Variant report

Variant	rs7117944
Chromosome Location	chr11:46497428-46497429
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46468408..46470921-chr11:46496767..46499525,2	K562	blood:
2	chr11:46495928..46497602-chr11:46509674..46511734,2	K562	blood:
3	chr11:46495938..46498371-chr11:46504145..46507143,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2891617	1.00[AMR][1000 genomes]
rs55762640	1.00[AMR][1000 genomes]
rs56692163	1.00[AMR][1000 genomes]
rs56851661	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58031860	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59379166	1.00[AMR][1000 genomes]
rs61183349	1.00[AMR][1000 genomes]
rs7110413	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7342145	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs736633	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7932067	1.00[AMR][1000 genomes]
rs7938644	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7946071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7946801	0.82[ASW][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46456800-46515000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:46464200-46513000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:46465000-46513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:46465200-46504400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr11:46465600-46511200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:46470800-46497600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:46478400-46504800	Weak transcription	Fetal Kidney	kidney
8	chr11:46479000-46498600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:46479000-46513400	Weak transcription	Spleen	Spleen
10	chr11:46479000-46525600	Weak transcription	Lung	lung
11	chr11:46485600-46511200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:46486000-46511400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:46486000-46511400	Weak transcription	HSMMtube	muscle
14	chr11:46486200-46513200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:46486200-46525800	Weak transcription	Fetal Brain Female	brain
16	chr11:46486400-46500400	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:46486400-46500600	Weak transcription	Left Ventricle	heart
18	chr11:46486400-46507400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:46486400-46513600	Weak transcription	Esophagus	oesophagus
20	chr11:46486600-46518800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:46487000-46497600	Weak transcription	Small Intestine	intestine
22	chr11:46487000-46511400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:46487400-46503800	Weak transcription	Fetal Lung	lung
24	chr11:46487400-46514200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:46487600-46507200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:46487600-46507400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:46487600-46513600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:46487600-46514200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:46487600-46515000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:46487800-46508000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:46488000-46511400	Weak transcription	Gastric	stomach
32	chr11:46488200-46501800	Weak transcription	Brain Substantia Nigra	brain
33	chr11:46488200-46513400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:46488200-46515000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:46489600-46511000	Weak transcription	Colon Smooth Muscle	Colon
36	chr11:46489600-46512000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:46489800-46503800	Weak transcription	Thymus	Thymus
38	chr11:46490000-46500800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr11:46490000-46501200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:46490000-46503800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:46490000-46503800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr11:46490000-46507000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:46490000-46511200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:46490000-46512000	Weak transcription	Adipose Nuclei	Adipose
45	chr11:46490000-46512400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:46490200-46497600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:46490200-46503600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr11:46490200-46511200	Weak transcription	Placenta	Placenta
49	chr11:46490200-46525800	Weak transcription	Aorta	Aorta
50	chr11:46490400-46511200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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