Variant report

Variant	rs45484796
Chromosome Location	chr10:22982195-22982196
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	NFIC	chr10:22982149-22982620	GM12878	blood:	n/a	n/a
2	GATA3	chr10:22982194-22982989	SK-N-SH	brain:	n/a	chr10:22982378-22982388 chr10:22982875-22982882 chr10:22982875-22982884
3	GATA1	chr10:22982192-22983014	PBDE	blood:	n/a	chr10:22982378-22982388 chr10:22982875-22982882 chr10:22982875-22982884

No.	Distal block	Cell Line	Cell type
1	chr10:22982152..22984187-chr10:23002359..23004163,2	K562	blood:
2	chr10:22903368..22907136-chr10:22980812..22983747,3	K562	blood:
3	chr10:22878466..22880644-chr10:22981543..22983753,2	K562	blood:

Variant related genes	Relation type
PIP4K2A	TF binding region
ENSG00000150867	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10159697	0.84[ASN][1000 genomes]
rs10159847	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10508651	0.82[ASN][1000 genomes]
rs11013104	0.93[EUR][1000 genomes]
rs11013105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11013106	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12098721	0.82[ASN][1000 genomes]
rs12260163	0.84[ASN][1000 genomes]
rs16922578	0.84[ASN][1000 genomes]
rs16922580	0.84[ASN][1000 genomes]
rs16922586	0.84[ASN][1000 genomes]
rs17526135	0.82[ASN][1000 genomes]
rs35355312	0.84[ASN][1000 genomes]
rs45496900	1.00[ASN][1000 genomes]
rs45520040	0.84[ASN][1000 genomes]
rs45620939	1.00[ASN][1000 genomes]
rs58727843	0.81[EUR][1000 genomes]
rs61228116	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482227	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7071198	0.84[ASN][1000 genomes]
rs7090286	1.00[ASN][1000 genomes]
rs7100490	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7915780	0.84[ASN][1000 genomes]
rs7919243	0.84[ASN][1000 genomes]
rs997650	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];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	esv1830947	chr10:22881196-23004381	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv831809	chr10:22918101-23069676	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22970600-22989000	Weak transcription	Esophagus	oesophagus
2	chr10:22972600-22983600	Enhancers	Brain Substantia Nigra	brain
3	chr10:22972600-23000200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr10:22972800-22990000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:22972800-22999400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr10:22973000-22988200	Weak transcription	Aorta	Aorta
7	chr10:22973000-22990000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:22973000-22997600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:22973000-22999200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr10:22973200-22987400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr10:22973200-22989400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr10:22973800-22985800	Weak transcription	Fetal Heart	heart
13	chr10:22974000-22985400	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:22974600-22982600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr10:22974800-22988200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr10:22974800-22988400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr10:22975000-22982600	Weak transcription	Gastric	stomach
18	chr10:22975600-23001200	Weak transcription	Colonic Mucosa	Colon
19	chr10:22976000-22984000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr10:22976000-22984400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:22976000-22989000	Weak transcription	Thymus	Thymus
22	chr10:22977200-22998400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:22977600-22999200	Weak transcription	Dnd41	blood
24	chr10:22978200-22988200	Weak transcription	Left Ventricle	heart
25	chr10:22978600-22983000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr10:22978600-22983400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr10:22978800-22982400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr10:22979400-22983400	Enhancers	Brain Angular Gyrus	brain
29	chr10:22979400-22984800	Enhancers	Brain Hippocampus Middle	brain
30	chr10:22979800-22983200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:22979800-22983400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr10:22979800-22983600	Enhancers	Primary B cells from peripheral blood	blood
33	chr10:22980200-22982200	Weak transcription	Osteobl	bone
34	chr10:22980200-22982400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:22980200-22982400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:22980200-22982600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:22980200-22983000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr10:22980200-22983400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr10:22980200-22986800	Weak transcription	Adipose Nuclei	Adipose
40	chr10:22980200-22987800	Weak transcription	Fetal Lung	lung
41	chr10:22980200-22988200	Weak transcription	Pancreas	Pancrea
42	chr10:22980200-22988200	Weak transcription	Spleen	Spleen
43	chr10:22980200-22993600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr10:22980400-22982400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:22980400-22982400	Weak transcription	HMEC	breast
46	chr10:22980400-22982600	Weak transcription	Stomach Mucosa	stomach
47	chr10:22980400-22983000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr10:22980400-22999000	Weak transcription	Lung	lung
49	chr10:22980400-23000800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:22980600-22982800	Weak transcription	Primary B cells from cord blood	blood

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