Variant report

Variant	rs60852988
Chromosome Location	chr19:44652143-44652144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44644128..44646126-chr19:44650010..44652785,2	K562	blood:

Variant related genes	Relation type
ENSG00000263002	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10404927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10415104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879265	1.00[AMR][1000 genomes]
rs13345528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16978966	1.00[AMR][1000 genomes]
rs28462219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28818931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34493848	1.00[AMR][1000 genomes]
rs34863330	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57369690	1.00[EUR][1000 genomes]
rs58935748	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59897069	1.00[AMR][1000 genomes]
rs61185843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61233555	1.00[AMR][1000 genomes]
rs73553212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553253	1.00[EUR][1000 genomes]
rs73555119	1.00[EUR][1000 genomes]
rs73556274	1.00[AMR][1000 genomes]
rs73558239	1.00[EUR][1000 genomes]
rs73558248	1.00[AMR][1000 genomes]
rs73558286	1.00[AMR][1000 genomes]
rs73558298	1.00[AMR][1000 genomes]
rs73558301	1.00[AMR][1000 genomes]
rs73562181	1.00[AMR][1000 genomes]
rs73562187	1.00[AMR][1000 genomes]
rs73562192	1.00[AMR][1000 genomes]
rs73562196	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564027	1.00[EUR][1000 genomes]
rs73564035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73569942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113493	1.00[AMR][1000 genomes];1.00[EUR][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	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44646600-44652800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:44646600-44653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:44646800-44652200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:44646800-44652200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr19:44646800-44652200	Weak transcription	Small Intestine	intestine
6	chr19:44646800-44652800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:44646800-44653800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr19:44646800-44656600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:44646800-44657800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:44646800-44660200	Weak transcription	Stomach Mucosa	stomach
11	chr19:44647000-44652200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:44647000-44652200	Weak transcription	Brain Angular Gyrus	brain
13	chr19:44647000-44652200	Weak transcription	Fetal Kidney	kidney
14	chr19:44647000-44652200	Weak transcription	Fetal Lung	lung
15	chr19:44647000-44652400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:44647000-44652400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:44647000-44654200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:44647000-44655600	Weak transcription	HUVEC	blood vessel
19	chr19:44647000-44660200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:44647000-44660200	Weak transcription	Hela-S3	cervix
21	chr19:44647000-44660400	Weak transcription	Fetal Heart	heart
22	chr19:44647400-44652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr19:44647600-44655800	Weak transcription	Fetal Brain Male	brain
24	chr19:44647800-44668400	ZNF genes & repeats	Liver	Liver
25	chr19:44648200-44652200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr19:44648200-44652400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr19:44648200-44656400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr19:44648200-44657600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:44648200-44658200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:44648200-44660000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:44648400-44652200	Strong transcription	Adipose Nuclei	Adipose
32	chr19:44648400-44652200	Strong transcription	Ovary	ovary
33	chr19:44648400-44654600	Strong transcription	Aorta	Aorta
34	chr19:44648400-44654600	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:44648400-44656000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr19:44648400-44656000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr19:44648400-44656000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr19:44648400-44656400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:44648400-44657200	Strong transcription	Brain Germinal Matrix	brain
40	chr19:44648400-44658000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:44648400-44658800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:44648400-44658800	Strong transcription	Fetal Muscle Leg	muscle
43	chr19:44648400-44659400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:44648400-44660000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:44648400-44660000	Strong transcription	Placenta	Placenta
46	chr19:44648400-44660400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:44648400-44663200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr19:44648600-44655800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:44648600-44656200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr19:44648600-44656600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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