Variant report

Variant	rs2350385
Chromosome Location	chr6:73891177-73891178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:73121810..73122595-chr6:73890813..73891425,2	MCF-7	breast:
2	chr6:73844216..73844877-chr6:73890551..73891344,2	MCF-7	breast:
3	chr6:73890367..73891378-chr6:74036227..74036958,3	MCF-7	breast:
4	chr6:73891121..73892828-chr6:74034986..74037407,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226840	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1970547	0.95[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1970549	0.95[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2350386	0.81[AMR][1000 genomes]
rs2882404	0.95[CEU][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2882405	0.90[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3799280	0.95[CEU][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6907229	0.95[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6937240	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6937253	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7756501	0.95[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9343015	0.95[CEU][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9351980	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9446861	0.95[CEU][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1022151	chr6:73876795-73996828	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv538304	chr6:73876795-73996828	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73869000-73904200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:73884800-73903600	Weak transcription	Primary T cells from cord blood	blood
3	chr6:73887600-73903600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:73890000-73891200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:73890200-73891400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:73890400-73891200	Enhancers	Fetal Brain Female	brain
7	chr6:73890800-73891200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:73890800-73904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:73890800-73904200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:73890800-73904400	Weak transcription	Aorta	Aorta
11	chr6:73891000-73891200	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:73891000-73891200	Enhancers	Brain Cingulate Gyrus	brain
13	chr6:73891000-73891200	Enhancers	Colon Smooth Muscle	Colon
14	chr6:73891000-73891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:73891000-73891400	Enhancers	Brain Substantia Nigra	brain
16	chr6:73891000-73892000	Enhancers	GM12878-XiMat	blood
17	chr6:73891000-73892600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:73891000-73892800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:73891000-73897400	Weak transcription	Primary B cells from cord blood	blood
20	chr6:73891000-73900600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:73891000-73901000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:73891000-73903800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:73891000-73909600	Weak transcription	HSMMtube	muscle

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