Variant report

Variant	rs1630393
Chromosome Location	chr19:38554057-38554058
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	chr19:38543891..38548790-chr19:38549215..38554298,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221258	Chromatin interaction

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

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

rs_ID	r²[population]
rs1654346	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1654351	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654353	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1725471	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1725476	0.87[AFR][1000 genomes]
rs4803708	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855635	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[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	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
2	nsv1062518	chr19:38540454-38564913	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38528200-38573200	Weak transcription	Left Ventricle	heart
2	chr19:38539000-38572000	Weak transcription	Right Ventricle	heart
3	chr19:38539200-38591200	Weak transcription	Small Intestine	intestine
4	chr19:38543800-38563200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr19:38546600-38572200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr19:38547000-38554800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:38547000-38563600	Weak transcription	Fetal Lung	lung
8	chr19:38547200-38561400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:38548600-38554400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:38548600-38555000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:38549200-38564800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:38549200-38572000	Weak transcription	Liver	Liver
13	chr19:38549400-38560000	Weak transcription	Psoas Muscle	Psoas
14	chr19:38549600-38572600	Weak transcription	Thymus	Thymus
15	chr19:38550000-38561000	Weak transcription	Hela-S3	cervix
16	chr19:38550000-38570400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr19:38550800-38563400	Weak transcription	Spleen	Spleen
18	chr19:38550800-38565200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr19:38550800-38570000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr19:38550800-38572200	Weak transcription	Colonic Mucosa	Colon
21	chr19:38550800-38590000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr19:38551000-38556000	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr19:38551000-38572000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:38551200-38555600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:38551200-38562200	Weak transcription	Primary T cells from cord blood	blood
26	chr19:38551200-38562600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr19:38551200-38563600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr19:38551200-38567000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr19:38551200-38613800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr19:38551400-38562400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:38551400-38567000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:38551600-38554800	Enhancers	HSMM	muscle
33	chr19:38551800-38554600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:38551800-38555000	Enhancers	Fetal Muscle Leg	muscle
35	chr19:38552200-38554200	Enhancers	Pancreas	Pancrea
36	chr19:38552200-38555000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:38552200-38555000	Genic enhancers	Fetal Intestine Large	intestine
38	chr19:38552200-38556000	Strong transcription	Primary B cells from cord blood	blood
39	chr19:38552400-38554200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:38552400-38560800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:38552400-38561000	Weak transcription	NHEK	skin
42	chr19:38552400-38561200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:38552600-38554800	Genic enhancers	Fetal Intestine Small	intestine
44	chr19:38552600-38555000	Enhancers	Fetal Muscle Trunk	muscle
45	chr19:38552600-38555400	Weak transcription	Osteobl	bone
46	chr19:38552600-38559800	Weak transcription	HSMMtube	muscle
47	chr19:38552800-38554800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:38552800-38560000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:38553000-38554400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:38553000-38554400	Enhancers	Brain Cingulate Gyrus	brain

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