Variant report

Variant	rs7121914
Chromosome Location	chr11:120092310-120092311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120091006..120093784-chr11:120097633..120101741,5	K562	blood:
2	chr11:120041303..120043768-chr11:120091508..120094206,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7114392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7932327	1.00[AFR][1000 genomes]
rs7934134	0.84[ASW][hapmap];0.84[YRI][hapmap]
rs7947180	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs873058	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120082800-120095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:120083800-120094000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:120084200-120093000	Genic enhancers	Fetal Muscle Leg	muscle
4	chr11:120084200-120102600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:120084400-120093000	Genic enhancers	Fetal Intestine Large	intestine
6	chr11:120084600-120093200	Genic enhancers	Fetal Intestine Small	intestine
7	chr11:120084600-120095400	Weak transcription	Fetal Kidney	kidney
8	chr11:120085000-120092800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:120085000-120093200	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr11:120085200-120092400	Enhancers	Ovary	ovary
11	chr11:120086000-120092800	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr11:120086400-120092600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr11:120086400-120097000	Weak transcription	NHEK	skin
14	chr11:120086600-120095800	Weak transcription	NH-A	brain
15	chr11:120087200-120093200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:120087600-120094000	Enhancers	Stomach Mucosa	stomach
17	chr11:120088200-120092600	Enhancers	Right Ventricle	heart
18	chr11:120088400-120092600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr11:120088400-120092800	Enhancers	Brain Anterior Caudate	brain
20	chr11:120088400-120092800	Enhancers	Brain Cingulate Gyrus	brain
21	chr11:120088400-120092800	Enhancers	Brain Substantia Nigra	brain
22	chr11:120088400-120092800	Enhancers	Colon Smooth Muscle	Colon
23	chr11:120088400-120092800	Enhancers	Gastric	stomach
24	chr11:120088400-120092800	Enhancers	Right Atrium	heart
25	chr11:120088400-120093000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:120088400-120093000	Enhancers	Esophagus	oesophagus
27	chr11:120088400-120094400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:120089400-120092800	Enhancers	Brain Hippocampus Middle	brain
29	chr11:120089800-120092400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:120089800-120095600	Weak transcription	Lung	lung
31	chr11:120089800-120099600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:120090200-120095800	Weak transcription	Fetal Heart	heart
33	chr11:120090400-120092800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr11:120090400-120093800	Weak transcription	Psoas Muscle	Psoas
35	chr11:120090400-120095400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:120090600-120092800	Genic enhancers	Rectal Mucosa Donor 31	rectum
37	chr11:120090600-120093600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:120090800-120092400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:120090800-120095400	Weak transcription	Fetal Lung	lung
40	chr11:120090800-120095600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:120090800-120099600	Weak transcription	NHDF-Ad	bronchial
42	chr11:120091000-120092400	Genic enhancers	HepG2	liver
43	chr11:120091000-120094600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:120091000-120095600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:120091000-120096600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:120091000-120097400	Weak transcription	NHLF	lung
47	chr11:120091000-120097600	Genic enhancers	Liver	Liver
48	chr11:120091000-120102800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:120091200-120092400	Enhancers	Small Intestine	intestine
50	chr11:120091200-120092800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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