Variant report

Variant	rs7305302
Chromosome Location	chr12:117540384-117540385
allele	A/G
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	NANOG	chr12:117540165-117540512	H1-hESC	embryonic stem cell:	n/a	chr12:117540278-117540287
2	MAX	chr12:117540214-117540638	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117537725..117540420-chr12:117546898..117548910,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXW8-1	chr12:117539701-117540765	NONHSAT030981
2	lnc-FBXW8-1	chr12:117539701-117540765	NONHSAT030982

Variant related genes	Relation type
TESC	TF binding region

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

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

rs_ID	r²[population]
rs12304807	1.00[EUR][1000 genomes]
rs12310638	1.00[EUR][1000 genomes]
rs61044549	1.00[EUR][1000 genomes]
rs71444609	1.00[EUR][1000 genomes]
rs73408540	1.00[EUR][1000 genomes]
rs7967445	1.00[EUR][1000 genomes]
rs7969053	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117537600-117540600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr12:117537600-117556400	Weak transcription	Right Atrium	heart
3	chr12:117537800-117540400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:117537800-117543200	Weak transcription	Dnd41	blood
5	chr12:117538200-117540400	Enhancers	Fetal Thymus	thymus
6	chr12:117538800-117540800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:117538800-117540800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr12:117538800-117549200	Weak transcription	Pancreas	Pancrea
9	chr12:117539400-117540400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:117539400-117540800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:117539600-117540400	Enhancers	HepG2	liver
12	chr12:117539600-117540600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:117539600-117540800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:117539800-117540800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:117539800-117540800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:117539800-117540800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:117540000-117540400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr12:117540000-117540600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:117540000-117540800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr12:117540000-117548200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:117540200-117540400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:117540200-117540400	Enhancers	Brain Hippocampus Middle	brain
23	chr12:117540200-117540400	Bivalent Enhancer	Esophagus	oesophagus
24	chr12:117540200-117540400	Bivalent Enhancer	HSMMtube	muscle

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