Variant report

Variant	rs61348187
Chromosome Location	chr5:115156752-115156753
allele	A/C
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	chr5:115156553-115156888	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr5:115156533-115156929	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:115155859..115157988-chr5:115170208..115172914,2	K562	blood:
2	chr5:115147604..115151631-chr5:115153233..115156768,4	K562	blood:
3	chr5:114972992..114975914-chr5:115155123..115157177,2	MCF-7	breast:
4	chr5:115156222..115160428-chr5:115162227..115164620,4	K562	blood:

Variant related genes	Relation type
CDO1	TF binding region
ENSG00000145782	Chromatin interaction
ENSG00000129596	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11949720	0.88[AFR][1000 genomes]
rs34916121	0.80[AFR][1000 genomes]
rs56997929	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58119889	0.97[AFR][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	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115152800-115171200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:115153200-115169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:115153400-115164400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:115153400-115164400	Weak transcription	Adipose Nuclei	Adipose
5	chr5:115153600-115161800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:115153600-115163800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:115153600-115172400	Weak transcription	Fetal Brain Male	brain
8	chr5:115154000-115163800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:115154200-115163800	Weak transcription	Liver	Liver
10	chr5:115154400-115169600	Weak transcription	Brain Angular Gyrus	brain
11	chr5:115154600-115173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:115154800-115169200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:115155000-115163600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:115155000-115164000	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:115155000-115169200	Weak transcription	Brain Anterior Caudate	brain
16	chr5:115155000-115169800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:115155000-115174400	Weak transcription	Fetal Heart	heart
18	chr5:115155200-115167200	Weak transcription	Brain Substantia Nigra	brain
19	chr5:115155200-115169400	Weak transcription	Brain Germinal Matrix	brain
20	chr5:115155800-115158000	Enhancers	Primary neutrophils fromperipheralblood	blood

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