Variant report

Variant	rs498015
Chromosome Location	chr7:140775929-140775930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140767357..140769762-chr7:140774657..140776517,2	K562	blood:
2	chr7:140713242..140716757-chr7:140770540..140776348,9	MCF-7	breast:
3	chr7:140774318..140775981-chr7:140800025..140801816,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090263	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10233636	1.00[AMR][1000 genomes]
rs10237579	1.00[AMR][1000 genomes]
rs573472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6464117	1.00[AMR][1000 genomes]
rs6962987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6978536	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889248	chr7:140754785-140809205	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3417140	chr7:140768130-140783190	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140770600-140777000	Active TSS	Fetal Brain Female	brain
2	chr7:140770800-140776800	Active TSS	Brain Cingulate Gyrus	brain
3	chr7:140771000-140777000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr7:140771000-140777000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:140772000-140777000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:140774400-140776800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr7:140774800-140776200	Weak transcription	Psoas Muscle	Psoas
8	chr7:140774800-140776800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr7:140774800-140783200	Weak transcription	Pancreas	Pancrea
10	chr7:140775000-140776200	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:140775000-140776600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:140775000-140776600	Active TSS	Brain Angular Gyrus	brain
13	chr7:140775000-140776600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr7:140775600-140776000	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr7:140775600-140776000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr7:140775600-140776600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr7:140775600-140776600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:140775600-140776800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:140775800-140776000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:140775800-140776000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:140775800-140776000	Flanking Bivalent TSS/Enh	HSMMtube	muscle
22	chr7:140775800-140776200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:140775800-140776200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:140775800-140776200	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr7:140775800-140776200	Enhancers	Brain Substantia Nigra	brain
26	chr7:140775800-140776400	Flanking Active TSS	Fetal Brain Male	brain

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