Variant report

Variant	rs7130028
Chromosome Location	chr11:46578523-46578524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46578026..46579724-chr11:46581750..46584092,2	K562	blood:
2	chr11:46570718..46573249-chr11:46575495..46578902,3	MCF-7	breast:
3	chr11:46577534..46580412-chr11:46638726..46640640,2	MCF-7	breast:
4	chr11:46574208..46579341-chr11:46636969..46640425,5	MCF-7	breast:
5	chr11:46577407..46579812-chr11:46585302..46587977,2	K562	blood:

Variant related genes	Relation type
ENSG00000175224	Chromatin interaction
ENSG00000180423	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10838601	0.85[EUR][1000 genomes]
rs11038910	0.83[AFR][1000 genomes]
rs68002803	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7484125	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7925678	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46565000-46579200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:46566000-46579200	Weak transcription	Fetal Heart	heart
3	chr11:46567400-46579000	Weak transcription	Pancreas	Pancrea
4	chr11:46567400-46579200	Weak transcription	Gastric	stomach
5	chr11:46568800-46579000	Weak transcription	Lung	lung
6	chr11:46568800-46582200	Weak transcription	Fetal Stomach	stomach
7	chr11:46568800-46611000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:46568800-46612600	Weak transcription	Brain Germinal Matrix	brain
9	chr11:46569000-46579000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:46569000-46579200	Weak transcription	Esophagus	oesophagus
11	chr11:46569000-46579200	Weak transcription	Spleen	Spleen
12	chr11:46569600-46581400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:46569800-46581400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:46570000-46581800	Weak transcription	Thymus	Thymus
15	chr11:46570000-46582000	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:46570000-46582600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:46574800-46579600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:46574800-46580000	Enhancers	K562	blood
19	chr11:46574800-46581800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:46575000-46581400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:46575400-46579200	Weak transcription	Left Ventricle	heart
22	chr11:46575400-46581800	Weak transcription	Ovary	ovary
23	chr11:46575600-46579000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr11:46575600-46579000	Weak transcription	Fetal Thymus	thymus
25	chr11:46575600-46579200	Weak transcription	Right Ventricle	heart
26	chr11:46576600-46579000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:46576600-46579000	Weak transcription	Right Atrium	heart
28	chr11:46576600-46579200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:46576600-46579400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:46576600-46581600	Weak transcription	Fetal Lung	lung
31	chr11:46576600-46581800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:46576800-46579400	Enhancers	Hela-S3	cervix
33	chr11:46576800-46579400	Weak transcription	NHLF	lung
34	chr11:46576800-46581200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:46576800-46581600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr11:46576800-46582400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:46577000-46578800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:46577000-46579000	Enhancers	A549	lung
39	chr11:46577000-46579000	Weak transcription	HMEC	breast
40	chr11:46577000-46579000	Weak transcription	NH-A	brain
41	chr11:46577000-46579200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:46577000-46579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:46577000-46579400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:46577000-46581000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:46577000-46581200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:46577000-46581600	Weak transcription	Primary B cells from cord blood	blood
47	chr11:46577000-46581600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:46577000-46581600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr11:46577000-46581800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:46577000-46582000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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