Variant report

Variant	rs17126204
Chromosome Location	chr11:122018346-122018347
allele	C/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	chr11:122018239-122018384	A549	lung:	n/a	n/a
2	POLR2A	chr11:121998304-122037687	U87	brain:	n/a	n/a
3	POLR2A	chr11:122010818-122024303	U87	brain:	n/a	n/a
4	POLR2A	chr11:121998304-122037693	U87	brain:	n/a	n/a
5	POLR2A	chr11:122014760-122024219	U87	brain:	n/a	n/a
6	POLR2A	chr11:122017743-122018713	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:122018153-122018720	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:122015613-122018681	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
MIRLET7A2	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17126105	1.00[YRI][hapmap]
rs17126108	1.00[YRI][hapmap]
rs17126110	1.00[YRI][hapmap]
rs17126170	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832288	chr11:121962691-122161533	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	805 gene(s)	inside rSNPs	diseases
2	nsv898430	chr11:121979678-122056327	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	546 gene(s)	inside rSNPs	diseases
3	nsv832289	chr11:122011574-122207420	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	546 gene(s)	inside rSNPs	diseases
4	esv275465	chr11:122014610-122022525	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	331 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:122006400-122022400	Genic enhancers	HSMM	muscle
2	chr11:122007600-122027600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:122008400-122024400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:122008400-122024800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:122010200-122026600	Weak transcription	Psoas Muscle	Psoas
6	chr11:122011600-122021400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:122012600-122019600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:122012800-122019200	Weak transcription	Fetal Lung	lung
9	chr11:122012800-122024600	Weak transcription	Ovary	ovary
10	chr11:122013000-122021400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:122013200-122019400	Weak transcription	Brain Anterior Caudate	brain
12	chr11:122013200-122022600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:122014600-122028200	Weak transcription	Fetal Kidney	kidney
14	chr11:122015000-122021000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:122015200-122018800	Genic enhancers	HMEC	breast
16	chr11:122015200-122019600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:122015200-122024400	Genic enhancers	NHLF	lung
18	chr11:122015200-122026400	Genic enhancers	NH-A	brain
19	chr11:122015400-122021200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:122015800-122018600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:122016000-122018800	Genic enhancers	NHEK	skin
22	chr11:122016000-122019200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:122016800-122073400	Weak transcription	Placenta	Placenta
24	chr11:122017000-122019600	Enhancers	HUVEC	blood vessel
25	chr11:122017000-122019800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:122017200-122021400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:122017400-122018400	Genic enhancers	A549	lung
28	chr11:122017400-122019400	Genic enhancers	Muscle Satellite Cultured Cells	--
29	chr11:122017400-122019400	Weak transcription	Brain Substantia Nigra	brain
30	chr11:122017400-122020000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:122017400-122021200	Genic enhancers	Osteobl	bone
32	chr11:122017400-122024800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:122017600-122018400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:122017600-122018600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:122017600-122018600	Enhancers	NHDF-Ad	bronchial
36	chr11:122017600-122018800	Weak transcription	Brain Angular Gyrus	brain
37	chr11:122017600-122019800	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:122017600-122032000	Weak transcription	Hela-S3	cervix
39	chr11:122018000-122018800	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:122018200-122018400	Genic enhancers	Aorta	Aorta
41	chr11:122018200-122018600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:122018200-122018600	Genic enhancers	HSMMtube	muscle

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