Variant report

Variant	rs11235699
Chromosome Location	chr11:72970563-72970564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72970009..72972041-chr11:72975235..72977054,2	MCF-7	breast:
2	chr11:72968010..72971100-chr11:72972272..72977350,4	MCF-7	breast:
3	chr11:72969464..72972035-chr11:72974532..72976271,2	K562	blood:
4	chr11:72953671..72955860-chr11:72968822..72970580,2	K562	blood:
5	chr11:72968142..72972004-chr11:72979481..72982441,3	MCF-7	breast:
6	chr11:72969879..72972349-chr11:72976555..72979179,2	K562	blood:

Variant related genes	Relation type
ENSG00000171631	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10898913	1.00[JPT][hapmap]
rs10898914	1.00[JPT][hapmap]
rs10898915	1.00[JPT][hapmap]
rs11235692	0.81[EUR][1000 genomes]
rs11235700	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235703	1.00[JPT][hapmap]
rs11235706	1.00[JPT][hapmap]
rs11235707	1.00[JPT][hapmap]
rs11235710	1.00[JPT][hapmap]
rs11235711	1.00[JPT][hapmap]
rs11235712	1.00[JPT][hapmap]
rs12276627	1.00[JPT][hapmap]
rs12363628	1.00[JPT][hapmap]
rs12787775	1.00[JPT][hapmap]
rs12790447	1.00[JPT][hapmap]
rs12790863	1.00[JPT][hapmap]
rs12801084	1.00[JPT][hapmap]
rs12808111	1.00[JPT][hapmap]
rs55825221	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56317976	0.84[EUR][1000 genomes]
rs59862327	0.82[EUR][1000 genomes]
rs6592517	1.00[JPT][hapmap]
rs7103650	1.00[JPT][hapmap]
rs7106903	1.00[JPT][hapmap]
rs7127013	1.00[JPT][hapmap]
rs7127705	1.00[JPT][hapmap]
rs7127940	1.00[JPT][hapmap]
rs7925649	1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7942649	1.00[JPT][hapmap]
rs9988805	1.00[CHB][hapmap];1.00[JPT][hapmap];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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11235699	PAAF1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72960800-72975400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:72966800-72971400	Enhancers	Placenta	Placenta
3	chr11:72967000-72970800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:72967800-72971400	Enhancers	Spleen	Spleen
5	chr11:72968000-72971400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:72968800-72971000	Weak transcription	Fetal Intestine Small	intestine
7	chr11:72969400-72974200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:72969600-72974400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:72969600-72975400	Weak transcription	Psoas Muscle	Psoas
10	chr11:72969600-72975400	Weak transcription	HMEC	breast
11	chr11:72969800-72970800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:72969800-72971200	Weak transcription	Left Ventricle	heart
13	chr11:72969800-72973800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:72969800-72974000	Weak transcription	Lung	lung
15	chr11:72969800-72974200	Weak transcription	NH-A	brain
16	chr11:72969800-72975400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:72970000-72973800	Weak transcription	A549	lung
18	chr11:72970000-72974200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:72970000-72975400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:72970000-72976000	Weak transcription	HSMMtube	muscle
21	chr11:72970200-72972400	Weak transcription	NHLF	lung
22	chr11:72970200-72973200	Weak transcription	Osteobl	bone
23	chr11:72970200-72973400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:72970200-72973800	Weak transcription	NHDF-Ad	bronchial

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