Variant report

Variant	rs7455629
Chromosome Location	chr7:139480875-139480876
allele	A/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	chr7:139480865-139480901	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:139475001..139479565-chr7:139480473..139485413,11	MCF-7	breast:
2	chr7:139479210..139481182-chr7:139491846..139493959,3	K562	blood:

Variant related genes	Relation type
HIPK2	TF binding region
ENSG00000059377	Chromatin interaction
ENSG00000064393	Chromatin interaction

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

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

rs_ID	r²[population]
rs10228448	0.80[AFR][1000 genomes]
rs10228830	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs10257315	0.86[AFR][1000 genomes]
rs10257659	0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs10261622	0.88[AFR][1000 genomes]
rs10261757	0.90[YRI][hapmap];0.88[AFR][1000 genomes]
rs10274540	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs60526073	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6947799	0.81[AFR][1000 genomes]
rs6963553	0.90[YRI][hapmap];0.88[AFR][1000 genomes]
rs6964028	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs6972460	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs73735621	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7810177	0.90[YRI][hapmap];0.88[AFR][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	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139478600-139483000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:139478600-139483400	Weak transcription	Gastric	stomach
3	chr7:139478600-139485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:139478800-139482600	Enhancers	Esophagus	oesophagus
5	chr7:139478800-139483000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:139478800-139485600	Weak transcription	Aorta	Aorta
7	chr7:139479000-139482400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:139479000-139497400	Weak transcription	NH-A	brain
9	chr7:139479200-139481800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:139479200-139483000	Weak transcription	Liver	Liver
11	chr7:139479200-139483000	Weak transcription	Brain Substantia Nigra	brain
12	chr7:139479200-139483000	Weak transcription	Fetal Kidney	kidney
13	chr7:139479200-139483200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:139479200-139483200	Weak transcription	Stomach Mucosa	stomach
15	chr7:139479200-139483200	Weak transcription	A549	lung
16	chr7:139479200-139483400	Weak transcription	Brain Anterior Caudate	brain
17	chr7:139479400-139482000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:139479400-139483000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:139479400-139483200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:139479400-139483400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:139479600-139482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:139479800-139482400	Weak transcription	NHEK	skin
23	chr7:139479800-139483000	Weak transcription	HMEC	breast
24	chr7:139479800-139483400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:139480200-139482200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:139480200-139490000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:139480400-139482000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:139480600-139481000	Enhancers	Adipose Nuclei	Adipose
29	chr7:139480600-139483200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:139480800-139482800	Enhancers	HepG2	liver
31	chr7:139480800-139489200	Weak transcription	Thymus	Thymus

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