Variant report

Variant	rs12296016
Chromosome Location	chr11:9233307-9233308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9227104..9229511-chr11:9232191..9234529,3	K562	blood:
2	chr11:9223393..9225433-chr11:9231691..9234653,2	K562	blood:
3	chr11:9227104..9229815-chr11:9232827..9234666,3	K562	blood:

Variant related genes	Relation type
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10770000	0.94[ASN][1000 genomes]
rs10770001	0.94[ASN][1000 genomes]
rs11042227	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11602591	0.86[AMR][1000 genomes]
rs11608172	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12289113	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12295767	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12420463	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12577661	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12796666	0.84[AMR][1000 genomes]
rs12801814	0.85[AMR][1000 genomes]
rs2133216	0.86[AMR][1000 genomes]
rs2873069	0.95[ASN][1000 genomes]
rs34446443	0.84[AMR][1000 genomes]
rs34494849	0.90[AMR][1000 genomes]
rs34716494	0.89[AMR][1000 genomes]
rs34729888	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35381016	0.85[AMR][1000 genomes]
rs35757766	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35955530	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61875672	0.86[AMR][1000 genomes]
rs61875673	0.85[AMR][1000 genomes]
rs61877814	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6486210	0.94[ASN][1000 genomes]
rs6486215	0.94[ASN][1000 genomes]
rs6486226	0.97[ASN][1000 genomes]
rs6486231	0.82[ASN][1000 genomes]
rs7104221	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7109911	0.90[ASN][1000 genomes]
rs7112540	0.91[ASN][1000 genomes]
rs7114688	0.94[ASN][1000 genomes]
rs7115062	0.97[ASN][1000 genomes]
rs7116459	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7124178	0.85[AMR][1000 genomes]
rs7396439	0.94[ASN][1000 genomes]
rs7482630	0.82[ASN][1000 genomes]
rs770	0.94[ASN][1000 genomes]
rs7924664	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7933448	0.93[ASN][1000 genomes]
rs7941520	0.94[ASN][1000 genomes]
rs7951700	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs952374	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9736263	0.93[ASN][1000 genomes]
rs9888193	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9888229	0.90[ASN][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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
2	chr11:9202600-9251200	Weak transcription	Small Intestine	intestine
3	chr11:9225400-9236800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:9225800-9234400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr11:9225800-9236200	Weak transcription	Thymus	Thymus
6	chr11:9225800-9237800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:9225800-9237800	Weak transcription	Gastric	stomach
8	chr11:9226000-9236400	Weak transcription	Lung	lung
9	chr11:9226000-9236800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:9226000-9241200	Weak transcription	Aorta	Aorta
11	chr11:9226000-9252000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:9226000-9252800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:9226200-9236200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:9227200-9236600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:9227400-9236200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:9227400-9236400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:9227400-9250400	Weak transcription	Fetal Stomach	stomach
18	chr11:9227600-9236400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:9227600-9250600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:9228400-9236400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:9228400-9236600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:9228400-9236600	Weak transcription	HUVEC	blood vessel
23	chr11:9229200-9236400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr11:9229800-9235200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr11:9229800-9237600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:9230200-9235200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:9230400-9233400	Enhancers	Osteobl	bone
28	chr11:9230400-9253400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:9230600-9235800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:9230800-9236600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:9231000-9234200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:9231000-9235600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:9231000-9235600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:9231000-9236200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:9231000-9236200	Weak transcription	Right Atrium	heart
36	chr11:9231000-9252200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:9231200-9233600	Enhancers	NHEK	skin
38	chr11:9231200-9235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:9231200-9235800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:9231200-9235800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:9231200-9236400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:9231200-9236400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:9231200-9236400	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:9231200-9241200	Weak transcription	Adipose Nuclei	Adipose
45	chr11:9231400-9233800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:9231400-9235600	Weak transcription	Right Ventricle	heart
47	chr11:9231400-9250600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:9231800-9233400	Enhancers	Fetal Thymus	thymus
49	chr11:9231800-9233600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:9231800-9233800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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