Variant report

Variant	rs73556581
Chromosome Location	chr19:44120879-44120880
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44097500..44104541-chr19:44116930..44130620,31	K562	blood:
2	chr19:44100742..44103306-chr19:44119302..44121668,2	MCF-7	breast:
3	chr19:44120391..44122846-chr19:44145838..44147515,2	MCF-7	breast:
4	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
5	chr19:44100229..44102373-chr19:44118904..44121652,3	MCF-7	breast:
6	chr19:44100992..44104093-chr19:44119148..44120939,3	K562	blood:
7	chr19:44110089..44111972-chr19:44120220..44123168,2	K562	blood:
8	chr19:44114067..44118275-chr19:44118353..44122607,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226763	Chromatin interaction
ENSG00000105767	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000124444	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs168310	1.00[ASN][1000 genomes]
rs2854497	1.00[ASN][1000 genomes]
rs3213316	1.00[ASN][1000 genomes]
rs3213321	1.00[ASN][1000 genomes]
rs3213322	1.00[ASN][1000 genomes]
rs3213348	1.00[ASN][1000 genomes]
rs34439296	1.00[ASN][1000 genomes]
rs34471331	1.00[ASN][1000 genomes]
rs346049	1.00[ASN][1000 genomes]
rs399300	1.00[ASN][1000 genomes]
rs4251895	1.00[ASN][1000 genomes]
rs4251915	1.00[ASN][1000 genomes]
rs56204051	1.00[ASN][1000 genomes]
rs57817750	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60175550	1.00[ASN][1000 genomes]
rs60273962	1.00[ASN][1000 genomes]
rs60889018	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7257640	1.00[ASN][1000 genomes]
rs73554667	1.00[ASN][1000 genomes]
rs73554679	1.00[ASN][1000 genomes]
rs73554696	1.00[ASN][1000 genomes]
rs73556565	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104645	1.00[ASN][1000 genomes]
rs8110767	1.00[ASN][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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44101800-44123200	Weak transcription	Small Intestine	intestine
2	chr19:44102000-44122600	Weak transcription	Fetal Kidney	kidney
3	chr19:44102200-44122600	Weak transcription	Psoas Muscle	Psoas
4	chr19:44102400-44122600	Weak transcription	NHDF-Ad	bronchial
5	chr19:44102600-44121200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:44102600-44122600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr19:44102600-44122600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:44104400-44122800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:44104800-44123000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:44106000-44122600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:44106200-44122800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr19:44112000-44122600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr19:44112600-44122600	Weak transcription	HUVEC	blood vessel
14	chr19:44117000-44122600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr19:44117000-44122600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr19:44117000-44122600	Weak transcription	HSMM	muscle
17	chr19:44117000-44122800	Weak transcription	Colonic Mucosa	Colon
18	chr19:44117200-44122600	Weak transcription	GM12878-XiMat	blood
19	chr19:44117200-44122600	Weak transcription	Hela-S3	cervix
20	chr19:44117200-44122800	Weak transcription	Primary B cells from cord blood	blood
21	chr19:44117200-44122800	Weak transcription	NHEK	skin
22	chr19:44117400-44122400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr19:44117400-44122400	Weak transcription	Right Ventricle	heart
24	chr19:44117400-44122600	Weak transcription	Brain Angular Gyrus	brain
25	chr19:44117400-44122600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr19:44117400-44122600	Weak transcription	HSMMtube	muscle
27	chr19:44117400-44123000	Weak transcription	NHLF	lung
28	chr19:44117600-44122600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:44117600-44122600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:44117600-44122600	Weak transcription	Brain Substantia Nigra	brain
31	chr19:44117800-44122800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr19:44118000-44122600	Weak transcription	NH-A	brain
33	chr19:44118200-44121400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:44118200-44122400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:44118400-44122400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:44118400-44122400	Weak transcription	HepG2	liver
37	chr19:44118400-44122400	Weak transcription	HMEC	breast
38	chr19:44118400-44122600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr19:44118400-44122600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:44118400-44122600	Weak transcription	Adipose Nuclei	Adipose
41	chr19:44118400-44122600	Weak transcription	Liver	Liver
42	chr19:44118400-44122600	Weak transcription	Fetal Lung	lung
43	chr19:44118400-44122800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr19:44118400-44122800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:44118400-44122800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr19:44118400-44122800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr19:44118400-44123000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr19:44118600-44121200	Weak transcription	Thymus	Thymus
49	chr19:44118600-44122400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:44118600-44122400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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