Variant report

Variant	rs7126783
Chromosome Location	chr11:100573465-100573466
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:100568090..100569929-chr11:100572714..100575378,2	K562	blood:
2	chr11:100572186..100576891-chr11:100577212..100582254,4	K562	blood:
3	chr11:100567119..100569590-chr11:100572714..100575535,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11224386	1.00[AMR][1000 genomes]
rs11224394	1.00[AMR][1000 genomes]
rs11224398	0.86[AFR][1000 genomes]
rs12285737	1.00[AMR][1000 genomes]
rs12288213	1.00[AMR][1000 genomes]
rs57756191	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7114498	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7115557	1.00[AMR][1000 genomes]
rs73573318	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73573332	0.86[AFR][1000 genomes]
rs7927982	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7933066	1.00[AMR][1000 genomes]
rs7939039	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7942169	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv556122	chr11:99893282-100585889	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1039852	chr11:99901695-100610533	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv541152	chr11:99901695-100610533	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1043022	chr11:100387466-100610533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv832246	chr11:100426725-100606957	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv898327	chr11:100569021-100631075	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100559800-100574600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:100559800-100580000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:100559800-100580000	Weak transcription	HSMM	muscle
4	chr11:100560200-100573800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:100560200-100576400	Weak transcription	Primary B cells from cord blood	blood
6	chr11:100560200-100580000	Weak transcription	NH-A	brain
7	chr11:100560200-100580600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:100560800-100574400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:100560800-100574600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:100560800-100578400	Weak transcription	Pancreas	Pancrea
11	chr11:100560800-100580200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:100561000-100574600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:100561000-100574800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:100561000-100578400	Weak transcription	Ovary	ovary
15	chr11:100561000-100590200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:100561000-100590600	Weak transcription	Lung	lung
17	chr11:100563400-100574600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:100563600-100575000	Weak transcription	HMEC	breast
19	chr11:100563600-100578400	Weak transcription	Gastric	stomach
20	chr11:100563600-100579800	Weak transcription	Liver	Liver
21	chr11:100563800-100574200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:100563800-100579800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:100563800-100585800	Weak transcription	Adipose Nuclei	Adipose
24	chr11:100564000-100583200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:100564200-100575000	Weak transcription	Fetal Heart	heart
26	chr11:100564400-100586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:100565400-100578400	Weak transcription	Left Ventricle	heart
28	chr11:100565800-100585200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:100566000-100574600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:100566800-100590000	Weak transcription	Fetal Stomach	stomach
31	chr11:100567200-100583600	Weak transcription	Fetal Intestine Small	intestine
32	chr11:100567600-100583200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:100569800-100574400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:100570200-100574800	Weak transcription	HSMMtube	muscle
35	chr11:100571200-100576600	Weak transcription	NHLF	lung
36	chr11:100571400-100573800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:100571600-100574600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:100572000-100574400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:100572000-100579600	Weak transcription	A549	lung
40	chr11:100572200-100573600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:100572200-100574600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:100572200-100574800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:100572200-100579800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:100572400-100574400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:100572400-100574400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:100572400-100574600	Weak transcription	Fetal Muscle Leg	muscle
47	chr11:100572400-100580000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:100572400-100580000	Weak transcription	Fetal Lung	lung
49	chr11:100572400-100582800	Weak transcription	Fetal Intestine Large	intestine
50	chr11:100572400-100583200	Weak transcription	Stomach Mucosa	stomach

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