Variant report

Variant	rs12289424
Chromosome Location	chr11:63376376-63376377
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	RUNX3	chr11:63376351-63376806	GM12878	blood:	n/a	n/a
2	MXI1	chr11:63376329-63376379	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63374200..63376653-chr11:63448488..63450702,2	K562	blood:
2	chr11:63374913..63376548-chr11:63380673..63383197,2	K562	blood:

Variant related genes	Relation type
PLA2G16	TF binding region
ENSG00000133318	Chromatin interaction
ENSG00000176485	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11231531	0.82[AFR][1000 genomes]
rs11231532	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs12282263	0.82[AFR][1000 genomes]
rs12289689	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294233	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158439	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804538	0.82[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63343000-63376600	Weak transcription	Colonic Mucosa	Colon
2	chr11:63350200-63377000	Weak transcription	Hela-S3	cervix
3	chr11:63356800-63381000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:63357600-63380400	Weak transcription	NHLF	lung
5	chr11:63358800-63377000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:63361200-63376800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:63362000-63378000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:63363000-63377000	Weak transcription	Esophagus	oesophagus
9	chr11:63366400-63376600	Weak transcription	Lung	lung
10	chr11:63367000-63377000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:63367800-63377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:63370000-63376600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:63371000-63376400	Weak transcription	Fetal Intestine Small	intestine
14	chr11:63371000-63376600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:63371000-63376800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:63371000-63376800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:63371000-63377000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:63371000-63380400	Weak transcription	Aorta	Aorta
19	chr11:63371400-63376600	Enhancers	Brain Hippocampus Middle	brain
20	chr11:63371600-63376600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:63371600-63376800	Weak transcription	Left Ventricle	heart
22	chr11:63372600-63376800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:63372800-63376600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:63373200-63376400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:63374000-63378200	Enhancers	Placenta	Placenta
26	chr11:63374400-63376400	Weak transcription	Right Ventricle	heart
27	chr11:63374600-63380200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:63374800-63376600	Enhancers	Adipose Nuclei	Adipose
29	chr11:63374800-63376800	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:63374800-63377000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:63374800-63377000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:63374800-63377000	Weak transcription	Gastric	stomach
33	chr11:63374800-63378400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:63374800-63380400	Weak transcription	K562	blood
35	chr11:63375000-63378600	Enhancers	NH-A	brain
36	chr11:63375400-63376800	Enhancers	Ovary	ovary
37	chr11:63375600-63376400	Enhancers	Brain Cingulate Gyrus	brain
38	chr11:63375600-63377600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:63375600-63378400	Enhancers	HMEC	breast
40	chr11:63375600-63378400	Enhancers	HSMM	muscle
41	chr11:63375800-63376400	Enhancers	Brain Substantia Nigra	brain
42	chr11:63375800-63376600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:63375800-63376600	Flanking Active TSS	Osteobl	bone
44	chr11:63375800-63376800	Enhancers	Liver	Liver
45	chr11:63375800-63376800	Enhancers	Brain Angular Gyrus	brain
46	chr11:63375800-63376800	Enhancers	Brain Anterior Caudate	brain
47	chr11:63375800-63376800	Enhancers	HepG2	liver
48	chr11:63375800-63377000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:63375800-63377600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr11:63375800-63377600	Enhancers	HUES6 Cell Line	embryonic stem cell

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