Variant report

Variant	rs11600543
Chromosome Location	chr11:65298939-65298940
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	chr11:65298554-65299690	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:65298736-65299460	K562	blood:	n/a	n/a
3	POLR2A	chr11:65298892-65299124	K562	blood:	n/a	n/a
4	POLR2A	chr11:65298835-65299319	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:65298889-65299190	K562	blood:	n/a	n/a
6	POLR2A	chr11:65298842-65299653	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64576576..64578082-chr11:65296223..65299192,2	MCF-7	breast:
2	chr11:65185186..65203592-chr11:65286522..65299399,55	K562	blood:

Variant related genes	Relation type
SCYL1	TF binding region
ENSG00000133895	Chromatin interaction
ENSG00000245532	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11545200	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11602375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11604369	0.96[EUR][1000 genomes]
rs11605810	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11605937	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1194337	0.94[EUR][1000 genomes]
rs12799784	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34789990	0.92[EUR][1000 genomes]
rs35138901	0.96[EUR][1000 genomes]
rs36085849	0.87[EUR][1000 genomes]
rs3782089	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71462347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7935877	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
4	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
5	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
6	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
7	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
8	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
9	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
10	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
11	nsv541072	chr11:65171202-65313799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	946 gene(s)	inside rSNPs	diseases
12	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
13	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
14	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
15	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
16	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
17	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
18	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
19	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65293600-65299000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:65293600-65300200	Weak transcription	Psoas Muscle	Psoas
3	chr11:65293600-65305600	Weak transcription	Right Atrium	heart
4	chr11:65293600-65307600	Weak transcription	Small Intestine	intestine
5	chr11:65293800-65302800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:65294000-65300200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:65294000-65300600	Strong transcription	HSMM	muscle
8	chr11:65294000-65300800	Strong transcription	Colonic Mucosa	Colon
9	chr11:65294000-65301400	Strong transcription	Esophagus	oesophagus
10	chr11:65294000-65305800	Strong transcription	Fetal Brain Female	brain
11	chr11:65294000-65305800	Strong transcription	Fetal Intestine Large	intestine
12	chr11:65294000-65306400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:65294000-65306400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr11:65294000-65306400	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:65294000-65306600	Weak transcription	Fetal Heart	heart
16	chr11:65294000-65306800	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:65294000-65307000	Strong transcription	Lung	lung
18	chr11:65294000-65307200	Strong transcription	Brain Cingulate Gyrus	brain
19	chr11:65294200-65300400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr11:65294200-65300400	Strong transcription	GM12878-XiMat	blood
21	chr11:65294200-65301000	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr11:65294200-65301200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:65294200-65301200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:65294200-65301200	Strong transcription	NHEK	skin
25	chr11:65294200-65304800	Strong transcription	Fetal Muscle Leg	muscle
26	chr11:65294200-65306200	Strong transcription	Brain Hippocampus Middle	brain
27	chr11:65294200-65306200	Weak transcription	Fetal Brain Male	brain
28	chr11:65294200-65306200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:65294200-65306400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr11:65294200-65306800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:65294200-65307200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:65294400-65301200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:65294400-65301200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr11:65294400-65302400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:65294400-65306000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:65294400-65306200	Strong transcription	Fetal Intestine Small	intestine
37	chr11:65294400-65306400	Strong transcription	Brain Germinal Matrix	brain
38	chr11:65294400-65306400	Strong transcription	Brain Substantia Nigra	brain
39	chr11:65294400-65306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:65294400-65307000	Strong transcription	Fetal Stomach	stomach
41	chr11:65294400-65307200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:65294400-65307400	Strong transcription	NHLF	lung
43	chr11:65294600-65300000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:65294600-65301200	Strong transcription	Gastric	stomach
45	chr11:65294600-65304600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr11:65294600-65306000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:65294600-65306400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:65294600-65306400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:65294600-65307000	Strong transcription	Adipose Nuclei	Adipose
50	chr11:65294600-65307200	Strong transcription	Placenta	Placenta

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