Variant report

Variant	rs9844494
Chromosome Location	chr3:133096753-133096754
allele	C/T
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	SMC3	chr3:133094649-133096816	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr3:133096640-133096790	HCM	heart:	n/a	n/a
3	RAD21	chr3:133093971-133097201	SK-N-SH	brain:	n/a	chr3:133097180-133097193
4	CTCF	chr3:133095592-133097067	SK-N-SH	brain:	n/a	chr3:133096424-133096440
5	CTCF	chr3:133096680-133096830	BJ	skin:	n/a	n/a
6	CTCF	chr3:133096680-133096830	HMEC	breast:	n/a	n/a
7	CTCF	chr3:133096720-133096870	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:132759646..132760977-chr3:133095922..133096948,16	MCF-7	breast:
2	chr3:132449633..132450614-chr3:133096187..133096865,2	K562	blood:
3	chr3:132759827..132760745-chr3:133095936..133096883,3	MCF-7	breast:

Variant related genes	Relation type
TMEM108	TF binding region
ENSG00000144868	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9821742	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[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	nsv877503	chr3:133035774-133104631	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr3:133080800-133098600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:133083200-133099200	Weak transcription	Lung	lung
3	chr3:133093000-133102400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:133093800-133098200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:133094000-133099400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:133094000-133099800	Weak transcription	HSMMtube	muscle
7	chr3:133094000-133109000	Weak transcription	HSMM	muscle
8	chr3:133094200-133100000	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:133094400-133100000	Weak transcription	Brain Angular Gyrus	brain
10	chr3:133094400-133102800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:133094800-133102000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:133094800-133110400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:133095000-133099600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:133095200-133103200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:133095400-133098800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:133095800-133099200	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:133095800-133103200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:133096000-133098200	Weak transcription	Brain Germinal Matrix	brain
19	chr3:133096000-133107800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:133096200-133098400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:133096400-133097200	Weak transcription	Fetal Lung	lung
22	chr3:133096400-133097800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:133096400-133097800	Weak transcription	Fetal Brain Female	brain
24	chr3:133096400-133098800	Weak transcription	Fetal Brain Male	brain
25	chr3:133096400-133099800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr3:133096400-133103200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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