Variant report

Variant	rs339068
Chromosome Location	chr7:128367265-128367266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128353684..128356694-chr7:128364624..128368743,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135248	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs339064	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs339066	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs731770	0.91[CEU][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128349400-128378600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:128349800-128378200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:128349800-128378400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:128361600-128378600	Weak transcription	Right Atrium	heart
5	chr7:128365800-128367400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:128365800-128367400	Enhancers	Fetal Stomach	stomach
7	chr7:128365800-128367600	Enhancers	Fetal Muscle Leg	muscle
8	chr7:128366200-128367600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:128366200-128367600	Enhancers	Fetal Brain Female	brain
10	chr7:128366200-128374400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:128366800-128369200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:128366800-128369400	Enhancers	HMEC	breast
13	chr7:128366800-128369600	Enhancers	NHEK	skin
14	chr7:128367000-128367400	Enhancers	Fetal Brain Male	brain
15	chr7:128367000-128367600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:128367000-128369000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:128367000-128370200	Enhancers	HSMM	muscle
18	chr7:128367200-128367400	Enhancers	Spleen	Spleen
19	chr7:128367200-128367600	Enhancers	Fetal Lung	lung
20	chr7:128367200-128367800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:128367200-128367800	Enhancers	HSMMtube	muscle
22	chr7:128367200-128369200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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