Variant report

Variant	rs1778316
Chromosome Location	chr10:22901799-22901800
allele	G/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	POLR2A	chr10:22901745-22901936	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22896470..22900066-chr10:22900666..22904844,7	K562	blood:
2	chr10:22887541..22890233-chr10:22900677..22902748,2	K562	blood:
3	chr10:22898511..22900612-chr10:22900841..22903222,2	MCF-7	breast:
4	chr10:22901103..22903031-chr10:22903361..22905909,2	MCF-7	breast:

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

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11013054	0.87[ASN][1000 genomes]
rs1409397	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1409398	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1750750	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1750754	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1750755	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1750756	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1750757	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1750758	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1778303	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1778304	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1778331	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1778353	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1778355	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256542	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2364116	0.85[ASN][1000 genomes]
rs2559526	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2559527	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2559528	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2765994	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765997	0.95[EUR][1000 genomes]
rs2765998	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2913110	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7071450	0.84[ASN][1000 genomes]
rs7099314	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs754822	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943194	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs943195	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][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	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22844200-22904800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:22858200-22904000	Weak transcription	Colonic Mucosa	Colon
3	chr10:22862400-22902000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:22880000-22906800	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:22887200-22902400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr10:22888800-22905000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:22889400-22904400	Weak transcription	Hela-S3	cervix
8	chr10:22891000-22904800	Weak transcription	Right Ventricle	heart
9	chr10:22891200-22904800	Weak transcription	NHLF	lung
10	chr10:22893600-22902000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr10:22894000-22902600	Weak transcription	Right Atrium	heart
12	chr10:22894000-22906600	Weak transcription	Ovary	ovary
13	chr10:22894200-22904600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr10:22894600-22903000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:22894600-22904400	Weak transcription	NHDF-Ad	bronchial
16	chr10:22894600-22904600	Weak transcription	NHEK	skin
17	chr10:22894600-22905000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:22894800-22904600	Weak transcription	Adipose Nuclei	Adipose
19	chr10:22894800-22913000	Weak transcription	Fetal Kidney	kidney
20	chr10:22895400-22904600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:22895600-22902000	Weak transcription	Pancreas	Pancrea
22	chr10:22895600-22902200	Weak transcription	Placenta	Placenta
23	chr10:22895600-22906000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:22895800-22904600	Weak transcription	HUVEC	blood vessel
25	chr10:22895800-22904800	Weak transcription	NH-A	brain
26	chr10:22896000-22902600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr10:22896400-22904000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr10:22896400-22904600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr10:22896400-22904600	Weak transcription	A549	lung
30	chr10:22896400-22904800	Weak transcription	Osteobl	bone
31	chr10:22896600-22902200	Weak transcription	Esophagus	oesophagus
32	chr10:22896600-22904600	Weak transcription	HSMM	muscle
33	chr10:22897200-22907000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr10:22897400-22901800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:22897400-22904800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:22897600-22904800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr10:22897800-22904000	Weak transcription	Left Ventricle	heart
38	chr10:22897800-22904600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr10:22898000-22904000	Weak transcription	Stomach Mucosa	stomach
40	chr10:22898000-22904400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:22898000-22904800	Enhancers	Brain Substantia Nigra	brain
42	chr10:22898000-22904800	Weak transcription	Fetal Lung	lung
43	chr10:22898000-22904800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr10:22898000-22904800	Weak transcription	Fetal Muscle Leg	muscle
45	chr10:22898200-22902000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr10:22898200-22904600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:22898200-22904800	Weak transcription	Fetal Intestine Large	intestine
48	chr10:22898200-22906400	Weak transcription	HSMMtube	muscle
49	chr10:22898200-22908000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr10:22898400-22902000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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