Variant report

Variant	rs11227491
Chromosome Location	chr11:66237178-66237179
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr11:66237085-66237356	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66235227..66237987-chr11:66260877..66263080,2	K562	blood:
2	chr11:66236911..66238826-chr11:66251147..66254050,2	MCF-7	breast:

Variant related genes	Relation type
PELI3	TF binding region
MRPL11	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11227533	1.00[CEU][hapmap]
rs17849480	1.00[AMR][1000 genomes]
rs17850564	1.00[AMR][1000 genomes]
rs55955243	1.00[AMR][1000 genomes]
rs56146874	1.00[AMR][1000 genomes]
rs56177555	1.00[AMR][1000 genomes]
rs56244360	1.00[AMR][1000 genomes]
rs56291132	1.00[AMR][1000 genomes]
rs56380786	1.00[AMR][1000 genomes]
rs56790408	1.00[AMR][1000 genomes]
rs57113976	1.00[AMR][1000 genomes]
rs57412357	1.00[AMR][1000 genomes]
rs58447882	1.00[AMR][1000 genomes]
rs58527779	1.00[AMR][1000 genomes]
rs58883837	1.00[AMR][1000 genomes]
rs59057733	1.00[AMR][1000 genomes]
rs59213528	1.00[AMR][1000 genomes]
rs59792175	1.00[AMR][1000 genomes]
rs60315012	1.00[AMR][1000 genomes]
rs61675228	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv897786	chr11:66203025-66244015	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66235200-66237200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:66235200-66238200	Weak transcription	Aorta	Aorta
3	chr11:66235200-66238200	Enhancers	Spleen	Spleen
4	chr11:66235200-66239800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:66235200-66245000	Weak transcription	HSMM	muscle
6	chr11:66235200-66246200	Weak transcription	Fetal Kidney	kidney
7	chr11:66235400-66238000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:66235400-66239800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:66235400-66239800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:66235400-66246400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:66235400-66246600	Weak transcription	Fetal Heart	heart
12	chr11:66235400-66246600	Weak transcription	Psoas Muscle	Psoas
13	chr11:66235400-66246600	Weak transcription	HSMMtube	muscle
14	chr11:66235600-66237800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:66235600-66238000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:66235600-66238800	Weak transcription	Gastric	stomach
17	chr11:66235600-66238800	Weak transcription	K562	blood
18	chr11:66235600-66240000	Weak transcription	Osteobl	bone
19	chr11:66235600-66241400	Weak transcription	HMEC	breast
20	chr11:66235600-66244200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:66235600-66246400	Weak transcription	A549	lung
22	chr11:66235600-66246400	Weak transcription	Hela-S3	cervix
23	chr11:66235800-66237200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:66235800-66237600	Weak transcription	Fetal Lung	lung
25	chr11:66235800-66237800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:66235800-66237800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:66235800-66238000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:66235800-66238400	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:66235800-66238600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:66235800-66238600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:66235800-66238600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr11:66235800-66238600	Weak transcription	NHLF	lung
33	chr11:66235800-66238800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:66235800-66239000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:66235800-66239000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:66235800-66239000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:66235800-66239400	Weak transcription	NHDF-Ad	bronchial
38	chr11:66235800-66239600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:66235800-66239600	Weak transcription	Esophagus	oesophagus
40	chr11:66235800-66239600	Weak transcription	Fetal Intestine Large	intestine
41	chr11:66235800-66239600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:66235800-66239800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:66235800-66239800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:66235800-66239800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:66235800-66239800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:66235800-66239800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:66235800-66239800	Weak transcription	Colonic Mucosa	Colon
48	chr11:66235800-66239800	Weak transcription	Left Ventricle	heart
49	chr11:66235800-66239800	Weak transcription	Lung	lung
50	chr11:66235800-66240000	Weak transcription	Liver	Liver

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