Variant report

Variant	rs12279931
Chromosome Location	chr11:100582038-100582039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:100578654..100584539-chr11:100585758..100591241,5	K562	blood:
2	chr11:100572186..100576891-chr11:100577212..100582254,4	K562	blood:
3	chr11:100574599..100577335-chr11:100579231..100582254,4	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11224332	1.00[AMR][1000 genomes]
rs11224341	1.00[AMR][1000 genomes]
rs11224343	1.00[AMR][1000 genomes]
rs11224346	1.00[AMR][1000 genomes]
rs11224385	1.00[AMR][1000 genomes]
rs11224404	1.00[AFR][1000 genomes]
rs11224418	0.90[AFR][1000 genomes]
rs11224428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11224429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11224438	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11224465	1.00[AMR][1000 genomes]
rs12274762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275133	1.00[AMR][1000 genomes]
rs12275796	1.00[AMR][1000 genomes]
rs12277269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281021	1.00[AMR][1000 genomes]
rs12281097	1.00[AMR][1000 genomes]
rs12284980	1.00[AFR][1000 genomes]
rs12286434	1.00[AMR][1000 genomes]
rs12286625	1.00[AMR][1000 genomes]
rs12287226	1.00[AMR][1000 genomes]
rs12295600	1.00[AMR][1000 genomes]
rs13377291	0.91[YRI][hapmap];0.93[AFR][1000 genomes]
rs56805393	1.00[AMR][1000 genomes]
rs61104011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565305	1.00[AMR][1000 genomes]
rs73565310	1.00[AMR][1000 genomes]
rs73565331	1.00[AMR][1000 genomes]
rs73565337	1.00[AMR][1000 genomes]
rs73565348	1.00[AMR][1000 genomes]
rs73567534	1.00[AMR][1000 genomes]
rs73571424	1.00[AMR][1000 genomes]
rs73573332	1.00[AMR][1000 genomes]
rs73573395	0.97[AFR][1000 genomes]
rs73575539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580523	1.00[AMR][1000 genomes]
rs7933646	1.00[YRI][hapmap];1.00[AFR][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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100561000-100590200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr11:100561000-100590600	Weak transcription	Lung	lung
3	chr11:100563800-100585800	Weak transcription	Adipose Nuclei	Adipose
4	chr11:100564000-100583200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:100564400-100586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:100565800-100585200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:100566800-100590000	Weak transcription	Fetal Stomach	stomach
8	chr11:100567200-100583600	Weak transcription	Fetal Intestine Small	intestine
9	chr11:100567600-100583200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:100572400-100582800	Weak transcription	Fetal Intestine Large	intestine
11	chr11:100572400-100583200	Weak transcription	Stomach Mucosa	stomach
12	chr11:100572400-100590000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:100572400-100590200	Weak transcription	Placenta	Placenta
14	chr11:100575200-100582600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:100575200-100590000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:100575400-100585800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:100575400-100586200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:100575400-100587200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:100575400-100590200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:100575600-100586000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:100576000-100585000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:100576200-100590200	Weak transcription	Small Intestine	intestine
23	chr11:100576800-100587600	Weak transcription	Primary B cells from cord blood	blood
24	chr11:100578600-100583200	Weak transcription	Pancreas	Pancrea
25	chr11:100580200-100590200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:100580600-100582800	Weak transcription	Liver	Liver
27	chr11:100580600-100586000	Weak transcription	A549	lung
28	chr11:100580800-100583200	Weak transcription	K562	blood
29	chr11:100580800-100583400	Weak transcription	Fetal Lung	lung
30	chr11:100580800-100585200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:100580800-100585600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:100580800-100585600	Weak transcription	NHLF	lung
33	chr11:100580800-100585800	Weak transcription	NHDF-Ad	bronchial
34	chr11:100580800-100586000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:100580800-100586000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:100580800-100586000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:100580800-100586200	Weak transcription	Psoas Muscle	Psoas
38	chr11:100580800-100589800	Weak transcription	Fetal Heart	heart
39	chr11:100581000-100585800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:100581000-100586000	Weak transcription	GM12878-XiMat	blood
41	chr11:100581000-100589800	Weak transcription	HSMMtube	muscle
42	chr11:100581000-100590000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:100581200-100586000	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:100581600-100582200	Enhancers	Left Ventricle	heart

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