Variant report

Variant	rs147329443
Chromosome Location	chr19:40738015-40738016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40736338..40739484-chr19:40789317..40792416,3	MCF-7	breast:
2	chr19:40736321..40741961-chr19:40743077..40747922,9	K562	blood:
3	chr19:40731653..40734118-chr19:40736844..40738544,2	MCF-7	breast:
4	chr19:40737463..40738963-chr19:40741419..40742987,2	MCF-7	breast:
5	chr19:40728992..40731621-chr19:40735864..40738541,3	K562	blood:
6	chr19:40732606..40735043-chr19:40736232..40738956,2	K562	blood:
7	chr19:40736720..40741002-chr19:40742937..40745961,5	K562	blood:

Variant related genes	Relation type
ENSG00000105219	Chromatin interaction
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1062755	chr19:40737463-40758235	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40732400-40740800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:40732600-40739000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:40732600-40740400	Weak transcription	Brain Substantia Nigra	brain
4	chr19:40732800-40738400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:40732800-40738600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr19:40732800-40738800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr19:40732800-40739200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr19:40732800-40740800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:40732800-40740800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:40732800-40740800	Weak transcription	HMEC	breast
11	chr19:40732800-40759000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:40733000-40739000	Enhancers	Placenta	Placenta
13	chr19:40733000-40739000	Weak transcription	Gastric	stomach
14	chr19:40733000-40740800	Weak transcription	GM12878-XiMat	blood
15	chr19:40734000-40742000	Weak transcription	Small Intestine	intestine
16	chr19:40734200-40738600	Weak transcription	Esophagus	oesophagus
17	chr19:40734200-40739000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr19:40734400-40738800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr19:40734600-40738200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:40734600-40738400	Weak transcription	Fetal Brain Female	brain
21	chr19:40734600-40739000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:40734800-40738200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr19:40734800-40738600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:40734800-40740200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr19:40735000-40738400	Weak transcription	Fetal Thymus	thymus
26	chr19:40735000-40738600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:40735000-40740800	Weak transcription	Primary B cells from cord blood	blood
28	chr19:40735200-40738600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:40735200-40738800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:40735600-40738400	Enhancers	Adipose Nuclei	Adipose
31	chr19:40735600-40739000	Weak transcription	Brain Germinal Matrix	brain
32	chr19:40735600-40757600	Weak transcription	Stomach Mucosa	stomach
33	chr19:40735800-40739000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:40735800-40740400	Weak transcription	Aorta	Aorta
35	chr19:40735800-40748200	Weak transcription	Psoas Muscle	Psoas
36	chr19:40736000-40739800	Weak transcription	Primary T cells from cord blood	blood
37	chr19:40736000-40740000	Weak transcription	NHEK	skin
38	chr19:40736000-40740800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr19:40736200-40739200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:40736200-40741000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr19:40736400-40739000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr19:40736600-40739200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr19:40736600-40741000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr19:40737000-40738200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr19:40737000-40738400	Enhancers	Spleen	Spleen
46	chr19:40737000-40738800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:40737000-40738800	Flanking Active TSS	HepG2	liver
48	chr19:40737000-40739200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr19:40737200-40738200	Enhancers	Brain Hippocampus Middle	brain
50	chr19:40737200-40738200	Enhancers	HUVEC	blood vessel

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