Variant report

Variant	rs6509099
Chromosome Location	chr19:44150012-44150013
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44144909..44146958-chr19:44147965..44150519,2	K562	blood:
2	chr19:44145301..44149219-chr19:44149901..44154485,5	K562	blood:
3	chr19:44082737..44084299-chr19:44149174..44151871,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10408322	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4803648	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7252391	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8105647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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:89 , 50 per page) page: 1 2

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	chr19:44144800-44150400	Weak transcription	Liver	Liver
4	chr19:44144800-44152400	Weak transcription	Colonic Mucosa	Colon
5	chr19:44144800-44152400	Weak transcription	Dnd41	blood
6	chr19:44144800-44156000	Weak transcription	K562	blood
7	chr19:44144800-44156800	Weak transcription	Right Atrium	heart
8	chr19:44145000-44150400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:44145000-44150400	Weak transcription	A549	lung
10	chr19:44145000-44150400	Weak transcription	NH-A	brain
11	chr19:44145000-44151400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:44145000-44152000	Weak transcription	NHEK	skin
13	chr19:44145000-44152400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:44145000-44152400	Weak transcription	Gastric	stomach
15	chr19:44145000-44152400	Weak transcription	Left Ventricle	heart
16	chr19:44145000-44152400	Weak transcription	Ovary	ovary
17	chr19:44145000-44152400	Weak transcription	Right Ventricle	heart
18	chr19:44145000-44152400	Weak transcription	HMEC	breast
19	chr19:44145000-44152400	Weak transcription	NHLF	lung
20	chr19:44145000-44152600	Weak transcription	Hela-S3	cervix
21	chr19:44145000-44152800	Weak transcription	Spleen	Spleen
22	chr19:44145000-44155600	Weak transcription	Pancreas	Pancrea
23	chr19:44145000-44156000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:44145000-44156000	Weak transcription	Colon Smooth Muscle	Colon
25	chr19:44145000-44156200	Weak transcription	Brain Anterior Caudate	brain
26	chr19:44145000-44156200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr19:44145000-44156400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:44145000-44158400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:44145000-44167400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr19:44145000-44168000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr19:44145000-44171400	Weak transcription	Fetal Heart	heart
32	chr19:44145000-44171600	Weak transcription	Esophagus	oesophagus
33	chr19:44145200-44162200	Weak transcription	Brain Germinal Matrix	brain
34	chr19:44145400-44150200	Weak transcription	HSMM	muscle
35	chr19:44145400-44150400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:44145400-44171200	Weak transcription	Fetal Brain Female	brain
37	chr19:44145800-44150400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:44145800-44152400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:44145800-44153200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:44146000-44150400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:44146000-44150400	Weak transcription	Osteobl	bone
42	chr19:44146000-44152800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:44146000-44156200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:44146200-44150400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr19:44146200-44150600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr19:44146400-44152000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:44146400-44152200	Weak transcription	Placenta	Placenta
48	chr19:44146400-44155800	Weak transcription	Brain Hippocampus Middle	brain
49	chr19:44146800-44151400	Weak transcription	Fetal Lung	lung
50	chr19:44147000-44150200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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