Variant report

Variant	rs6978230
Chromosome Location	chr7:137529578-137529579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137521731..137523551-chr7:137529090..137530870,2	K562	blood:
2	chr7:137527969..137530649-chr7:137533553..137535061,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10230788	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10256707	1.00[CEU][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];0.81[EUR][1000 genomes]
rs10257218	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10260637	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1109272	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1871213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28634434	0.80[EUR][1000 genomes]
rs34309725	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3823554	0.81[EUR][1000 genomes]
rs6974718	0.90[EUR][1000 genomes]
rs7796821	1.00[CEU][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];0.81[EUR][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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Cognitive decline (age-related)	24468470	GWAS catalog

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137517800-137530400	Weak transcription	HSMMtube	muscle
2	chr7:137518800-137530400	Weak transcription	HSMM	muscle
3	chr7:137521800-137530800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:137522400-137529800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:137522400-137530200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:137525800-137530400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:137527200-137532600	Active TSS	Brain Anterior Caudate	brain
8	chr7:137527600-137529600	Enhancers	Fetal Brain Male	brain
9	chr7:137527600-137529800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:137527600-137530600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:137528400-137530400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:137528600-137530800	Flanking Active TSS	Fetal Brain Female	brain
13	chr7:137528600-137532800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:137528800-137530200	Active TSS	Brain Angular Gyrus	brain
15	chr7:137528800-137530600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr7:137528800-137530600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:137528800-137532800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr7:137529000-137529600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr7:137529000-137529800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:137529000-137530200	Active TSS	Brain Cingulate Gyrus	brain
21	chr7:137529200-137529600	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr7:137529200-137529800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr7:137529200-137529800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:137529200-137529800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:137529400-137529600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:137529400-137529600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
27	chr7:137529400-137529800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr7:137529400-137529800	Enhancers	Brain Substantia Nigra	brain
29	chr7:137529400-137530000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr7:137529400-137530000	Weak transcription	Osteobl	bone
31	chr7:137529400-137530200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr7:137529400-137530800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:137529400-137531200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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