Variant report

Variant	rs73617175
Chromosome Location	chr19:38084843-38084844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr19:38084749-38086755	Hela-S3	cervix:	n/a	n/a
2	KAP1	chr19:38084775-38086589	HEK293	kidney:	n/a	n/a
3	SREBP1	chr19:38084608-38086685	GM12878	blood:	n/a	n/a
4	MXI1	chr19:38084687-38086566	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr19:38084639-38086744	IMR90	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38077508..38079095-chr19:38083626..38085233,2	K562	blood:
2	chr19:38084603..38087452-chr19:38269351..38271925,3	MCF-7	breast:
3	chr19:38083796..38085329-chr19:38149997..38151871,2	MCF-7	breast:
4	chr19:38083812..38086216-chr19:38209948..38211806,2	MCF-7	breast:
5	chr19:38083351..38084930-chr19:38145695..38147583,2	K562	blood:
6	chr19:38083338..38085691-chr19:38270478..38272116,2	K562	blood:
7	chr19:38078147..38079812-chr19:38083382..38085459,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF540	TF binding region
ENSG00000198182	Chromatin interaction
ENSG00000189144	Chromatin interaction
ENSG00000267422	Chromatin interaction
ENSG00000120784	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

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]
rs58874386	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]
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]
rs73621543	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]
rs73625109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629665	1.00[AMR][1000 genomes]
rs73629668	1.00[AMR][1000 genomes]
rs73629679	1.00[AMR][1000 genomes]
rs73631014	1.00[AMR][1000 genomes]
rs73631027	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38083600-38085400	ZNF genes & repeats	A549	lung
2	chr19:38084400-38085000	Enhancers	Left Ventricle	heart
3	chr19:38084400-38085000	Enhancers	Spleen	Spleen
4	chr19:38084400-38085200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:38084400-38085200	Flanking Active TSS	Dnd41	blood
6	chr19:38084400-38085400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr19:38084400-38086000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr19:38084400-38086200	Active TSS	NHEK	skin
9	chr19:38084400-38086400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:38084400-38086400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:38084600-38085000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:38084600-38085000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr19:38084600-38085000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr19:38084600-38085000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:38084600-38085000	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr19:38084600-38085000	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr19:38084600-38085000	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr19:38084600-38085000	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr19:38084600-38085000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr19:38084600-38085000	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr19:38084600-38085000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr19:38084600-38085000	Flanking Active TSS	Placenta	Placenta
23	chr19:38084600-38085000	Enhancers	Gastric	stomach
24	chr19:38084600-38085000	Flanking Active TSS	Psoas Muscle	Psoas
25	chr19:38084600-38085000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr19:38084600-38085000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr19:38084600-38085000	Enhancers	Small Intestine	intestine
28	chr19:38084600-38085000	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr19:38084600-38085200	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr19:38084600-38085200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr19:38084600-38085200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr19:38084600-38085200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr19:38084600-38085200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr19:38084600-38085200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:38084600-38085200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:38084600-38085200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:38084600-38085200	Flanking Active TSS	Liver	Liver
38	chr19:38084600-38085200	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr19:38084600-38085200	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr19:38084600-38085200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr19:38084600-38085200	Flanking Active TSS	Fetal Brain Female	brain
42	chr19:38084600-38085200	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr19:38084600-38085200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr19:38084600-38085200	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr19:38084600-38085200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr19:38084600-38085200	Flanking Active TSS	GM12878-XiMat	blood
47	chr19:38084600-38085200	Flanking Active TSS	Hela-S3	cervix
48	chr19:38084600-38085400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr19:38084600-38085400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr19:38084600-38085400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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