Variant report

Variant	rs10404927
Chromosome Location	chr19:44670825-44670826
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44643597..44647343-chr19:44667648..44671629,7	K562	blood:
2	chr19:44668674..44671221-chr19:44672001..44674509,3	K562	blood:

Variant related genes	Relation type
ENSG00000167380	Chromatin interaction
ENSG00000263002	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10404357	1.00[EUR][1000 genomes]
rs10406116	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10415104	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416624	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417182	1.00[AFR][1000 genomes];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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16978966	1.00[AMR][1000 genomes]
rs28462219	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28818931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34493848	1.00[AMR][1000 genomes]
rs34863330	1.00[AMR][1000 genomes]
rs57369690	1.00[EUR][1000 genomes]
rs58935748	1.00[AMR][1000 genomes]
rs59897069	1.00[AMR][1000 genomes]
rs60852988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61185843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61233555	1.00[AMR][1000 genomes]
rs73553212	0.81[AFR][1000 genomes];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	1.00[AMR][1000 genomes]
rs73564027	1.00[EUR][1000 genomes]
rs73564035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567972	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73569942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113493	0.81[AFR][1000 genomes];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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44669600-44671000	Flanking Active TSS	Fetal Brain Female	brain
2	chr19:44670000-44671000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:44670000-44671200	Enhancers	Small Intestine	intestine
4	chr19:44670000-44672400	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr19:44670000-44677000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:44670200-44671000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:44670200-44671000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:44670200-44671000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:44670200-44672200	ZNF genes & repeats	Lung	lung
10	chr19:44670200-44672200	Strong transcription	K562	blood
11	chr19:44670200-44675600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:44670200-44676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:44670400-44671000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:44670400-44671000	Weak transcription	Primary B cells from cord blood	blood
15	chr19:44670400-44671000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:44670400-44671000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr19:44670400-44671000	Genic enhancers	Fetal Muscle Leg	muscle
18	chr19:44670400-44671000	Weak transcription	HMEC	breast
19	chr19:44670400-44671000	Enhancers	NHLF	lung
20	chr19:44670400-44671200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:44670400-44671200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:44670400-44671400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr19:44670400-44671400	Enhancers	Fetal Heart	heart
24	chr19:44670400-44671400	Weak transcription	Right Ventricle	heart
25	chr19:44670400-44671600	Weak transcription	Gastric	stomach
26	chr19:44670400-44671800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:44670400-44671800	Weak transcription	Right Atrium	heart
28	chr19:44670400-44671800	Weak transcription	Stomach Mucosa	stomach
29	chr19:44670400-44671800	Weak transcription	NHDF-Ad	bronchial
30	chr19:44670400-44672200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr19:44670400-44672400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
32	chr19:44670400-44672800	Weak transcription	HUVEC	blood vessel
33	chr19:44670400-44674600	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr19:44670400-44675600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr19:44670400-44675800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:44670400-44675800	Strong transcription	Rectal Smooth Muscle	rectum
37	chr19:44670400-44680200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:44670600-44671000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:44670600-44671000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:44670600-44671000	Genic enhancers	Brain Anterior Caudate	brain
41	chr19:44670600-44671000	Genic enhancers	Brain Hippocampus Middle	brain
42	chr19:44670600-44671000	Genic enhancers	Brain Substantia Nigra	brain
43	chr19:44670600-44671000	Weak transcription	Placenta	Placenta
44	chr19:44670600-44671000	Genic enhancers	Thymus	Thymus
45	chr19:44670600-44671000	Weak transcription	Spleen	Spleen
46	chr19:44670600-44671200	Enhancers	Brain Germinal Matrix	brain
47	chr19:44670600-44671400	Genic enhancers	Brain Angular Gyrus	brain
48	chr19:44670600-44671600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:44670600-44671600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:44670600-44671800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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