Variant report

Variant	rs537666
Chromosome Location	chr11:68273308-68273309
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	REST	chr11:68273118-68273323	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr11:68273158-68273402	GM12878	blood:	n/a	n/a
3	EP300	chr11:68273135-68273411	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000222339	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10750828	1.00[AFR][1000 genomes]
rs2510381	1.00[AFR][1000 genomes]
rs630456	1.00[AFR][1000 genomes]
rs662856	1.00[AFR][1000 genomes]
rs693747	1.00[AFR][1000 genomes]
rs7107592	1.00[AFR][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	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68238600-68287800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:68256600-68287200	Weak transcription	NHEK	skin
3	chr11:68260000-68274200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:68261600-68278000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr11:68262200-68277000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr11:68264600-68273400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr11:68264600-68273600	Enhancers	Ovary	ovary
8	chr11:68265000-68275200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:68265200-68302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:68265600-68280000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:68266200-68277600	Weak transcription	HMEC	breast
12	chr11:68266200-68279000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:68266400-68276000	Weak transcription	HSMM	muscle
14	chr11:68266400-68278400	Enhancers	Rectal Smooth Muscle	rectum
15	chr11:68266600-68276000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:68267000-68274000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:68267000-68274600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:68267000-68276000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:68267000-68278200	Weak transcription	Hela-S3	cervix
20	chr11:68267000-68280000	Weak transcription	Thymus	Thymus
21	chr11:68267200-68275400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:68267200-68283000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:68267200-68287800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:68267400-68276400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:68267400-68287000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:68268000-68274600	Enhancers	Right Atrium	heart
27	chr11:68268000-68279400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr11:68268600-68277800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:68268600-68290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:68268600-68303800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:68269200-68274200	Enhancers	Primary hematopoietic stem cells	blood
32	chr11:68269200-68275800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:68270000-68273400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr11:68270000-68274200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:68270000-68274800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr11:68270000-68274800	Enhancers	Fetal Heart	heart
37	chr11:68270000-68275200	Enhancers	Brain Hippocampus Middle	brain
38	chr11:68270200-68273400	Enhancers	Brain Cingulate Gyrus	brain
39	chr11:68270400-68274400	Enhancers	Brain Anterior Caudate	brain
40	chr11:68270600-68273400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:68270600-68273600	Enhancers	Brain Angular Gyrus	brain
42	chr11:68270600-68273800	Enhancers	NHDF-Ad	bronchial
43	chr11:68270600-68276400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:68270600-68276800	Enhancers	Adipose Nuclei	Adipose
45	chr11:68270800-68273600	Weak transcription	HepG2	liver
46	chr11:68270800-68273800	Enhancers	GM12878-XiMat	blood
47	chr11:68270800-68274800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:68271000-68273600	Enhancers	K562	blood
49	chr11:68271000-68274800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr11:68271000-68275000	Enhancers	Pancreatic Islets	Pancreatic Islet

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