Variant report

Variant	rs11212680
Chromosome Location	chr11:108369831-108369832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr11:108369748-108370361	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:108092115..108094604-chr11:108367755..108370100,3	K562	blood:
2	chr11:108366826..108370827-chr11:108463038..108466989,6	MCF-7	breast:
3	chr11:108367402..108370460-chr11:108461670..108466033,4	K562	blood:
4	chr11:108337740..108339717-chr11:108368118..108370036,2	MCF-7	breast:
5	chr11:108349924..108352916-chr11:108367439..108370058,3	K562	blood:
6	chr11:108351170..108356197-chr11:108366781..108370741,5	K562	blood:
7	chr11:108369586..108372372-chr11:108483049..108485816,2	K562	blood:
8	chr11:108332946..108340923-chr11:108359972..108371658,26	K562	blood:
9	chr11:108365650..108370333-chr11:108462736..108466617,7	K562	blood:
10	chr11:108333954..108342521-chr11:108361561..108373383,35	K562	blood:

No data

Variant related genes	Relation type
KDELC2	TF binding region
ENSG00000110723	Chromatin interaction
ENSG00000149311	Chromatin interaction
ENSG00000166323	Chromatin interaction
ENSG00000149308	Chromatin interaction
ENSG00000221607	Chromatin interaction
ENSG00000178202	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11212681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12146448	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366211	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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108367600-108370000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:108367800-108370200	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr11:108368200-108370000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:108368200-108370000	Active TSS	Adipose Nuclei	Adipose
5	chr11:108368200-108370000	Active TSS	Right Ventricle	heart
6	chr11:108368200-108370400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:108368400-108370200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:108368400-108370200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr11:108369400-108370400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:108369400-108370400	Flanking Active TSS	Dnd41	blood
11	chr11:108369400-108370800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:108369400-108371800	Weak transcription	Fetal Heart	heart
13	chr11:108369400-108371800	Weak transcription	HSMMtube	muscle
14	chr11:108369600-108370000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:108369600-108370000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:108369600-108370000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr11:108369600-108370000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:108369600-108370000	Enhancers	Fetal Stomach	stomach
19	chr11:108369600-108370000	Enhancers	Left Ventricle	heart
20	chr11:108369600-108370000	Enhancers	Pancreas	Pancrea
21	chr11:108369600-108370000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr11:108369600-108370000	Enhancers	Thymus	Thymus
23	chr11:108369600-108370000	Enhancers	Spleen	Spleen
24	chr11:108369600-108370000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr11:108369600-108370200	Enhancers	GM12878-XiMat	blood
26	chr11:108369600-108370200	Weak transcription	NHEK	skin
27	chr11:108369600-108370400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:108369600-108370400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:108369600-108370400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:108369600-108371000	Enhancers	Placenta	Placenta
31	chr11:108369600-108371400	Weak transcription	Gastric	stomach
32	chr11:108369600-108371400	Enhancers	K562	blood
33	chr11:108369600-108371600	Weak transcription	HSMM	muscle
34	chr11:108369600-108371800	Weak transcription	Osteobl	bone
35	chr11:108369600-108372000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:108369600-108372000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:108369600-108372000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:108369600-108372200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:108369600-108379800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:108369600-108380800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:108369600-108381000	Weak transcription	Liver	Liver
42	chr11:108369600-108382200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:108369600-108384000	Weak transcription	Fetal Kidney	kidney
44	chr11:108369800-108370000	Enhancers	Fetal Muscle Trunk	muscle
45	chr11:108369800-108370000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr11:108369800-108370200	Enhancers	Ovary	ovary
47	chr11:108369800-108370200	Enhancers	Stomach Smooth Muscle	stomach
48	chr11:108369800-108370600	Enhancers	Esophagus	oesophagus
49	chr11:108369800-108371200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:108369800-108371400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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