Variant report

Variant	rs61676505
Chromosome Location	chr19:44258495-44258496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247241764..247242532-chr19:44258259..44259219,2	Hela-S3	cervix:
2	chr19:44122148..44124570-chr19:44257332..44259810,2	K562	blood:
3	chr19:44256245..44259869-chr19:44284477..44291035,7	MCF-7	breast:
4	chr15:67357528..67358506-chr19:44258181..44259050,2	Hela-S3	cervix:
5	chr19:44256990..44258617-chr19:44309016..44311766,2	K562	blood:
6	chr19:44170992..44175159-chr19:44257509..44260839,9	K562	blood:
7	chr19:44256760..44265122-chr19:44281375..44290996,18	K562	blood:
8	chr19:44258057..44261358-chr19:44282388..44285287,3	MCF-7	breast:
9	chr19:44256902..44259660-chr19:44715792..44718086,2	K562	blood:
10	chr19:44171504..44174584-chr19:44258221..44261397,4	MCF-7	breast:
11	chr19:44258464..44259462-chr6:27113932..27114741,2	Hela-S3	cervix:
12	chr19:44232159..44237751-chr19:44257333..44261887,5	K562	blood:
13	chr19:44172767..44174988-chr19:44257416..44259615,3	MCF-7	breast:
14	chr19:44257672..44259708-chr19:44329404..44331468,2	K562	blood:
15	chr19:33181580..33184048-chr19:44257944..44260418,2	K562	blood:
16	chr19:44258125..44259814-chr19:45145810..45147652,2	MCF-7	breast:
17	chr19:44172674..44174816-chr19:44255771..44260668,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213965	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000011422	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000131115	Chromatin interaction
ENSG00000104783	Chromatin interaction
ENSG00000166949	Chromatin interaction
ENSG00000073008	Chromatin interaction
ENSG00000167637	Chromatin interaction
ENSG00000159871	Chromatin interaction
ENSG00000135747	Chromatin interaction
ENSG00000105771	Chromatin interaction
ENSG00000267475	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10404922	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10416580	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10418355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10426756	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28544228	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4803656	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59204851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59800457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565079	0.81[AFR][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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 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	chr19:44257000-44258600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:44257200-44258600	Flanking Active TSS	Brain Cingulate Gyrus	brain
3	chr19:44257400-44258600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:44257400-44258600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr19:44257400-44258600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr19:44257400-44259800	Active TSS	NHDF-Ad	bronchial
7	chr19:44257400-44260200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr19:44257600-44258600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:44257600-44258600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr19:44257600-44259400	Active TSS	Rectal Smooth Muscle	rectum
11	chr19:44257600-44260200	Active TSS	A549	lung
12	chr19:44257800-44258600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr19:44257800-44258600	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr19:44257800-44258600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr19:44257800-44258600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr19:44257800-44258600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr19:44257800-44258600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:44257800-44258600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:44257800-44258600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:44257800-44258600	Flanking Active TSS	Fetal Stomach	stomach
21	chr19:44257800-44258600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr19:44257800-44259400	Active TSS	Right Ventricle	heart
23	chr19:44257800-44259800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:44257800-44260200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr19:44257800-44260200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:44257800-44260200	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr19:44257800-44260200	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr19:44257800-44260200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:44257800-44260400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr19:44257800-44260600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:44258000-44258600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:44258000-44258600	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr19:44258000-44258600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr19:44258000-44258600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr19:44258000-44258600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr19:44258000-44258600	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr19:44258000-44258600	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr19:44258000-44258600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr19:44258000-44258600	Flanking Active TSS	Fetal Thymus	thymus
40	chr19:44258000-44258800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr19:44258000-44258800	Active TSS	Right Atrium	heart
42	chr19:44258000-44259400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:44258000-44259400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:44258000-44259400	Active TSS	Hela-S3	cervix
45	chr19:44258000-44259400	Active TSS	HMEC	breast
46	chr19:44258000-44259600	Active TSS	Small Intestine	intestine
47	chr19:44258000-44259800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr19:44258000-44259800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:44258000-44259800	Active TSS	Psoas Muscle	Psoas
50	chr19:44258000-44260000	Active TSS	H1 Cell Line	embryonic stem cell

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