Variant report

Variant	rs72876732
Chromosome Location	chr11:18550800-18550801
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:18550150-18552072	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:18546581..18551368-chr11:18654825..18657467,6	K562	blood:
2	chr11:18479966..18482806-chr11:18549124..18551467,2	K562	blood:
3	chr11:18546489..18551340-chr11:18552893..18563258,14	MCF-7	breast:

Variant related genes	Relation type
TSG101	TF binding region
ENSG00000151116	Chromatin interaction
ENSG00000179119	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72871713	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72878882	1.00[EUR][1000 genomes]
rs72878890	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers 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	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1038015	chr11:18435855-18558211	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers 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 target site	72 gene(s)	inside rSNPs	diseases
5	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18549000-18576400	Weak transcription	Gastric	stomach
2	chr11:18549000-18577000	Weak transcription	Spleen	Spleen
3	chr11:18549200-18551200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:18549200-18554200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:18549200-18568200	Weak transcription	Lung	lung
6	chr11:18549200-18577000	Weak transcription	Esophagus	oesophagus
7	chr11:18549200-18583400	Weak transcription	Small Intestine	intestine
8	chr11:18549200-18591400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:18549400-18553800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:18549400-18555200	Weak transcription	Aorta	Aorta
11	chr11:18549400-18576000	Weak transcription	Ovary	ovary
12	chr11:18549400-18576400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr11:18549400-18577000	Weak transcription	Colonic Mucosa	Colon
14	chr11:18549400-18579200	Weak transcription	Pancreas	Pancrea
15	chr11:18549400-18583400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:18549400-18594400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:18549600-18552000	Weak transcription	Placenta	Placenta
18	chr11:18549600-18552400	Weak transcription	Primary B cells from cord blood	blood
19	chr11:18549600-18552600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:18549600-18552600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:18549600-18552600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr11:18549600-18553600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:18549600-18555200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:18549600-18555200	Weak transcription	Adipose Nuclei	Adipose
25	chr11:18549600-18555200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:18549600-18555400	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:18549600-18555400	Weak transcription	HSMMtube	muscle
28	chr11:18549600-18557800	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:18549600-18565000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:18549600-18565400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:18549600-18565800	Weak transcription	Brain Germinal Matrix	brain
32	chr11:18549600-18567600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:18549600-18568000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:18549600-18568400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:18549600-18575000	Weak transcription	Fetal Brain Female	brain
36	chr11:18549600-18575200	Weak transcription	Fetal Kidney	kidney
37	chr11:18549600-18576400	Weak transcription	Brain Substantia Nigra	brain
38	chr11:18549600-18576600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:18549600-18576800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:18549600-18577200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:18549600-18577800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:18549600-18608600	Weak transcription	Fetal Heart	heart
43	chr11:18549600-18609000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:18549600-18609000	Weak transcription	Fetal Brain Male	brain
45	chr11:18549800-18550800	Enhancers	HepG2	liver
46	chr11:18549800-18551000	Weak transcription	GM12878-XiMat	blood
47	chr11:18549800-18551200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:18549800-18552400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr11:18549800-18552600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:18549800-18552600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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