Variant report

Variant	rs11039214
Chromosome Location	chr11:47397352-47397353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47397121..47400538-chr11:47420513..47424481,4	K562	blood:
2	chr11:47395359..47404298-chr11:47408556..47417905,22	K562	blood:
3	chr11:47397140..47399846-chr11:47404698..47406803,2	MCF-7	breast:
4	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:
5	chr11:47395793..47399291-chr11:47428329..47431622,5	MCF-7	breast:
6	chr11:47199421..47202376-chr11:47396791..47399041,2	K562	blood:
7	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
8	chr11:47392669..47398633-chr11:47427643..47432695,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165915	Chromatin interaction
ENSG00000264583	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000165912	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11039104	1.00[AFR][1000 genomes]
rs11039128	1.00[AFR][1000 genomes]
rs11039169	1.00[AFR][1000 genomes]
rs11039179	1.00[AFR][1000 genomes]
rs11039180	1.00[AFR][1000 genomes]
rs11039252	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12226522	1.00[AFR][1000 genomes]
rs12226869	1.00[AFR][1000 genomes]
rs4647752	1.00[AFR][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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47377200-47397800	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:47377600-47397600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:47377600-47397800	Weak transcription	Brain Substantia Nigra	brain
4	chr11:47380000-47397800	Weak transcription	Esophagus	oesophagus
5	chr11:47380200-47397800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:47390200-47398400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:47393200-47399600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:47394200-47397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:47395200-47397400	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr11:47395200-47398000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
11	chr11:47395200-47398000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
12	chr11:47395200-47410000	Weak transcription	Gastric	stomach
13	chr11:47395400-47397800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:47395400-47397800	Enhancers	K562	blood
15	chr11:47395400-47398000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
16	chr11:47395600-47397600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:47395600-47397800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
18	chr11:47395600-47397800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:47395600-47398400	Weak transcription	Fetal Stomach	stomach
20	chr11:47395600-47399200	Weak transcription	Brain Angular Gyrus	brain
21	chr11:47395800-47397600	Weak transcription	Liver	Liver
22	chr11:47395800-47397600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:47395800-47397800	Weak transcription	Fetal Intestine Small	intestine
24	chr11:47395800-47398600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:47396000-47397400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:47396000-47398400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:47396000-47398600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:47396200-47397800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:47396200-47398800	Weak transcription	Thymus	Thymus
30	chr11:47396200-47399200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:47396200-47399600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr11:47396400-47397400	Enhancers	GM12878-XiMat	blood
33	chr11:47396400-47397600	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:47396400-47397800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:47396400-47397800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:47396400-47398000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:47396400-47398000	Weak transcription	A549	lung
38	chr11:47396400-47398200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:47396400-47398200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:47396400-47398400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:47396400-47398600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:47396400-47400000	Active TSS	Brain Hippocampus Middle	brain
43	chr11:47396600-47397600	Weak transcription	Hela-S3	cervix
44	chr11:47396600-47397800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:47396600-47397800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells	blood
46	chr11:47396600-47398200	Weak transcription	NHEK	skin
47	chr11:47396600-47400400	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:47396800-47397400	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:47396800-47398200	Weak transcription	HMEC	breast
50	chr11:47396800-47400400	Active TSS	Duodenum Smooth Muscle	Duodenum

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