Variant report

Variant	rs55979904
Chromosome Location	chr7:86559484-86559485
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:86540771..86562582-chr7:86776173..86789890,50	K562	blood:
2	chr7:86559198..86561965-chr7:86569480..86571738,3	K562	blood:
3	chr7:86557975..86562796-chr7:86779132..86784723,7	K562	blood:
4	chr7:86556959..86559941-chr7:86687542..86689348,2	MCF-7	breast:
5	chr7:86559085..86561840-chr7:86563741..86565276,2	MCF-7	breast:
6	chr7:86558868..86561676-chr7:86564507..86566575,2	K562	blood:
7	chr7:86558813..86561965-chr7:86568450..86571738,4	K562	blood:

Variant related genes	Relation type
ENSG00000135164	Chromatin interaction
ENSG00000224046	Chromatin interaction
ENSG00000164659	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11980329	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12704294	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12704296	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12704297	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36098544	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67263053	0.90[EUR][1000 genomes]
rs7781002	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788115	0.89[EUR][1000 genomes]
rs7797095	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS 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 miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
7	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv1802698	chr7:86539563-86560268	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86498400-86576200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:86507400-86561400	Weak transcription	Aorta	Aorta
3	chr7:86508000-86560800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:86508000-86566800	Weak transcription	Brain Anterior Caudate	brain
5	chr7:86518000-86568800	Weak transcription	Psoas Muscle	Psoas
6	chr7:86518000-86577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:86521000-86576400	Weak transcription	Hela-S3	cervix
8	chr7:86527000-86577000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:86527200-86575800	Weak transcription	Left Ventricle	heart
10	chr7:86530400-86568400	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:86531200-86568800	Weak transcription	Brain Angular Gyrus	brain
12	chr7:86539200-86578800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:86539600-86568000	Weak transcription	Fetal Brain Male	brain
14	chr7:86540800-86567400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:86541600-86568800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:86543200-86568800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:86543400-86571400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:86543600-86560800	Weak transcription	HUVEC	blood vessel
19	chr7:86543600-86566600	Weak transcription	Adipose Nuclei	Adipose
20	chr7:86551000-86576200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:86553400-86560600	Weak transcription	Pancreas	Pancrea
22	chr7:86554800-86568800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:86555000-86566600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:86555000-86577000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:86555400-86560800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:86555600-86561200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:86556000-86560400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:86556000-86560400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:86556000-86560600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:86556000-86565800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:86556200-86560400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:86556400-86562600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:86556800-86560800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:86558200-86562800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:86558600-86561400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:86559000-86559600	ZNF genes & repeats	GM12878-XiMat	blood
37	chr7:86559000-86560200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:86559200-86560800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr7:86559200-86561200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr7:86559400-86560600	Weak transcription	K562	blood

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