Variant report

Variant	rs73402362
Chromosome Location	chr11:9228712-9228713
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	TCF12	chr11:9228028-9228971	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr11:9227899-9228812	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9227494..9229881-chr11:9482227..9483923,2	K562	blood:

Variant related genes	Relation type
DENND5A	TF binding region
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10743100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10743102	1.00[EUR][1000 genomes]
rs10743103	1.00[EUR][1000 genomes]
rs10840197	1.00[EUR][1000 genomes]
rs10840198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042254	1.00[EUR][1000 genomes]
rs12225143	1.00[EUR][1000 genomes]
rs1809855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2016375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4243946	1.00[EUR][1000 genomes]
rs4331093	1.00[EUR][1000 genomes]
rs4372456	1.00[AMR][1000 genomes]
rs4414214	1.00[EUR][1000 genomes]
rs4420271	1.00[EUR][1000 genomes]
rs4450172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4589301	1.00[EUR][1000 genomes]
rs4601780	1.00[EUR][1000 genomes]
rs4625467	1.00[EUR][1000 genomes]
rs4644643	1.00[EUR][1000 genomes]
rs4910448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56306422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57052969	1.00[EUR][1000 genomes]
rs57655359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58309260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58361373	1.00[EUR][1000 genomes]
rs58795427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59398820	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59400072	1.00[EUR][1000 genomes]
rs59618374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59984721	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60542289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60602151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60731772	1.00[EUR][1000 genomes]
rs60960132	1.00[EUR][1000 genomes]
rs61217844	1.00[EUR][1000 genomes]
rs61379640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61409427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6486149	1.00[EUR][1000 genomes]
rs7119158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119887	1.00[EUR][1000 genomes]
rs73402319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402344	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73402346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404303	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404305	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412019	1.00[EUR][1000 genomes]
rs73412032	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73412059	1.00[AMR][1000 genomes]
rs73416044	1.00[EUR][1000 genomes]
rs73416046	1.00[EUR][1000 genomes]
rs73416057	1.00[EUR][1000 genomes]
rs7931491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7932136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7932954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7935518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7935573	1.00[AMR][1000 genomes]
rs7942119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7944130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7944713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7948651	1.00[AMR][1000 genomes];1.00[EUR][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	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:117 , 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	chr11:9200600-9229000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:9200600-9230400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:9201000-9230800	Weak transcription	HMEC	breast
10	chr11:9202600-9251200	Weak transcription	Small Intestine	intestine
11	chr11:9221600-9229200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:9223600-9230800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:9224000-9232600	Weak transcription	Colonic Mucosa	Colon
14	chr11:9225400-9236800	Weak transcription	Primary B cells from cord blood	blood
15	chr11:9225600-9229000	Weak transcription	Fetal Intestine Large	intestine
16	chr11:9225600-9229800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:9225600-9230800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:9225600-9232400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:9225800-9229000	Weak transcription	Fetal Intestine Small	intestine
20	chr11:9225800-9229400	Weak transcription	Brain Angular Gyrus	brain
21	chr11:9225800-9229600	Weak transcription	K562	blood
22	chr11:9225800-9229800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:9225800-9230200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:9225800-9230200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr11:9225800-9230200	Weak transcription	Fetal Thymus	thymus
26	chr11:9225800-9230400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:9225800-9230400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr11:9225800-9230400	Weak transcription	Ovary	ovary
29	chr11:9225800-9230400	Weak transcription	Psoas Muscle	Psoas
30	chr11:9225800-9230400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:9225800-9230400	Weak transcription	Right Ventricle	heart
32	chr11:9225800-9230600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:9225800-9230600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:9225800-9230800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:9225800-9231200	Weak transcription	NHEK	skin
36	chr11:9225800-9232000	Weak transcription	Spleen	Spleen
37	chr11:9225800-9234400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr11:9225800-9236200	Weak transcription	Thymus	Thymus
39	chr11:9225800-9237800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:9225800-9237800	Weak transcription	Gastric	stomach
41	chr11:9226000-9229000	Weak transcription	GM12878-XiMat	blood
42	chr11:9226000-9229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:9226000-9229800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:9226000-9229800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:9226000-9230200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:9226000-9230200	Weak transcription	Brain Germinal Matrix	brain
47	chr11:9226000-9230400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:9226000-9230400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:9226000-9230400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:9226000-9230800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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