Variant report

Variant	rs805288
Chromosome Location	chr6:31678028-31678029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:31676949..31679536-chr6:31784835..31786344,2	MCF-7	breast:
2	chr6:31677895..31680160-chr6:31702614..31704121,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4569	0.82[EUR][1000 genomes]
rs7029	0.82[EUR][1000 genomes]
rs707917	0.83[EUR][1000 genomes]
rs707920	0.82[EUR][1000 genomes]
rs7992	0.82[EUR][1000 genomes]
rs805271	0.82[EUR][1000 genomes]
rs805274	0.83[EUR][1000 genomes]
rs805277	0.82[EUR][1000 genomes]
rs805281	0.83[EUR][1000 genomes]
rs805282	0.82[EUR][1000 genomes]
rs805287	0.91[EUR][1000 genomes]
rs805290	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
10	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
11	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
12	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
13	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
14	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs805288	AIF1	Cis_1M	lymphoblastoid	RTeQTL
rs805288	LY6G5C	cis	Cerebellum	GTEx
rs805288	BAT4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31671600-31681600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:31671800-31678600	Weak transcription	Fetal Brain Female	brain
3	chr6:31671800-31678600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:31671800-31695800	Weak transcription	Right Atrium	heart
5	chr6:31672000-31679000	Weak transcription	Esophagus	oesophagus
6	chr6:31672000-31682800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:31672000-31685400	Weak transcription	Gastric	stomach
8	chr6:31672200-31678400	Weak transcription	Thymus	Thymus
9	chr6:31677400-31678200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:31677400-31678400	Bivalent Enhancer	HepG2	liver
11	chr6:31677600-31678600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:31677600-31679000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:31677600-31679000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:31677600-31682400	Enhancers	K562	blood
15	chr6:31677600-31683600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:31677800-31678200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:31677800-31679400	Enhancers	Lung	lung
18	chr6:31677800-31680000	Enhancers	Primary hematopoietic stem cells	blood
19	chr6:31677800-31680200	Enhancers	Spleen	Spleen
20	chr6:31677800-31680600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:31678000-31678200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:31678000-31678400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:31678000-31678600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:31678000-31678600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr6:31678000-31679000	Enhancers	NHEK	skin

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