Variant report

Variant	rs7701997
Chromosome Location	chr5:43277089-43277090
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43276038..43279820-chr5:43312022..43314782,3	K562	blood:

Variant related genes	Relation type
ENSG00000112972	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16873297	0.92[YRI][hapmap]
rs6451690	0.80[YRI][hapmap]
rs6863234	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6876470	1.00[YRI][hapmap]
rs6895713	1.00[YRI][hapmap]
rs7710485	1.00[AMR][1000 genomes]
rs7712325	1.00[YRI][hapmap];0.91[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	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
4	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
5	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43246600-43281400	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:43270200-43277400	Weak transcription	Brain Angular Gyrus	brain
3	chr5:43271200-43280200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:43273600-43279000	Enhancers	Fetal Heart	heart
5	chr5:43274400-43287000	Weak transcription	Left Ventricle	heart
6	chr5:43274600-43279200	Weak transcription	Brain Substantia Nigra	brain
7	chr5:43274600-43285000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:43274600-43286800	Weak transcription	Esophagus	oesophagus
9	chr5:43274800-43277200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:43274800-43286400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:43274800-43286600	Weak transcription	Stomach Mucosa	stomach
12	chr5:43275000-43279200	Weak transcription	Adipose Nuclei	Adipose
13	chr5:43275000-43279400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:43275000-43286400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:43275000-43286400	Weak transcription	GM12878-XiMat	blood
16	chr5:43275000-43286600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:43275200-43277200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:43275200-43277200	Weak transcription	K562	blood
19	chr5:43275600-43286400	Weak transcription	Fetal Brain Female	brain
20	chr5:43275800-43279000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:43275800-43286800	Weak transcription	Liver	Liver
22	chr5:43275800-43286800	Weak transcription	Gastric	stomach
23	chr5:43276600-43286200	Weak transcription	Brain Germinal Matrix	brain
24	chr5:43276600-43286600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:43276800-43278000	Strong transcription	Brain Anterior Caudate	brain

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