Variant report

Variant	rs73930652
Chromosome Location	chr19:40318551-40318552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40313245..40319369-chr19:40333328..40340168,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105202	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4621102	1.00[AMR][1000 genomes]
rs56187122	1.00[AFR][1000 genomes]
rs59397913	1.00[AMR][1000 genomes]
rs61730563	1.00[AMR][1000 genomes]
rs7247534	1.00[AMR][1000 genomes]
rs73930648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv911696	chr19:40310497-40344648	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40312000-40323200	Strong transcription	A549	lung
2	chr19:40313600-40320200	Weak transcription	K562	blood
3	chr19:40315200-40319200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:40315200-40320400	Weak transcription	Aorta	Aorta
5	chr19:40315200-40320400	Weak transcription	Psoas Muscle	Psoas
6	chr19:40315400-40319400	Weak transcription	HSMM	muscle
7	chr19:40315400-40322800	Strong transcription	Placenta	Placenta
8	chr19:40315600-40319200	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr19:40315800-40318800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:40315800-40319200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr19:40315800-40319200	Weak transcription	NHDF-Ad	bronchial
12	chr19:40315800-40319400	Weak transcription	HSMMtube	muscle
13	chr19:40315800-40319400	Weak transcription	NH-A	brain
14	chr19:40315800-40320400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr19:40315800-40320400	Strong transcription	NHLF	lung
16	chr19:40315800-40322200	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr19:40315800-40322400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr19:40315800-40322400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:40315800-40322600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:40315800-40323400	Weak transcription	Right Atrium	heart
21	chr19:40315800-40323600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:40316000-40320600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:40316000-40320600	Weak transcription	HMEC	breast
24	chr19:40316000-40321000	Strong transcription	Colonic Mucosa	Colon
25	chr19:40316000-40321200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr19:40316000-40321800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
27	chr19:40316000-40321800	Strong transcription	Thymus	Thymus
28	chr19:40316000-40322000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:40316000-40322000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:40316000-40322200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:40316000-40322400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:40316000-40322400	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr19:40316000-40322400	Strong transcription	Lung	lung
34	chr19:40316000-40322600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:40316000-40322800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:40316000-40322800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr19:40316000-40322800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr19:40316000-40323000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:40316000-40323200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:40316000-40323200	Strong transcription	NHEK	skin
41	chr19:40316200-40318800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr19:40316200-40319400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr19:40316200-40320400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:40316200-40320600	Strong transcription	Spleen	Spleen
45	chr19:40316200-40321400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
46	chr19:40316200-40321600	Weak transcription	Fetal Brain Male	brain
47	chr19:40316200-40321600	Strong transcription	Right Ventricle	heart
48	chr19:40316200-40321800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr19:40316200-40321800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:40316200-40322000	Strong transcription	H1 Cell Line	embryonic stem cell

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