Variant report

Variant	rs12707629
Chromosome Location	chr7:83828694-83828695
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	STAT3	chr7:83828555-83828754	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr7:83828554-83828755	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SEMA3A	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12113887	1.00[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707622	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707630	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707631	0.80[EUR][1000 genomes]
rs13231596	0.80[EUR][1000 genomes]
rs13234176	0.80[EUR][1000 genomes]
rs13247197	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17242890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158565	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34657298	0.89[AFR][1000 genomes]
rs35486665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35806139	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35921556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71558714	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83825200-83830200	Weak transcription	Hela-S3	cervix
2	chr7:83825400-83836000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:83825800-83828800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:83825800-83829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:83825800-83829200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:83825800-83834200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:83825800-83836400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:83825800-83841200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:83826000-83829000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:83826000-83829000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:83826000-83829600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:83826000-83830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:83826000-83830200	Weak transcription	NH-A	brain
14	chr7:83826000-83833800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:83826000-83834200	Weak transcription	Fetal Brain Male	brain
16	chr7:83826200-83828800	Weak transcription	A549	lung
17	chr7:83826200-83829400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:83826200-83829800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:83826200-83830400	Weak transcription	NHDF-Ad	bronchial
20	chr7:83826200-83830400	Weak transcription	NHLF	lung
21	chr7:83826400-83833600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:83828000-83829600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:83828000-83829800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:83828000-83829800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:83828000-83830200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:83828000-83831600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:83828000-83832200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:83828000-83832600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:83828400-83830200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:83828400-83832400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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