Variant report

Variant	rs11227676
Chromosome Location	chr11:66840299-66840300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66790576..66792411-chr11:66837784..66840910,3	MCF-7	breast:
2	chr11:66827343..66828491-chr11:66838896..66840409,4	MCF-7	breast:
3	chr11:66741626..66743382-chr11:66838851..66841557,2	MCF-7	breast:
4	chr11:66821354..66822614-chr11:66839200..66840389,4	MCF-7	breast:
5	chr11:66836812..66842156-chr11:66842651..66845856,9	MCF-7	breast:
6	chr11:66834695..66837581-chr11:66838108..66840654,2	K562	blood:

Variant related genes	Relation type
ENSG00000173237	Chromatin interaction
ENSG00000173227	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11227678	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58876856	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60203761	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
3	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' 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	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11227676	RHOD	cis	lung	GTEx
rs11227676	RHOD	cis	Adipose Subcutaneous	GTEx
rs11227676	RHOD	cis	Nerve Tibial	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66825200-66841400	Weak transcription	Aorta	Aorta
2	chr11:66825200-66849200	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:66825400-66849400	Weak transcription	Ovary	ovary
4	chr11:66827600-66841800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:66828000-66845600	Weak transcription	Osteobl	bone
6	chr11:66831400-66844600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:66832000-66841000	Strong transcription	NHEK	skin
8	chr11:66833000-66841000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:66833800-66841000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:66834800-66843400	Weak transcription	Hela-S3	cervix
11	chr11:66836600-66842200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:66837600-66840400	Strong transcription	HMEC	breast
13	chr11:66837600-66841000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:66839200-66840400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:66839200-66841200	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr11:66839200-66845000	Weak transcription	Gastric	stomach
17	chr11:66839400-66841400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:66839400-66841600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:66839400-66841600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:66839400-66842600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:66839400-66843400	Weak transcription	Fetal Intestine Large	intestine
22	chr11:66839400-66843600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:66839400-66844600	Weak transcription	Stomach Mucosa	stomach
24	chr11:66839400-66844800	Weak transcription	A549	lung
25	chr11:66839400-66845200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:66839400-66845800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:66839400-66849400	Weak transcription	Lung	lung
28	chr11:66839400-66849400	Weak transcription	Right Atrium	heart
29	chr11:66839400-66849400	Weak transcription	Right Ventricle	heart
30	chr11:66839600-66842200	Strong transcription	Liver	Liver
31	chr11:66839600-66842200	Strong transcription	Fetal Intestine Small	intestine
32	chr11:66839600-66843200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:66839600-66843200	Weak transcription	HepG2	liver
34	chr11:66839600-66843600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:66839600-66844600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:66839800-66840400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:66839800-66844000	Strong transcription	Placenta	Placenta
38	chr11:66840000-66841200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr11:66840000-66841400	Weak transcription	Fetal Muscle Leg	muscle
40	chr11:66840000-66841600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:66840000-66841800	Weak transcription	K562	blood
42	chr11:66840200-66842400	Enhancers	GM12878-XiMat	blood
43	chr11:66840200-66843400	Weak transcription	Pancreas	Pancrea
44	chr11:66840200-66843600	Weak transcription	Esophagus	oesophagus
45	chr11:66840200-66843600	Weak transcription	Fetal Stomach	stomach
46	chr11:66840200-66844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:66840200-66845800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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