Variant report

Variant	rs59550560
Chromosome Location	chr11:66544059-66544060
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	CTCF	chr11:66543980-66544062	GM13976	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66461871..66464814-chr11:66542647..66544516,2	K562	blood:
2	chr11:66509425..66511808-chr11:66542687..66544296,2	K562	blood:

Variant related genes	Relation type
FTLP6	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1127145	1.00[ASN][1000 genomes]
rs11828542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147932	1.00[ASN][1000 genomes]
rs2380756	0.89[AMR][1000 genomes]
rs2380757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2380758	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802743	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4397861	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500496	1.00[ASN][1000 genomes]
rs56803995	1.00[ASN][1000 genomes]
rs57240313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57410747	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57466874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58800112	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59431265	1.00[ASN][1000 genomes]
rs59538303	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59566349	1.00[ASN][1000 genomes]
rs59932755	1.00[ASN][1000 genomes]
rs60651024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61634527	1.00[ASN][1000 genomes]
rs7952232	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv427891	chr11:66456140-66606701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised 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	70 gene(s)	inside rSNPs	diseases
6	nsv516087	chr11:66516049-66579572	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66513200-66555000	Weak transcription	Pancreas	Pancrea
2	chr11:66513400-66547800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:66513400-66606800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:66526600-66549800	Weak transcription	Lung	lung
5	chr11:66527000-66574200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:66527000-66595600	Weak transcription	HSMM	muscle
7	chr11:66527400-66571600	Weak transcription	Primary T cells from cord blood	blood
8	chr11:66530000-66559000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:66530000-66571400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:66530000-66605400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:66530200-66549800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:66530200-66556000	Weak transcription	Gastric	stomach
13	chr11:66530200-66582400	Weak transcription	HUVEC	blood vessel
14	chr11:66530600-66551200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:66530600-66555800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:66530600-66575200	Weak transcription	Esophagus	oesophagus
17	chr11:66530600-66600000	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:66530800-66581800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:66531000-66572800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:66531200-66577800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:66531400-66555200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:66531400-66555800	Weak transcription	Fetal Intestine Small	intestine
23	chr11:66531400-66557000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:66531400-66578000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:66531600-66545200	Weak transcription	Fetal Thymus	thymus
26	chr11:66531800-66569400	Weak transcription	Brain Germinal Matrix	brain
27	chr11:66532000-66568400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:66532200-66555800	Weak transcription	Fetal Stomach	stomach
29	chr11:66532400-66555600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr11:66534200-66549600	Weak transcription	Fetal Brain Female	brain
31	chr11:66534200-66555200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:66534400-66555400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:66535600-66549600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:66535600-66555400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:66535600-66556200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:66536600-66555400	Weak transcription	A549	lung
37	chr11:66536600-66572000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:66536800-66556000	Weak transcription	NHEK	skin
39	chr11:66536800-66558200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:66538200-66575800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:66539800-66571400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:66540000-66556400	Weak transcription	Primary B cells from cord blood	blood
43	chr11:66540200-66556200	Weak transcription	Thymus	Thymus
44	chr11:66541200-66548800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:66543000-66549800	Weak transcription	Hela-S3	cervix
46	chr11:66544000-66609600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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