Variant report

Variant	rs973445
Chromosome Location	chr7:87569241-87569242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87562597..87564742-chr7:87568928..87571613,2	MCF-7	breast:
2	chr7:87566977..87569850-chr7:87573658..87575499,2	K562	blood:

Variant related genes	Relation type
ENSG00000008277	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10486998	0.91[ASN][1000 genomes]
rs12666563	0.97[ASN][1000 genomes]
rs12666742	0.97[ASN][1000 genomes]
rs12669259	1.00[ASN][1000 genomes]
rs12670317	0.86[ASN][1000 genomes]
rs12670560	0.86[ASN][1000 genomes]
rs17146787	0.97[ASN][1000 genomes]
rs17149866	0.86[ASN][1000 genomes]
rs17149905	0.83[ASN][1000 genomes]
rs17149907	0.83[ASN][1000 genomes]
rs17149925	0.86[ASN][1000 genomes]
rs17149933	0.86[ASN][1000 genomes]
rs17149957	0.86[ASN][1000 genomes]
rs17149966	0.86[ASN][1000 genomes]
rs17150051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2188829	0.91[ASN][1000 genomes]
rs2282944	0.91[ASN][1000 genomes]
rs2285648	0.91[ASN][1000 genomes]
rs28381715	0.86[ASN][1000 genomes]
rs3213633	0.86[ASN][1000 genomes]
rs3747802	0.86[ASN][1000 genomes]
rs971485	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87564800-87570000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:87564800-87572200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:87564800-87573800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:87565000-87570000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:87565000-87570400	Weak transcription	Fetal Thymus	thymus
6	chr7:87565000-87572200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:87565000-87572200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:87565000-87572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:87565000-87573200	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:87565200-87569800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:87565200-87570000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:87565200-87570400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:87565200-87573600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:87565200-87580600	Weak transcription	Brain Anterior Caudate	brain
15	chr7:87565200-87582400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:87565200-87588000	Weak transcription	Fetal Brain Male	brain
17	chr7:87565400-87570200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:87565400-87571800	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:87565400-87573400	Weak transcription	Brain Angular Gyrus	brain
20	chr7:87565600-87569800	Weak transcription	Fetal Brain Female	brain
21	chr7:87565600-87570400	Weak transcription	Brain Germinal Matrix	brain
22	chr7:87565800-87580600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:87566000-87570600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:87566200-87569600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:87566200-87577200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:87567000-87571400	Strong transcription	Dnd41	blood
27	chr7:87567200-87569800	Weak transcription	GM12878-XiMat	blood
28	chr7:87568400-87569400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:87568600-87578400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:87568800-87571000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:87568800-87573800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:87569200-87569400	Enhancers	Fetal Intestine Large	intestine
33	chr7:87569200-87589600	Weak transcription	Fetal Lung	lung

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