Variant report

Variant	rs12290377
Chromosome Location	chr11:9230187-9230188
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	RUNX3	chr11:9230168-9231582	GM12878	blood:	n/a	n/a
2	PML	chr11:9230173-9231425	GM12878	blood:	n/a	n/a
3	NFIC	chr11:9230034-9233381	GM12878	blood:	n/a	n/a
4	FOXM1	chr11:9230170-9231524	GM12878	blood:	n/a	n/a
5	BCLAF1	chr11:9229999-9230987	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9229489..9231111-chr11:9235259..9236872,2	K562	blood:

Variant related genes	Relation type
DENND5A	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10466509	0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs12273976	0.82[YRI][hapmap];0.83[AMR][1000 genomes]
rs12285553	0.83[AMR][1000 genomes]
rs12286174	0.82[YRI][hapmap];0.83[AMR][1000 genomes]
rs12291263	0.82[YRI][hapmap]

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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9162000-9230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
3	chr11:9171800-9230200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:9172000-9230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:9182400-9231800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:9199800-9230400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:9200600-9230400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:9201000-9230800	Weak transcription	HMEC	breast
9	chr11:9202600-9251200	Weak transcription	Small Intestine	intestine
10	chr11:9223600-9230800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:9224000-9232600	Weak transcription	Colonic Mucosa	Colon
12	chr11:9225400-9236800	Weak transcription	Primary B cells from cord blood	blood
13	chr11:9225600-9230800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:9225600-9232400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:9225800-9230200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:9225800-9230200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:9225800-9230200	Weak transcription	Fetal Thymus	thymus
18	chr11:9225800-9230400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:9225800-9230400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr11:9225800-9230400	Weak transcription	Ovary	ovary
21	chr11:9225800-9230400	Weak transcription	Psoas Muscle	Psoas
22	chr11:9225800-9230400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:9225800-9230400	Weak transcription	Right Ventricle	heart
24	chr11:9225800-9230600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:9225800-9230600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:9225800-9230800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:9225800-9231200	Weak transcription	NHEK	skin
28	chr11:9225800-9232000	Weak transcription	Spleen	Spleen
29	chr11:9225800-9234400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr11:9225800-9236200	Weak transcription	Thymus	Thymus
31	chr11:9225800-9237800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:9225800-9237800	Weak transcription	Gastric	stomach
33	chr11:9226000-9230200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:9226000-9230200	Weak transcription	Brain Germinal Matrix	brain
35	chr11:9226000-9230400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:9226000-9230400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:9226000-9230400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:9226000-9230800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:9226000-9232000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:9226000-9236400	Weak transcription	Lung	lung
41	chr11:9226000-9236800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:9226000-9241200	Weak transcription	Aorta	Aorta
43	chr11:9226000-9252000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:9226000-9252800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr11:9226200-9236200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:9226600-9230600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:9226800-9230800	Weak transcription	Hela-S3	cervix
48	chr11:9227200-9230400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:9227200-9236600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:9227400-9230200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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