Variant report

Variant	rs375824391
Chromosome Location	chr19:19006039-19006040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19005501..19008972-chr19:19028688..19032169,4	K562	blood:
2	chr19:18958001..18958531-chr19:19005510..19006064,2	MCF-7	breast:
3	chr19:19005632..19006817-chr19:19097231..19098010,3	K562	blood:
4	chr19:18958703..18961204-chr19:19005451..19007447,2	MCF-7	breast:
5	chr19:18976234..18978409-chr19:19004531..19006846,2	MCF-7	breast:
6	chr19:18941134..18944715-chr19:19004445..19006890,3	MCF-7	breast:
7	chr19:19005482..19006695-chr19:19097291..19098316,11	MCF-7	breast:
8	chr19:19005129..19007826-chr19:19028734..19032982,4	MCF-7	breast:
9	chr19:19005608..19006831-chr19:19051981..19052661,4	K562	blood:
10	chr19:18992536..18993055-chr19:19005219..19006075,2	MCF-7	breast:
11	chr19:19005951..19006543-chr19:19051691..19052235,2	MCF-7	breast:
12	chr19:19004982..19008022-chr19:19042434..19045091,3	K562	blood:
13	chr19:19005584..19006102-chr20:49411028..49412002,2	MCF-7	breast:
14	chr19:19005183..19007690-chr19:19050687..19053273,2	MCF-7	breast:
15	chr19:19005974..19006784-chr19:19097290..19098023,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000051128	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000269019	Chromatin interaction
ENSG00000124243	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv911301	chr19:18994638-19077385	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911302	chr19:18995201-19088981	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	esv3340381	chr19:19005752-19008350	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 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	chr19:19004200-19006200	Enhancers	Fetal Heart	heart
2	chr19:19004600-19006200	Bivalent Enhancer	Placenta	Placenta
3	chr19:19004600-19006200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
4	chr19:19004600-19006600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr19:19004800-19007200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:19004800-19007800	Active TSS	Brain Substantia Nigra	brain
7	chr19:19004800-19008400	Active TSS	Brain Cingulate Gyrus	brain
8	chr19:19005000-19006600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:19005000-19007200	Active TSS	Brain Anterior Caudate	brain
10	chr19:19005000-19007400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:19005000-19007400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr19:19005000-19007600	Active TSS	Brain Angular Gyrus	brain
13	chr19:19005200-19006200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:19005200-19006400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:19005200-19006400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr19:19005200-19006400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
17	chr19:19005200-19006400	Bivalent Enhancer	Fetal Thymus	thymus
18	chr19:19005200-19006600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr19:19005200-19006600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:19005200-19006600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:19005200-19006600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr19:19005400-19006200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr19:19005400-19006600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr19:19005400-19006600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr19:19005400-19006600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
26	chr19:19005400-19006600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
27	chr19:19005400-19006600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
28	chr19:19005400-19006800	Active TSS	Hela-S3	cervix
29	chr19:19005600-19006200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:19005600-19006200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr19:19005600-19006200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
32	chr19:19005600-19006400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr19:19005600-19006400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
34	chr19:19005600-19006600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr19:19005600-19006600	Active TSS	Fetal Kidney	kidney
36	chr19:19005600-19006800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:19005600-19006800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:19005600-19007400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr19:19005600-19007400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:19005600-19007600	Enhancers	Pancreas	Pancrea
41	chr19:19005800-19006200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:19005800-19006200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr19:19005800-19006200	Bivalent Enhancer	Primary T cells from cord blood	blood
44	chr19:19005800-19006200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
45	chr19:19005800-19006200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
46	chr19:19005800-19006200	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr19:19005800-19006200	Flanking Active TSS	Right Atrium	heart
48	chr19:19005800-19006200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
49	chr19:19005800-19006200	Flanking Active TSS	K562	blood
50	chr19:19005800-19006200	Bivalent/Poised TSS	NHEK	skin

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