Variant report

Variant	rs7340446
Chromosome Location	chr2:134265851-134265852
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134253868..134259578-chr2:134259579..134266138,12	MCF-7	breast:
2	chr2:133428056..133430073-chr2:134262695..134265949,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150551	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10165238	1.00[CEU][hapmap]
rs1017366	0.82[CEU][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10206425	0.82[CEU][hapmap]
rs11891880	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs11903204	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13399787	0.82[CEU][hapmap]
rs13408209	0.82[CEU][hapmap]
rs16825505	0.82[CEU][hapmap]
rs16826050	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16826052	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17815418	0.82[CEU][hapmap]
rs60316439	1.00[EUR][1000 genomes]
rs61578634	1.00[EUR][1000 genomes]
rs6720995	0.82[CEU][hapmap];1.00[EUR][1000 genomes]
rs6730679	0.82[CEU][hapmap];1.00[EUR][1000 genomes]
rs6732077	1.00[EUR][1000 genomes]
rs72990470	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72990471	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72990476	1.00[EUR][1000 genomes]
rs72990483	1.00[EUR][1000 genomes]
rs72990486	1.00[EUR][1000 genomes]
rs72990490	1.00[EUR][1000 genomes]
rs72990493	1.00[EUR][1000 genomes]
rs72990494	1.00[EUR][1000 genomes]
rs72992306	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72992325	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72992334	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72992339	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72992347	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72992351	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72992377	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73003136	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003138	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73003141	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73003144	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73003146	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73003147	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7340510	0.82[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9917399	0.82[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2830192	chr2:134259612-134311713	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	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	chr2:134262000-134267600	Enhancers	Brain Germinal Matrix	brain
2	chr2:134262600-134267000	Weak transcription	Placenta	Placenta
3	chr2:134262600-134267400	Weak transcription	Esophagus	oesophagus
4	chr2:134263200-134268600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:134263800-134266000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:134264000-134266200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:134264200-134268200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:134264400-134267600	Enhancers	Brain Substantia Nigra	brain
9	chr2:134264600-134266800	Enhancers	Fetal Brain Female	brain
10	chr2:134264600-134267000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:134264800-134267600	Enhancers	Brain Hippocampus Middle	brain
12	chr2:134265000-134266800	Enhancers	Brain Anterior Caudate	brain
13	chr2:134265000-134267000	Weak transcription	HMEC	breast
14	chr2:134265000-134267000	Weak transcription	NHEK	skin
15	chr2:134265000-134267200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:134265200-134267200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:134265200-134267400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:134265600-134267400	Enhancers	Fetal Brain Male	brain
19	chr2:134265600-134267800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:134265800-134266200	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:134265800-134266800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:134265800-134266800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:134265800-134266800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:134265800-134266800	Enhancers	Brain Angular Gyrus	brain

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