Variant report

Variant	rs10424446
Chromosome Location	chr19:44119489-44119490
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 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	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
4	chr19:44117733..44120449-chr19:44124139..44126144,3	MCF-7	breast:
5	chr19:44115073..44117118-chr19:44119102..44120772,2	K562	blood:
6	chr19:44100229..44102373-chr19:44118904..44121652,3	MCF-7	breast:
7	chr19:44117951..44120824-chr19:44143762..44146509,2	MCF-7	breast:
8	chr19:44100992..44104093-chr19:44119148..44120939,3	K562	blood:
9	chr19:44114067..44118275-chr19:44118353..44122607,6	MCF-7	breast:

No data

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10403862	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10404317	1.00[AMR][1000 genomes]
rs10408803	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10410931	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10419957	1.00[AMR][1000 genomes]
rs10424087	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3213238	1.00[AMR][1000 genomes]
rs3213304	1.00[AMR][1000 genomes]
rs3213320	1.00[AMR][1000 genomes]
rs3213324	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	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:117 , 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	chr19:44102400-44119600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:44102400-44122600	Weak transcription	NHDF-Ad	bronchial
6	chr19:44102600-44120600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:44102600-44121200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:44102600-44122600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:44102600-44122600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:44102800-44120000	Strong transcription	Fetal Stomach	stomach
11	chr19:44104400-44122800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:44104800-44123000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:44106000-44120000	Weak transcription	Right Atrium	heart
14	chr19:44106000-44122600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr19:44106200-44122800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr19:44110600-44119800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr19:44111600-44120400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:44112000-44122600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr19:44112200-44120800	Weak transcription	Fetal Brain Male	brain
20	chr19:44112600-44122600	Weak transcription	HUVEC	blood vessel
21	chr19:44115400-44119800	Weak transcription	K562	blood
22	chr19:44115800-44120200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:44116600-44120800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr19:44117000-44122600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr19:44117000-44122600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr19:44117000-44122600	Weak transcription	HSMM	muscle
27	chr19:44117000-44122800	Weak transcription	Colonic Mucosa	Colon
28	chr19:44117200-44120600	Weak transcription	Pancreas	Pancrea
29	chr19:44117200-44122600	Weak transcription	GM12878-XiMat	blood
30	chr19:44117200-44122600	Weak transcription	Hela-S3	cervix
31	chr19:44117200-44122800	Weak transcription	Primary B cells from cord blood	blood
32	chr19:44117200-44122800	Weak transcription	NHEK	skin
33	chr19:44117400-44122400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr19:44117400-44122400	Weak transcription	Right Ventricle	heart
35	chr19:44117400-44122600	Weak transcription	Brain Angular Gyrus	brain
36	chr19:44117400-44122600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr19:44117400-44122600	Weak transcription	HSMMtube	muscle
38	chr19:44117400-44123000	Weak transcription	NHLF	lung
39	chr19:44117600-44122600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:44117600-44122600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr19:44117600-44122600	Weak transcription	Brain Substantia Nigra	brain
42	chr19:44117800-44122800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:44118000-44122600	Weak transcription	NH-A	brain
44	chr19:44118200-44121400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr19:44118200-44122400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:44118400-44122400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr19:44118400-44122400	Weak transcription	HepG2	liver
48	chr19:44118400-44122400	Weak transcription	HMEC	breast
49	chr19:44118400-44122600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr19:44118400-44122600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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