Variant report

Variant	rs752077
Chromosome Location	chr2:174136944-174136945
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	FOS	chr2:174136613-174136976	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr2:174136624-174136951	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr2:174136618-174136957	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr2:174136691-174136944	A549	lung:	n/a	n/a
5	FOS	chr2:174136612-174136970	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr2:174136622-174136961	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr2:174136503-174137080	HCT-116	colon:	n/a	n/a
8	EP300	chr2:174136669-174137115	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:174136720..174139073-chr2:174146711..174148385,2	MCF-7	breast:

Variant related genes	Relation type
MLK7-AS1	TF binding region
ENSG00000238133	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11685378	0.86[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11686011	0.84[ASW][hapmap]
rs11692098	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11695778	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12618933	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12620774	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13023958	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13031154	0.97[ASN][1000 genomes]
rs1372934	1.00[LWK][hapmap]
rs3769148	1.00[ASW][hapmap];0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66691946	0.90[AMR][1000 genomes];0.85[ASN][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr2:174126000-174138000	Weak transcription	Psoas Muscle	Psoas
2	chr2:174126400-174138800	Weak transcription	Right Ventricle	heart
3	chr2:174130000-174137800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:174131000-174137800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:174131200-174139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:174133000-174137600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:174133200-174137800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:174133600-174138800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:174136200-174137000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:174136200-174137000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:174136200-174138200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:174136400-174137000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:174136400-174137000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:174136400-174137000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:174136400-174137000	Enhancers	HMEC	breast
16	chr2:174136400-174137200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:174136400-174137200	Enhancers	NHEK	skin
18	chr2:174136400-174137400	Enhancers	Stomach Mucosa	stomach
19	chr2:174136400-174138200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:174136800-174137000	Enhancers	Small Intestine	intestine
21	chr2:174136800-174137000	Enhancers	A549	lung
22	chr2:174136800-174137200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:174136800-174137600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:174136800-174138400	Enhancers	Cortex derived primary cultured neurospheres	brain

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