721	1.00[AMR][1000 genomes]
rs4728723	1.00[AMR][1000 genomes]
rs4728728	1.00[AMR][1000 genomes]
rs4728729	1.00[AMR][1000 genomes]
rs973445	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv888696	chr7:87526944-87594188	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv525073	chr7:87535096-87812968	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3343288	chr7:87547350-87571066	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87564800-87572200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:87564800-87573800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:87565000-87572200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:87565000-87572200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:87565000-87572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:87565000-87573200	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:87565200-87573600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:87565200-87580600	Weak transcription	Brain Anterior Caudate	brain
9	chr7:87565200-87582400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:87565200-87588000	Weak transcription	Fetal Brain Male	brain
11	chr7:87565400-87571800	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:87565400-87573400	Weak transcription	Brain Angular Gyrus	brain
13	chr7:87565800-87580600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:87566200-87577200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:87567000-87571400	Strong transcription	Dnd41	blood
16	chr7:87568600-87578400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:87568800-87571000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:87568800-87573800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:87569200-87589600	Weak transcription	Fetal Lung	lung
20	chr7:87569600-87571800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:87570400-87571200	Enhancers	Fetal Heart	heart
22	chr7:87570600-87570800	Flanking Active TSS	GM12878-XiMat	blood

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