Variant report

Variant	rs4945015
Chromosome Location	chr11:75266967-75266968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75254633..75256434-chr11:75264986..75267807,2	K562	blood:
2	chr11:75109385..75112508-chr11:75266595..75269626,3	K562	blood:
3	chr11:75258371..75261326-chr11:75265585..75267685,5	MCF-7	breast:
4	chr11:75153583..75155202-chr11:75265836..75267387,2	K562	blood:

Variant related genes	Relation type
ENSG00000158555	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10899093	0.88[ASN][1000 genomes]
rs10899094	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1612604	0.88[ASN][1000 genomes]
rs1783553	0.87[ASN][1000 genomes]
rs55669825	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs598186	1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs602516	0.84[ASN][1000 genomes]
rs617639	1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs659453	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs663660	0.96[ASN][1000 genomes]
rs680988	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs687096	0.96[ASN][1000 genomes]
rs688487	0.81[ASN][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75259200-75268000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:75263800-75268800	Weak transcription	Fetal Brain Female	brain
3	chr11:75263800-75272600	Enhancers	Fetal Muscle Trunk	muscle
4	chr11:75263800-75272600	Enhancers	Fetal Muscle Leg	muscle
5	chr11:75265200-75268600	Weak transcription	Aorta	Aorta
6	chr11:75265400-75268600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:75265600-75268400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:75265600-75270000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:75265800-75268400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:75266000-75268400	Weak transcription	HMEC	breast
11	chr11:75266000-75268600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:75266000-75268600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:75266000-75268600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:75266000-75268800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:75266000-75269600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:75266000-75270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:75266200-75267000	Enhancers	Fetal Heart	heart
18	chr11:75266200-75267200	Enhancers	Ovary	ovary
19	chr11:75266200-75268400	Weak transcription	Fetal Brain Male	brain
20	chr11:75266200-75268600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:75266200-75268600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:75266200-75268600	Weak transcription	HUVEC	blood vessel
23	chr11:75266200-75268800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:75266200-75269000	Enhancers	Adipose Nuclei	Adipose
25	chr11:75266200-75269600	Weak transcription	Fetal Kidney	kidney
26	chr11:75266200-75272800	Enhancers	Fetal Stomach	stomach
27	chr11:75266400-75267400	Enhancers	Stomach Smooth Muscle	stomach
28	chr11:75266400-75268000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:75266400-75268000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:75266400-75268000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:75266400-75268200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:75266400-75268200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:75266400-75268200	Weak transcription	Lung	lung
34	chr11:75266400-75268200	Weak transcription	Osteobl	bone
35	chr11:75266400-75268400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:75266400-75268600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:75266400-75268800	Weak transcription	Brain Germinal Matrix	brain
38	chr11:75266400-75268800	Weak transcription	Spleen	Spleen
39	chr11:75266400-75269000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:75266400-75269000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:75266400-75269000	Weak transcription	Fetal Intestine Small	intestine
42	chr11:75266400-75269600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:75266400-75269800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:75266400-75269800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:75266600-75267200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:75266600-75267800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:75266600-75268000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:75266600-75268000	Weak transcription	Placenta	Placenta
49	chr11:75266600-75268000	Weak transcription	Fetal Thymus	thymus
50	chr11:75266600-75268000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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