Variant report

Variant	rs73630827
Chromosome Location	chr19:38572546-38572547
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38479835..38482339-chr19:38571881..38574395,2	MCF-7	breast:
2	chr19:38566759..38569672-chr19:38571944..38574056,2	K562	blood:
3	chr19:38395477..38398410-chr19:38570467..38573165,2	MCF-7	breast:
4	chr19:38571851..38573494-chr19:38584159..38586399,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105738	Chromatin interaction
ENSG00000171804	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56352938	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60084813	1.00[AMR][1000 genomes]
rs61100737	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73628693	1.00[AMR][1000 genomes]
rs73630824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73630882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73630883	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73630884	0.82[AFR][1000 genomes]
rs73630888	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73630889	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73634433	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38528200-38573200	Weak transcription	Left Ventricle	heart
2	chr19:38539200-38591200	Weak transcription	Small Intestine	intestine
3	chr19:38549600-38572600	Weak transcription	Thymus	Thymus
4	chr19:38550800-38590000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr19:38551200-38613800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:38554200-38572600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:38554800-38573200	Weak transcription	Brain Angular Gyrus	brain
8	chr19:38554800-38580200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr19:38564800-38579000	Weak transcription	Fetal Lung	lung
10	chr19:38565000-38579200	Weak transcription	Brain Substantia Nigra	brain
11	chr19:38565600-38572800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr19:38565600-38588400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:38567600-38573200	Weak transcription	Brain Anterior Caudate	brain
14	chr19:38567600-38605400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:38567800-38573000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr19:38568000-38590200	Strong transcription	Fetal Intestine Small	intestine
17	chr19:38569000-38573400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr19:38569600-38572600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:38570400-38574400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr19:38570600-38572800	Weak transcription	Stomach Mucosa	stomach
21	chr19:38570600-38579000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr19:38570800-38573200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:38570800-38584000	Weak transcription	Right Atrium	heart
24	chr19:38570800-38590200	Weak transcription	Fetal Thymus	thymus
25	chr19:38571000-38573000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:38571000-38573200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:38571000-38574600	Weak transcription	Placenta	Placenta
28	chr19:38571000-38580800	Weak transcription	Hela-S3	cervix
29	chr19:38571000-38590000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:38571000-38590200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:38571200-38572600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr19:38571200-38578800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:38571200-38579400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:38571200-38580000	Weak transcription	HSMMtube	muscle
35	chr19:38571200-38580200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr19:38571200-38590200	Weak transcription	HMEC	breast
37	chr19:38571200-38590200	Weak transcription	NHEK	skin
38	chr19:38571400-38572800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr19:38571400-38573000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:38571400-38573600	Weak transcription	HUVEC	blood vessel
41	chr19:38571400-38579200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:38571400-38579200	Weak transcription	HepG2	liver
43	chr19:38571400-38586000	Strong transcription	A549	lung
44	chr19:38571600-38572600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr19:38571600-38575200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:38571600-38579200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr19:38571800-38574000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:38571800-38574000	Strong transcription	Aorta	Aorta
49	chr19:38571800-38574000	Strong transcription	Esophagus	oesophagus
50	chr19:38571800-38574000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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