Variant report

Variant	rs7118033
Chromosome Location	chr11:100609324-100609325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17644949	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17713448	0.84[EUR][1000 genomes]
rs4121393	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4532998	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7950937	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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	chr11:100590800-100609600	Weak transcription	Fetal Intestine Small	intestine
2	chr11:100590800-100611000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:100591000-100611000	Weak transcription	NHLF	lung
4	chr11:100591000-100611200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:100598400-100610400	Weak transcription	Ovary	ovary
6	chr11:100598800-100611800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:100598800-100620000	Weak transcription	Gastric	stomach
8	chr11:100599200-100610400	Weak transcription	Psoas Muscle	Psoas
9	chr11:100599800-100610000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:100599800-100619800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:100601400-100609600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:100601400-100610400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:100601600-100609400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:100602600-100610200	Weak transcription	Fetal Intestine Large	intestine
15	chr11:100605400-100614400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:100605800-100610400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:100606000-100609600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:100606000-100610200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:100606800-100610800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:100606800-100611400	Weak transcription	Primary B cells from cord blood	blood
21	chr11:100607200-100609600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:100607200-100611800	Weak transcription	Left Ventricle	heart
23	chr11:100607400-100609400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:100607400-100609600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:100607400-100609600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:100607400-100609600	Weak transcription	NH-A	brain
27	chr11:100607400-100609600	Weak transcription	Osteobl	bone
28	chr11:100607400-100610400	Weak transcription	Stomach Mucosa	stomach
29	chr11:100607400-100611000	Weak transcription	Right Ventricle	heart
30	chr11:100607400-100611200	Weak transcription	GM12878-XiMat	blood
31	chr11:100607400-100612200	Weak transcription	Small Intestine	intestine
32	chr11:100607400-100615600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:100607600-100609600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:100607800-100610600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:100608200-100613000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:100608200-100614800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr11:100608400-100609600	Enhancers	A549	lung
38	chr11:100608400-100610800	Enhancers	HSMMtube	muscle
39	chr11:100608400-100611800	Enhancers	NHDF-Ad	bronchial
40	chr11:100608600-100609400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:100608800-100609600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:100608800-100610400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr11:100609000-100609600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:100609000-100612400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:100609000-100613000	Enhancers	Liver	Liver
46	chr11:100609000-100613200	Enhancers	Fetal Kidney	kidney
47	chr11:100609000-100613600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr11:100609200-100609400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:100609200-100609400	Flanking Active TSS	Fetal Heart	heart
50	chr11:100609200-100612400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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