Variant report

Variant	rs12294024
Chromosome Location	chr11:120300069-120300070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120106062..120108820-chr11:120297769..120301208,3	K562	blood:

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10437691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10466597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217780	1.00[AMR][1000 genomes]
rs11217784	1.00[AMR][1000 genomes]
rs11217894	1.00[AMR][1000 genomes]
rs12272851	1.00[AMR][1000 genomes]
rs12273736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278707	1.00[AMR][1000 genomes]
rs12279381	1.00[AMR][1000 genomes]
rs12280403	1.00[AMR][1000 genomes]
rs12283229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286309	1.00[AMR][1000 genomes]
rs12288495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288854	1.00[AMR][1000 genomes]
rs12288900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123749	1.00[AMR][1000 genomes]
rs28739499	1.00[AMR][1000 genomes]
rs7943655	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120271600-120300200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:120272000-120302400	Weak transcription	Brain Anterior Caudate	brain
3	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
4	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
6	chr11:120275600-120302400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:120275600-120302600	Weak transcription	K562	blood
8	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:120275800-120300200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:120275800-120314000	Weak transcription	Right Ventricle	heart
11	chr11:120276600-120302200	Weak transcription	Fetal Heart	heart
12	chr11:120277600-120319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:120285000-120302000	Weak transcription	HSMMtube	muscle
14	chr11:120285000-120302200	Weak transcription	Hela-S3	cervix
15	chr11:120285600-120319800	Weak transcription	Gastric	stomach
16	chr11:120288400-120305800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:120288600-120309600	Weak transcription	Aorta	Aorta
18	chr11:120289200-120302400	Weak transcription	Brain Substantia Nigra	brain
19	chr11:120290000-120308200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:120290400-120313400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:120290800-120302400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:120291800-120319200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:120292000-120315400	Weak transcription	Colonic Mucosa	Colon
24	chr11:120293000-120309000	Weak transcription	Fetal Stomach	stomach
25	chr11:120293200-120302600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:120294000-120316000	Weak transcription	Primary B cells from cord blood	blood
27	chr11:120295400-120312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:120295400-120318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:120295800-120302200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:120296000-120301400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:120296000-120301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:120296000-120302400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:120296000-120302400	Weak transcription	Pancreas	Pancrea
34	chr11:120296000-120302400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:120296000-120302400	Weak transcription	HMEC	breast
36	chr11:120296000-120302400	Weak transcription	NHLF	lung
37	chr11:120296000-120308400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:120296000-120309200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:120296000-120312400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:120296000-120315800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:120296000-120316200	Weak transcription	Esophagus	oesophagus
42	chr11:120296000-120316400	Weak transcription	Lung	lung
43	chr11:120296000-120317600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:120296200-120300400	Weak transcription	A549	lung
45	chr11:120296200-120302400	Weak transcription	Brain Angular Gyrus	brain
46	chr11:120296200-120302400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr11:120296200-120302400	Weak transcription	Ovary	ovary
48	chr11:120296200-120302400	Weak transcription	Small Intestine	intestine
49	chr11:120296200-120302800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:120296200-120308400	Weak transcription	Adipose Nuclei	Adipose

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