Variant report

Variant	rs12289963
Chromosome Location	chr11:45827050-45827051
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45827001..45828781-chr11:46403254..46405047,2	K562	blood:
2	chr11:45824002..45829445-chr11:45867072..45871709,12	MCF-7	breast:
3	chr11:45825804..45827423-chr13:20531319..20533538,2	MCF-7	breast:
4	chr11:45826170..45827093-chr11:45939119..45939790,2	NB4	blood:
5	chr11:45826946..45827805-chr21:40554791..40555334,2	Hela-S3	cervix:
6	chr11:45825531..45829159-chr11:45866510..45869041,3	K562	blood:
7	chr10:65280654..65281403-chr11:45826054..45827052,3	HCT-116	colon:
8	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
9	chr1:11969686..11970356-chr11:45825973..45827120,3	Hela-S3	cervix:
10	chr11:45826569..45827206-chr9:136932245..136933236,2	Hela-S3	cervix:
11	chr11:45826365..45827084-chr7:108210272..108211105,2	Hela-S3	cervix:
12	chr11:45826717..45827615-chr6:7910502..7911042,2	Hela-S3	cervix:
13	chr11:45826438..45827115-chr15:65596884..65597844,3	Hela-S3	cervix:
14	chr11:45826491..45827349-chr18:33077580..33078338,2	Hela-S3	cervix:
15	chr11:45823993..45827958-chr11:86511064..86514676,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000121741	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000169925	Chromatin interaction
ENSG00000121680	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000267140	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000153391	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000165476	Chromatin interaction
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11821278	1.00[ASN][1000 genomes]
rs11823366	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824379	1.00[ASN][1000 genomes]
rs16938364	1.00[ASN][1000 genomes]
rs16938365	1.00[ASN][1000 genomes]
rs16938366	1.00[ASN][1000 genomes]
rs2467286	1.00[ASN][1000 genomes]
rs2593737	1.00[ASN][1000 genomes]
rs2593740	1.00[ASN][1000 genomes]
rs2593742	1.00[ASN][1000 genomes]
rs3808976	0.83[AFR][1000 genomes]
rs57825091	1.00[ASN][1000 genomes]
rs58844328	1.00[ASN][1000 genomes]
rs61089715	1.00[ASN][1000 genomes]
rs61884469	0.80[EUR][1000 genomes]
rs61884470	0.80[EUR][1000 genomes]
rs73466337	1.00[ASN][1000 genomes]
rs73466369	1.00[ASN][1000 genomes]
rs73466372	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897315	chr11:45817637-45838926	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45825200-45827200	Active TSS	Brain Anterior Caudate	brain
2	chr11:45825200-45827200	Active TSS	Brain Cingulate Gyrus	brain
3	chr11:45825200-45827600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:45825200-45827600	Active TSS	Fetal Kidney	kidney
5	chr11:45825400-45827200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:45825400-45827200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:45825400-45827200	Active TSS	Liver	Liver
8	chr11:45825400-45827200	Active TSS	Brain Angular Gyrus	brain
9	chr11:45825400-45827200	Active TSS	Brain Hippocampus Middle	brain
10	chr11:45825400-45827200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr11:45825400-45827200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:45825400-45827200	Active TSS	Brain Substantia Nigra	brain
13	chr11:45825400-45827200	Active TSS	Colon Smooth Muscle	Colon
14	chr11:45825400-45827200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr11:45825400-45827200	Active TSS	Esophagus	oesophagus
16	chr11:45825400-45827200	Active TSS	Fetal Lung	lung
17	chr11:45825400-45827200	Active TSS	Lung	lung
18	chr11:45825400-45827200	Active TSS	Right Atrium	heart
19	chr11:45825400-45827200	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr11:45825400-45827200	Active TSS	HSMM	muscle
21	chr11:45825400-45827400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:45825400-45827400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:45825400-45827400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:45825400-45827400	Active TSS	Aorta	Aorta
25	chr11:45825400-45827400	Active TSS	Left Ventricle	heart
26	chr11:45825400-45827400	Active TSS	Ovary	ovary
27	chr11:45825400-45827400	Active TSS	Psoas Muscle	Psoas
28	chr11:45825400-45827400	Active TSS	Small Intestine	intestine
29	chr11:45825400-45827400	Active TSS	HSMMtube	muscle
30	chr11:45825400-45827400	Active TSS	NHLF	lung
31	chr11:45825400-45827600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:45825400-45827600	Bivalent/Poised TSS	HepG2	liver
33	chr11:45825400-45827800	Active TSS	A549	lung
34	chr11:45825400-45828600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr11:45825600-45827200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:45825600-45827200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:45825600-45827200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:45825600-45827200	Active TSS	Duodenum Mucosa	Duodenum
39	chr11:45825600-45827200	Active TSS	Placenta Amnion	Placenta Amnion
40	chr11:45825600-45827200	Active TSS	Stomach Mucosa	stomach
41	chr11:45825600-45827200	Active TSS	Thymus	Thymus
42	chr11:45825600-45827200	Active TSS	HMEC	breast
43	chr11:45825600-45827200	Active TSS	NHEK	skin
44	chr11:45825600-45827400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr11:45825600-45827400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:45825600-45827400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr11:45825600-45827400	Active TSS	Fetal Intestine Large	intestine
48	chr11:45825600-45827400	Active TSS	Fetal Intestine Small	intestine
49	chr11:45825600-45827400	Active TSS	Gastric	stomach
50	chr11:45825600-45827400	Active TSS	NHDF-Ad	bronchial

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