Variant report

Variant	rs396786
Chromosome Location	chr19:44494351-44494352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44493777..44495330-chr19:44504111..44506690,2	K562	blood:
2	chr19:44488273..44490047-chr19:44492744..44495947,3	MCF-7	breast:
3	chr19:44490423..44495330-chr19:44505190..44508106,4	K562	blood:

Variant related genes	Relation type
ENSG00000266921	Chromatin interaction
ENSG00000204920	Chromatin interaction
ENSG00000159882	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs370809	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs381091	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs381628	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs381759	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs381888	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs381983	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs382255	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs391267	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs392889	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs393195	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs393536	0.90[EUR][1000 genomes]
rs395803	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs396116	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs396148	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs396497	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397683	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs402785	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs405763	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs414402	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs419839	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs420355	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs420584	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs421505	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431166	0.99[ASN][1000 genomes]
rs431509	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs436739	0.89[EUR][1000 genomes]
rs436790	0.89[EUR][1000 genomes]
rs448692	0.83[AMR][1000 genomes];0.89[EUR][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	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44489200-44494600	Weak transcription	Gastric	stomach
2	chr19:44489200-44494600	Weak transcription	NHLF	lung
3	chr19:44489200-44496000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:44489200-44496000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr19:44489200-44496000	Weak transcription	Small Intestine	intestine
6	chr19:44489200-44496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:44489200-44500400	Weak transcription	HUVEC	blood vessel
8	chr19:44489200-44506200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:44489200-44506200	Weak transcription	Hela-S3	cervix
10	chr19:44489400-44495600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:44489400-44496600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:44489600-44494600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr19:44489600-44494800	Weak transcription	Fetal Intestine Small	intestine
14	chr19:44489600-44495600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:44489600-44496000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:44489600-44496200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:44489600-44506200	Weak transcription	HepG2	liver
18	chr19:44490000-44494800	Weak transcription	Spleen	Spleen
19	chr19:44490400-44494600	Weak transcription	Fetal Heart	heart
20	chr19:44491000-44500200	Strong transcription	Fetal Lung	lung
21	chr19:44491000-44501600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr19:44491000-44503400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:44491000-44503800	ZNF genes & repeats	Liver	Liver
24	chr19:44491400-44503400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr19:44491600-44500000	Strong transcription	Primary T cells from cord blood	blood
26	chr19:44491600-44501800	Strong transcription	Brain Hippocampus Middle	brain
27	chr19:44491800-44502200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:44492000-44494400	Strong transcription	Colon Smooth Muscle	Colon
29	chr19:44492000-44502000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:44492200-44499600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr19:44492200-44500200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr19:44492200-44500400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr19:44492200-44501400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:44492400-44494600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr19:44492400-44495400	ZNF genes & repeats	A549	lung
36	chr19:44492400-44497400	Strong transcription	Rectal Smooth Muscle	rectum
37	chr19:44492400-44499200	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr19:44492400-44501000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:44492400-44501400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:44492400-44501400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:44492400-44501800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr19:44492400-44501800	Strong transcription	Brain Cingulate Gyrus	brain
43	chr19:44492400-44502000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr19:44492400-44502200	Strong transcription	Fetal Intestine Large	intestine
45	chr19:44492400-44502200	Strong transcription	HSMM	muscle
46	chr19:44492400-44502400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:44492400-44502400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:44492400-44502600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr19:44492600-44496000	Strong transcription	Adipose Nuclei	Adipose
50	chr19:44492600-44496000	Strong transcription	Duodenum Mucosa	Duodenum

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