Variant report

Variant	rs10408322
Chromosome Location	chr19:44145282-44145283
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44143944..44145694-chr19:44172387..44174161,2	MCF-7	breast:
2	chr19:44139192..44141813-chr19:44144492..44146172,2	MCF-7	breast:
3	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
4	chr19:44144909..44146958-chr19:44147965..44150519,2	K562	blood:
5	chr19:44122624..44125256-chr19:44141958..44145749,5	MCF-7	breast:
6	chr19:44143848..44146165-chr19:44171493..44174030,3	K562	blood:
7	chr19:44144072..44146959-chr19:44160581..44162332,2	MCF-7	breast:
8	chr19:44143406..44146165-chr19:44170107..44174030,3	K562	blood:
9	chr19:44098885..44105672-chr19:44139703..44145307,6	MCF-7	breast:
10	chr19:44098824..44101950-chr19:44142073..44145770,3	K562	blood:
11	chr19:44144010..44147763-chr19:44150755..44153654,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167378	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000011422	Chromatin interaction
ENSG00000105767	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000226763	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11083712	0.81[ASN][1000 genomes]
rs12461175	0.81[ASN][1000 genomes]
rs3746003	0.81[ASN][1000 genomes]
rs4803648	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6509099	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7252391	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73038867	0.81[ASN][1000 genomes]
rs73038875	0.91[ASN][1000 genomes]
rs8105647	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv3324628	chr19:44142737-44145285	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv579852	chr19:44142771-44149449	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44144400-44153000	Weak transcription	Aorta	Aorta
2	chr19:44144600-44162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:44144800-44145600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:44144800-44145600	Enhancers	Fetal Brain Male	brain
5	chr19:44144800-44147600	Weak transcription	HSMMtube	muscle
6	chr19:44144800-44150000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:44144800-44150400	Weak transcription	Liver	Liver
8	chr19:44144800-44152400	Weak transcription	Colonic Mucosa	Colon
9	chr19:44144800-44152400	Weak transcription	Dnd41	blood
10	chr19:44144800-44156000	Weak transcription	K562	blood
11	chr19:44144800-44156800	Weak transcription	Right Atrium	heart
12	chr19:44145000-44147600	Weak transcription	HepG2	liver
13	chr19:44145000-44148400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:44145000-44150400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:44145000-44150400	Weak transcription	A549	lung
16	chr19:44145000-44150400	Weak transcription	NH-A	brain
17	chr19:44145000-44151400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:44145000-44152000	Weak transcription	NHEK	skin
19	chr19:44145000-44152400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr19:44145000-44152400	Weak transcription	Gastric	stomach
21	chr19:44145000-44152400	Weak transcription	Left Ventricle	heart
22	chr19:44145000-44152400	Weak transcription	Ovary	ovary
23	chr19:44145000-44152400	Weak transcription	Right Ventricle	heart
24	chr19:44145000-44152400	Weak transcription	HMEC	breast
25	chr19:44145000-44152400	Weak transcription	NHLF	lung
26	chr19:44145000-44152600	Weak transcription	Hela-S3	cervix
27	chr19:44145000-44152800	Weak transcription	Spleen	Spleen
28	chr19:44145000-44155600	Weak transcription	Pancreas	Pancrea
29	chr19:44145000-44156000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:44145000-44156000	Weak transcription	Colon Smooth Muscle	Colon
31	chr19:44145000-44156200	Weak transcription	Brain Anterior Caudate	brain
32	chr19:44145000-44156200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr19:44145000-44156400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:44145000-44158400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:44145000-44167400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr19:44145000-44168000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr19:44145000-44171400	Weak transcription	Fetal Heart	heart
38	chr19:44145000-44171600	Weak transcription	Esophagus	oesophagus
39	chr19:44145200-44145400	Enhancers	Fetal Brain Female	brain
40	chr19:44145200-44146000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr19:44145200-44162200	Weak transcription	Brain Germinal Matrix	brain

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