Variant report

Variant	rs9666433
Chromosome Location	chr11:47596789-47596790
allele	C/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	chr11:47596766-47597177	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47572081..47573898-chr11:47594438..47596905,2	K562	blood:

Variant related genes	Relation type
NDUFS3	TF binding region
ENSG00000231880	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11537751	0.88[EUR][1000 genomes]
rs11601934	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11602333	0.80[AMR][1000 genomes]
rs34603363	0.83[AMR][1000 genomes]
rs36016346	0.88[EUR][1000 genomes]
rs7945021	1.00[AFR][1000 genomes];0.83[AMR][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	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
2	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47588000-47599800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47588000-47600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:47588600-47598600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:47588600-47598800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:47588600-47599000	Strong transcription	Fetal Stomach	stomach
6	chr11:47588600-47599200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:47589200-47599000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:47589200-47599000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:47589400-47599400	Strong transcription	Fetal Intestine Small	intestine
10	chr11:47589800-47597200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:47589800-47597600	Strong transcription	A549	lung
12	chr11:47589800-47598200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:47589800-47598600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:47589800-47599000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:47589800-47599000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:47589800-47599200	Strong transcription	Fetal Thymus	thymus
17	chr11:47590000-47597200	Strong transcription	Dnd41	blood
18	chr11:47590000-47598000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:47590000-47599000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr11:47590000-47599400	Strong transcription	Fetal Intestine Large	intestine
21	chr11:47590200-47599200	Strong transcription	Placenta	Placenta
22	chr11:47590400-47599200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:47590600-47598600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:47591000-47596800	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:47591000-47597200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:47591000-47597400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:47591000-47597600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr11:47591000-47597600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:47591000-47597800	Strong transcription	HepG2	liver
30	chr11:47591000-47598000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:47591000-47598000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:47591000-47598800	Strong transcription	Primary T cells from cord blood	blood
33	chr11:47591000-47599000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:47591000-47599000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:47591000-47599200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr11:47591200-47597200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr11:47591200-47597600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:47591200-47597600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:47591200-47597600	Strong transcription	Spleen	Spleen
40	chr11:47591200-47599000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:47591200-47599000	Strong transcription	Lung	lung
42	chr11:47591200-47599000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:47591400-47598600	Strong transcription	Thymus	Thymus
44	chr11:47591800-47597600	Strong transcription	Primary B cells from cord blood	blood
45	chr11:47592200-47596800	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr11:47592600-47598600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:47592800-47597800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:47592800-47598000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:47593000-47597000	Strong transcription	Gastric	stomach
50	chr11:47593000-47597400	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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