Variant report

Variant	rs8105647
Chromosome Location	chr19:44149449-44149450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44144909..44146958-chr19:44147965..44150519,2	K562	blood:
2	chr19:44082737..44084299-chr19:44149174..44151871,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10408322	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2079646	0.90[JPT][hapmap]
rs400058	0.88[ASW][hapmap]
rs4803648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6509099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7252391	1.00[ASW][hapmap];0.93[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:84 , 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	chr19:44144800-44150000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:44144800-44150400	Weak transcription	Liver	Liver
5	chr19:44144800-44152400	Weak transcription	Colonic Mucosa	Colon
6	chr19:44144800-44152400	Weak transcription	Dnd41	blood
7	chr19:44144800-44156000	Weak transcription	K562	blood
8	chr19:44144800-44156800	Weak transcription	Right Atrium	heart
9	chr19:44145000-44150400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:44145000-44150400	Weak transcription	A549	lung
11	chr19:44145000-44150400	Weak transcription	NH-A	brain
12	chr19:44145000-44151400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:44145000-44152000	Weak transcription	NHEK	skin
14	chr19:44145000-44152400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr19:44145000-44152400	Weak transcription	Gastric	stomach
16	chr19:44145000-44152400	Weak transcription	Left Ventricle	heart
17	chr19:44145000-44152400	Weak transcription	Ovary	ovary
18	chr19:44145000-44152400	Weak transcription	Right Ventricle	heart
19	chr19:44145000-44152400	Weak transcription	HMEC	breast
20	chr19:44145000-44152400	Weak transcription	NHLF	lung
21	chr19:44145000-44152600	Weak transcription	Hela-S3	cervix
22	chr19:44145000-44152800	Weak transcription	Spleen	Spleen
23	chr19:44145000-44155600	Weak transcription	Pancreas	Pancrea
24	chr19:44145000-44156000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr19:44145000-44156000	Weak transcription	Colon Smooth Muscle	Colon
26	chr19:44145000-44156200	Weak transcription	Brain Anterior Caudate	brain
27	chr19:44145000-44156200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:44145000-44156400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:44145000-44158400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:44145000-44167400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr19:44145000-44168000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr19:44145000-44171400	Weak transcription	Fetal Heart	heart
33	chr19:44145000-44171600	Weak transcription	Esophagus	oesophagus
34	chr19:44145200-44162200	Weak transcription	Brain Germinal Matrix	brain
35	chr19:44145400-44150200	Weak transcription	HSMM	muscle
36	chr19:44145400-44150400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:44145400-44171200	Weak transcription	Fetal Brain Female	brain
38	chr19:44145800-44150400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:44145800-44152400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:44145800-44153200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:44146000-44150400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:44146000-44150400	Weak transcription	Osteobl	bone
43	chr19:44146000-44152800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr19:44146000-44156200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr19:44146200-44150000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:44146200-44150400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr19:44146200-44150600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr19:44146400-44152000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:44146400-44152200	Weak transcription	Placenta	Placenta
50	chr19:44146400-44155800	Weak transcription	Brain Hippocampus Middle	brain

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