Variant report

Variant	rs60814129
Chromosome Location	chr19:44110643-44110644
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44098915..44103795-chr19:44109148..44114101,10	K562	blood:
2	chr19:44109603..44114689-chr19:44115292..44119073,6	K562	blood:
3	chr19:44109386..44112370-chr19:44120247..44124232,4	MCF-7	breast:
4	chr19:44109747..44112364-chr19:44115542..44118164,2	MCF-7	breast:
5	chr19:44099425..44103401-chr19:44107889..44111308,5	MCF-7	breast:
6	chr19:44109506..44112064-chr19:44123661..44125451,2	K562	blood:
7	chr19:44105250..44107981-chr19:44110094..44113502,4	K562	blood:
8	chr19:44110089..44111972-chr19:44120220..44123168,2	K562	blood:
9	chr19:44100502..44102704-chr19:44109148..44111826,4	K562	blood:
10	chr19:44099488..44102037-chr19:44109521..44112371,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167378	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000226763	Chromatin interaction
ENSG00000131116	Chromatin interaction

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

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

rs_ID	r²[population]
rs1799780	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2240931	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25489	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3213278	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3213287	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3213371	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3213385	0.83[AMR][1000 genomes]
rs3213395	0.83[AMR][1000 genomes]
rs4251949	0.87[EUR][1000 genomes]
rs4251952	0.90[EUR][1000 genomes]
rs4251953	0.90[EUR][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44101600-44112000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:44101800-44111600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:44101800-44123200	Weak transcription	Small Intestine	intestine
4	chr19:44102000-44122600	Weak transcription	Fetal Kidney	kidney
5	chr19:44102200-44111000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:44102200-44111200	Strong transcription	Fetal Muscle Leg	muscle
7	chr19:44102200-44113600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:44102200-44114200	Weak transcription	NH-A	brain
9	chr19:44102200-44114600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:44102200-44122600	Weak transcription	Psoas Muscle	Psoas
11	chr19:44102400-44110800	Weak transcription	Colon Smooth Muscle	Colon
12	chr19:44102400-44119600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:44102400-44122600	Weak transcription	NHDF-Ad	bronchial
14	chr19:44102600-44115800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr19:44102600-44116200	Weak transcription	Hela-S3	cervix
16	chr19:44102600-44120600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:44102600-44121200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:44102600-44122600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr19:44102600-44122600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr19:44102800-44120000	Strong transcription	Fetal Stomach	stomach
21	chr19:44103000-44111200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr19:44103200-44115000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:44104000-44111000	Weak transcription	HUVEC	blood vessel
24	chr19:44104000-44111800	Weak transcription	Aorta	Aorta
25	chr19:44104000-44114000	Weak transcription	NHLF	lung
26	chr19:44104000-44116000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr19:44104000-44116200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:44104400-44122800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr19:44104600-44111000	Weak transcription	Osteobl	bone
30	chr19:44104600-44111600	Weak transcription	Colonic Mucosa	Colon
31	chr19:44104600-44111800	Weak transcription	Esophagus	oesophagus
32	chr19:44104600-44115800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:44104600-44116200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr19:44104600-44116400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:44104800-44111000	Weak transcription	Right Ventricle	heart
36	chr19:44104800-44111000	Weak transcription	HepG2	liver
37	chr19:44104800-44123000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr19:44105200-44115800	Weak transcription	HSMM	muscle
39	chr19:44105600-44111000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:44105600-44112200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr19:44105800-44116200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:44106000-44111200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:44106000-44120000	Weak transcription	Right Atrium	heart
44	chr19:44106000-44122600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:44106200-44110800	Weak transcription	Fetal Heart	heart
46	chr19:44106200-44116000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:44106200-44122800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr19:44106400-44116000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr19:44106600-44111000	Weak transcription	Gastric	stomach
50	chr19:44106800-44111000	Weak transcription	Duodenum Mucosa	Duodenum

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