Variant report

Variant	rs9385992
Chromosome Location	chr6:142633627-142633628
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	chr1:115052089..115054767-chr6:142632854..142634848,2	MCF-7	breast:
2	chr6:142630584..142632218-chr6:142633613..142635386,2	K562	blood:

Variant related genes	Relation type
ENSG00000197323	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs9321863	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9376683	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9376684	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9376685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9385991	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9389982	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9399398	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9399399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9399400	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9403377	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9403378	1.00[CEU][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][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	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830825	chr6:142585242-142752575	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1029666	chr6:142594099-142643084	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr6:142624800-142634000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:142624800-142651800	Weak transcription	HSMM	muscle
3	chr6:142625600-142635400	Weak transcription	Placenta	Placenta
4	chr6:142626000-142634200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:142626000-142650600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:142626600-142639800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:142627000-142634800	Enhancers	Liver	Liver
8	chr6:142628800-142634600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:142629400-142637000	Genic enhancers	HepG2	liver
10	chr6:142631000-142634400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:142632200-142638000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:142632400-142634800	Genic enhancers	HUVEC	blood vessel
13	chr6:142632400-142644200	Weak transcription	HMEC	breast
14	chr6:142632600-142634200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:142632600-142634200	Enhancers	NHLF	lung
16	chr6:142632600-142635200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:142632600-142638200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:142633200-142634200	Weak transcription	Stomach Mucosa	stomach
19	chr6:142633200-142651000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:142633400-142633800	Weak transcription	NHEK	skin
21	chr6:142633400-142634400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:142633400-142634600	Enhancers	Fetal Lung	lung
23	chr6:142633600-142633800	Genic enhancers	A549	lung
24	chr6:142633600-142634800	Enhancers	Stomach Smooth Muscle	stomach

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