Variant report

Variant	rs636848
Chromosome Location	chr11:85782667-85782668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85775018..85777414-chr11:85781077..85783520,2	K562	blood:
2	chr11:85781558..85783206-chr11:85914108..85916095,2	K562	blood:
3	chr11:85780488..85782711-chr11:85954373..85957163,3	MCF-7	breast:
4	chr11:85779554..85782905-chr11:85860304..85865248,6	K562	blood:
5	chr11:85779081..85782313-chr11:85782461..85788148,6	MCF-7	breast:
6	chr11:85781335..85783315-chr11:85791382..85794341,2	K562	blood:

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction
ENSG00000200877	Chromatin interaction
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1214410	0.81[EUR][1000 genomes]
rs1941375	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[ASN][1000 genomes]
rs2509606	0.88[ASN][1000 genomes]
rs3016329	0.81[EUR][1000 genomes]
rs490507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs510566	0.86[EUR][1000 genomes]
rs545213	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs547807	0.87[EUR][1000 genomes]
rs583463	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588992	0.91[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap]
rs590055	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs615887	0.92[CHB][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap]
rs61907308	0.88[ASN][1000 genomes]
rs621942	0.95[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs622110	0.81[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap]
rs622876	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628161	0.84[EUR][1000 genomes]
rs637193	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs638509	0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs655726	0.84[EUR][1000 genomes]
rs6592272	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs664596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs664629	0.88[YRI][hapmap]
rs669336	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs681041	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs682058	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs693458	0.91[ASN][1000 genomes]
rs787928	0.91[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	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85780800-85784800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:85781000-85783400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:85781000-85784000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:85781200-85783400	Enhancers	NHEK	skin
5	chr11:85781200-85783800	Enhancers	NHDF-Ad	bronchial
6	chr11:85781200-85784000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:85781400-85783200	Enhancers	Hela-S3	cervix
8	chr11:85781400-85783600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:85781400-85783800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:85781400-85796000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:85781600-85784400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:85781800-85782800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:85781800-85782800	Weak transcription	Fetal Heart	heart
14	chr11:85781800-85783000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:85781800-85783000	Weak transcription	Psoas Muscle	Psoas
16	chr11:85781800-85783000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:85781800-85783200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:85781800-85785600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:85782000-85783000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:85782000-85783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:85782000-85783000	Weak transcription	HMEC	breast
22	chr11:85782000-85783000	Weak transcription	Osteobl	bone
23	chr11:85782000-85783200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:85782000-85783200	Weak transcription	NH-A	brain
25	chr11:85782000-85783800	Enhancers	K562	blood
26	chr11:85782000-85783800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr11:85782000-85784800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:85782200-85783200	Weak transcription	NHLF	lung
29	chr11:85782400-85783000	Weak transcription	HSMM	muscle
30	chr11:85782400-85783200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:85782400-85785200	Weak transcription	Placenta	Placenta

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