Variant report

Variant	rs6468862
Chromosome Location	chr8:104175576-104175577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104173267..104175979-chr8:104189209..104191370,2	K562	blood:
2	chr8:104174608..104177448-chr8:104227251..104229370,2	MCF-7	breast:
3	chr8:104167543..104169124-chr8:104174251..104177179,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11781628	1.00[CHD][hapmap]
rs17802089	1.00[CHB][hapmap]
rs62527635	0.85[ASN][1000 genomes]
rs6468863	1.00[ASN][1000 genomes]
rs7006682	1.00[CHB][hapmap]
rs7009527	0.85[ASN][1000 genomes]
rs72671378	0.85[ASN][1000 genomes]
rs903296	1.00[ASN][1000 genomes]
rs903297	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6468862	GRHL2	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104154000-104177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:104165000-104176400	Weak transcription	NHDF-Ad	bronchial
3	chr8:104165000-104176600	Weak transcription	Osteobl	bone
4	chr8:104166200-104179800	Weak transcription	Spleen	Spleen
5	chr8:104166600-104178800	Weak transcription	Fetal Brain Male	brain
6	chr8:104169000-104177000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:104169000-104177000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:104169000-104177000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:104169200-104176600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:104169200-104177200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:104169400-104177600	Weak transcription	Brain Angular Gyrus	brain
12	chr8:104171000-104176600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:104172600-104176800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:104172600-104178000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:104173200-104175800	Strong transcription	Primary hematopoietic stem cells	blood
16	chr8:104173800-104175600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:104174000-104175800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:104174200-104175800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:104174400-104177400	Weak transcription	Aorta	Aorta
20	chr8:104174600-104175600	Strong transcription	Brain Hippocampus Middle	brain
21	chr8:104175200-104178800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:104175400-104176000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:104175400-104177600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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