Variant report

Variant	rs73621543
Chromosome Location	chr19:38144517-38144518
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38129742..38132534-chr19:38142978..38144992,2	K562	blood:
2	chr19:37957663..37960695-chr19:38143642..38147199,3	MCF-7	breast:
3	chr19:38136998..38138524-chr19:38142889..38145003,2	MCF-7	breast:
4	chr19:38142585..38144601-chr19:38145165..38147382,2	K562	blood:
5	chr19:37960304..37962188-chr19:38144303..38146867,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171827	Chromatin interaction
ENSG00000120784	Chromatin interaction
ENSG00000196437	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs2081095	1.00[AMR][1000 genomes]
rs57172286	1.00[AMR][1000 genomes]
rs57558227	1.00[AMR][1000 genomes]
rs57653286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57676507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58181180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58356286	1.00[AMR][1000 genomes]
rs58889235	1.00[AMR][1000 genomes]
rs60155022	1.00[AMR][1000 genomes]
rs73617110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617177	1.00[AFR][1000 genomes]
rs73617179	1.00[AMR][1000 genomes]
rs73618903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73618986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73618993	1.00[AMR][1000 genomes]
rs73619001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621514	1.00[AFR][1000 genomes]
rs73621518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73631041	1.00[AMR][1000 genomes]
rs73631044	1.00[AMR][1000 genomes]
rs73631045	1.00[AMR][1000 genomes]
rs73631050	1.00[AMR][1000 genomes]
rs73631060	1.00[AMR][1000 genomes]
rs73631066	1.00[AMR][1000 genomes]
rs73631070	1.00[AMR][1000 genomes]
rs73631071	1.00[AMR][1000 genomes]
rs73631080	1.00[AMR][1000 genomes]
rs73631082	1.00[AMR][1000 genomes]
rs73631084	1.00[AMR][1000 genomes]
rs73631087	1.00[AMR][1000 genomes]
rs73632220	1.00[AMR][1000 genomes]
rs73632224	1.00[AMR][1000 genomes]
rs73632231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73632248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73632252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73632256	1.00[AFR][1000 genomes];1.00[AMR][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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38127200-38144600	Weak transcription	Hela-S3	cervix
2	chr19:38134200-38144600	Weak transcription	NHLF	lung
3	chr19:38134400-38145000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:38134400-38145000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:38138400-38145000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:38138600-38144600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:38138600-38144600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:38138600-38144800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr19:38138600-38144800	Weak transcription	Right Ventricle	heart
10	chr19:38138800-38144600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:38138800-38144600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:38138800-38144600	Weak transcription	Fetal Kidney	kidney
13	chr19:38138800-38144600	Weak transcription	HSMMtube	muscle
14	chr19:38138800-38144600	Weak transcription	K562	blood
15	chr19:38139000-38144600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:38139000-38144600	Weak transcription	Stomach Mucosa	stomach
17	chr19:38139000-38144600	Weak transcription	NHEK	skin
18	chr19:38139000-38144800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:38139000-38145200	Weak transcription	Placenta	Placenta
20	chr19:38139200-38144600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:38139200-38144600	Weak transcription	Brain Angular Gyrus	brain
22	chr19:38139200-38144600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr19:38139200-38144600	Weak transcription	Brain Substantia Nigra	brain
24	chr19:38139200-38144600	Weak transcription	Fetal Muscle Leg	muscle
25	chr19:38139200-38144600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr19:38139200-38144600	Weak transcription	Thymus	Thymus
27	chr19:38139200-38144800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:38139200-38144800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr19:38139200-38144800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr19:38139200-38144800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:38139200-38144800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr19:38139200-38144800	Weak transcription	Left Ventricle	heart
33	chr19:38139200-38145400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:38139400-38144600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr19:38139400-38144600	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:38139600-38145400	Weak transcription	Gastric	stomach
37	chr19:38139800-38144600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:38139800-38144600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr19:38139800-38144600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr19:38139800-38144800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:38140400-38144800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:38140600-38144600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr19:38140600-38144600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:38140600-38144600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr19:38140600-38144600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:38140800-38144600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr19:38140800-38144600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:38140800-38144800	Weak transcription	Ovary	ovary
49	chr19:38141000-38144600	Weak transcription	NHDF-Ad	bronchial
50	chr19:38141200-38144800	Weak transcription	Primary T cells from cord blood	blood

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