Variant report

Variant	rs472852
Chromosome Location	chr11:65167761-65167762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65166471..65169487-chr11:65266018..65270408,5	K562	blood:

Variant related genes	Relation type
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2957264	0.83[AMR][1000 genomes]
rs2957266	0.93[AFR][1000 genomes]
rs3015963	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs557777	0.83[AMR][1000 genomes]
rs590601	0.83[AMR][1000 genomes]
rs674400	0.97[AFR][1000 genomes]
rs683338	0.83[AMR][1000 genomes]
rs7111083	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic 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	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong 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	474 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	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
7	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic 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	942 gene(s)	inside rSNPs	diseases
8	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
9	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	833 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65156600-65169800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr11:65156600-65169800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:65157200-65182800	Weak transcription	Psoas Muscle	Psoas
4	chr11:65157400-65170800	Strong transcription	Thymus	Thymus
5	chr11:65157600-65167800	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:65157600-65169000	Weak transcription	Stomach Mucosa	stomach
7	chr11:65157800-65170800	Weak transcription	K562	blood
8	chr11:65158200-65168400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:65158200-65170400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:65158400-65167800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:65158400-65168000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:65158400-65169600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:65158600-65168000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr11:65158600-65170200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:65158600-65183200	Weak transcription	Fetal Brain Male	brain
16	chr11:65158600-65183400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:65158800-65168400	Strong transcription	Dnd41	blood
18	chr11:65158800-65172200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:65158800-65183000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:65158800-65183400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:65159000-65168800	Strong transcription	NHLF	lung
22	chr11:65159000-65169200	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr11:65159000-65170200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:65159000-65171400	Weak transcription	NHDF-Ad	bronchial
25	chr11:65159000-65173400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:65159000-65183800	Weak transcription	Fetal Kidney	kidney
27	chr11:65159200-65182000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:65159400-65168800	Strong transcription	Fetal Brain Female	brain
29	chr11:65159400-65169000	Strong transcription	Brain Germinal Matrix	brain
30	chr11:65159400-65172000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr11:65159400-65180800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:65159400-65181600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:65159400-65181800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr11:65159400-65182200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:65159600-65171400	Strong transcription	Brain Hippocampus Middle	brain
36	chr11:65159600-65172600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:65159600-65173400	Strong transcription	Brain Cingulate Gyrus	brain
38	chr11:65159600-65179400	Weak transcription	Right Atrium	heart
39	chr11:65159600-65181800	Strong transcription	Fetal Stomach	stomach
40	chr11:65159600-65183400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:65159800-65167800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr11:65159800-65168400	Strong transcription	NHEK	skin
43	chr11:65159800-65168800	Strong transcription	HMEC	breast
44	chr11:65159800-65169800	Strong transcription	Lung	lung
45	chr11:65159800-65170200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr11:65159800-65171000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr11:65159800-65171000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:65159800-65171000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr11:65159800-65171200	Strong transcription	Fetal Muscle Leg	muscle
50	chr11:65159800-65174200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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