Variant report

Variant	rs2168778
Chromosome Location	chr19:44631219-44631220
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	chr19:44623970..44625946-chr19:44630688..44632279,2	K562	blood:

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

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

rs_ID	r²[population]
rs10406335	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10408901	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10410306	0.89[EUR][1000 genomes]
rs10413195	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10413511	0.91[ASN][1000 genomes]
rs10420143	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10853771	0.99[ASN][1000 genomes]
rs1236712	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1236715	0.95[ASN][1000 genomes]
rs1236716	0.95[ASN][1000 genomes]
rs2284980	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284981	0.99[ASN][1000 genomes]
rs2356750	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28446946	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28539456	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4802206	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4802208	0.99[ASN][1000 genomes]
rs7250004	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7250005	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7251868	0.98[AFR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7253485	0.99[ASN][1000 genomes]
rs7508149	0.86[EUR][1000 genomes]
rs7508762	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099869	0.97[ASN][1000 genomes]
rs8104573	0.89[EUR][1000 genomes]
rs8105860	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8113750	0.88[EUR][1000 genomes]
rs9304638	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44618200-44635000	Weak transcription	Stomach Mucosa	stomach
2	chr19:44618600-44631400	Weak transcription	NHEK	skin
3	chr19:44618600-44635000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:44618800-44635000	Weak transcription	HMEC	breast
5	chr19:44619000-44633600	Weak transcription	HUVEC	blood vessel
6	chr19:44619600-44633200	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr19:44619600-44637200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr19:44619600-44638600	ZNF genes & repeats	Liver	Liver
9	chr19:44619800-44635000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:44620000-44634600	Strong transcription	Brain Hippocampus Middle	brain
11	chr19:44620000-44635400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:44620400-44635000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:44620400-44635000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:44622800-44636800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:44622800-44645000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:44623400-44637200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr19:44623400-44637800	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr19:44623400-44638800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:44623600-44633600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:44623800-44635000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:44623800-44640600	Weak transcription	HepG2	liver
22	chr19:44624000-44632000	Weak transcription	Fetal Brain Male	brain
23	chr19:44624000-44635000	Weak transcription	Fetal Heart	heart
24	chr19:44624200-44632200	Weak transcription	NH-A	brain
25	chr19:44624200-44637400	ZNF genes & repeats	Fetal Lung	lung
26	chr19:44624800-44635800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr19:44625000-44632000	Weak transcription	NHDF-Ad	bronchial
28	chr19:44625400-44639000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr19:44626000-44637000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
30	chr19:44626200-44636000	Strong transcription	Brain Angular Gyrus	brain
31	chr19:44626400-44634600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
32	chr19:44626800-44636600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr19:44627000-44634600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr19:44627600-44636000	Strong transcription	Brain Anterior Caudate	brain
35	chr19:44627800-44632200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:44628000-44635200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:44628600-44632200	Strong transcription	Primary B cells from cord blood	blood
38	chr19:44628600-44632400	Strong transcription	Primary T cells from cord blood	blood
39	chr19:44628600-44633400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:44628600-44636400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr19:44628800-44635800	Strong transcription	Brain Cingulate Gyrus	brain
42	chr19:44628800-44636000	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr19:44628800-44636800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
44	chr19:44628800-44636800	Strong transcription	Dnd41	blood
45	chr19:44629000-44631800	Strong transcription	Right Ventricle	heart
46	chr19:44629000-44632800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:44629000-44634000	ZNF genes & repeats	Colon Smooth Muscle	Colon
48	chr19:44629200-44632200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr19:44629200-44632200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr19:44629200-44635000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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