Variant report

Variant	rs7926511
Chromosome Location	chr11:18551392-18551393
allele	A/G
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	Cell Stage
1	chr11:18551088..18554076-chr11:18654231..18656218,2	K562	blood:
2	chr11:18479966..18482806-chr11:18549124..18551467,2	K562	blood:

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

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12790143	1.00[ASN][1000 genomes]
rs16935609	0.83[ASN][1000 genomes]
rs2121385	1.00[ASN][1000 genomes]
rs2658558	1.00[ASN][1000 genomes]
rs34242612	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56811637	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58804032	0.83[ASN][1000 genomes]
rs58988307	0.83[ASN][1000 genomes]
rs61208217	1.00[ASN][1000 genomes]
rs61424905	0.83[ASN][1000 genomes]
rs61752314	1.00[ASN][1000 genomes]
rs7106180	1.00[ASN][1000 genomes]
rs7110470	0.83[ASN][1000 genomes]
rs73422545	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73422599	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73422601	1.00[ASN][1000 genomes]
rs73424410	1.00[ASN][1000 genomes]
rs73424413	1.00[ASN][1000 genomes]
rs73424436	0.83[ASN][1000 genomes]
rs73424437	0.83[ASN][1000 genomes]
rs73424439	0.83[ASN][1000 genomes]
rs73424445	0.83[ASN][1000 genomes]
rs73424447	0.83[ASN][1000 genomes]
rs73424452	0.83[ASN][1000 genomes]
rs73424463	0.83[ASN][1000 genomes]
rs73424468	0.83[ASN][1000 genomes]
rs73424475	0.83[ASN][1000 genomes]
rs7936497	0.83[ASN][1000 genomes]
rs7938645	0.83[ASN][1000 genomes]
rs7942526	0.83[ASN][1000 genomes]
rs7951729	0.83[ASN][1000 genomes]
rs872872	0.83[ASN][1000 genomes]
rs872873	0.83[ASN][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:108 , 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	chr11:18549200-18554200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:18549200-18568200	Weak transcription	Lung	lung
5	chr11:18549200-18577000	Weak transcription	Esophagus	oesophagus
6	chr11:18549200-18583400	Weak transcription	Small Intestine	intestine
7	chr11:18549200-18591400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:18549400-18553800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:18549400-18555200	Weak transcription	Aorta	Aorta
10	chr11:18549400-18576000	Weak transcription	Ovary	ovary
11	chr11:18549400-18576400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr11:18549400-18577000	Weak transcription	Colonic Mucosa	Colon
13	chr11:18549400-18579200	Weak transcription	Pancreas	Pancrea
14	chr11:18549400-18583400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:18549400-18594400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:18549600-18552000	Weak transcription	Placenta	Placenta
17	chr11:18549600-18552400	Weak transcription	Primary B cells from cord blood	blood
18	chr11:18549600-18552600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:18549600-18552600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:18549600-18552600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr11:18549600-18553600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:18549600-18555200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:18549600-18555200	Weak transcription	Adipose Nuclei	Adipose
24	chr11:18549600-18555200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:18549600-18555400	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:18549600-18555400	Weak transcription	HSMMtube	muscle
27	chr11:18549600-18557800	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:18549600-18565000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:18549600-18565400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:18549600-18565800	Weak transcription	Brain Germinal Matrix	brain
31	chr11:18549600-18567600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:18549600-18568000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr11:18549600-18568400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:18549600-18575000	Weak transcription	Fetal Brain Female	brain
35	chr11:18549600-18575200	Weak transcription	Fetal Kidney	kidney
36	chr11:18549600-18576400	Weak transcription	Brain Substantia Nigra	brain
37	chr11:18549600-18576600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:18549600-18576800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:18549600-18577200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:18549600-18577800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:18549600-18608600	Weak transcription	Fetal Heart	heart
42	chr11:18549600-18609000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:18549600-18609000	Weak transcription	Fetal Brain Male	brain
44	chr11:18549800-18552400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr11:18549800-18552600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:18549800-18552600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:18549800-18552600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:18549800-18552600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr11:18549800-18552600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:18549800-18552600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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