Variant report

Variant	rs59783649
Chromosome Location	chr19:18401600-18401601
allele	C/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	chr19:18400699..18403651-chr19:18419852..18422642,3	MCF-7	breast:
2	chr19:18312262..18317051-chr19:18400963..18403805,6	K562	blood:
3	chr19:18397375..18399268-chr19:18401136..18404109,3	MCF-7	breast:
4	chr19:18401578..18404276-chr19:18423557..18426532,3	MCF-7	breast:
5	chr19:18302170..18305660-chr19:18401195..18405858,4	K562	blood:
6	chr19:18399894..18406849-chr19:18524216..18528146,7	K562	blood:
7	chr19:18401356..18404646-chr19:18426877..18430398,3	MCF-7	breast:
8	chr19:18400747..18403330-chr19:18449390..18451589,2	MCF-7	breast:
9	chr19:18401219..18403763-chr19:18495464..18498325,2	K562	blood:
10	chr19:18401175..18404023-chr19:18537863..18539807,2	K562	blood:
11	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
12	chr19:18401391..18404924-chr19:18547602..18550007,3	K562	blood:
13	chr19:18399345..18407720-chr19:18430417..18436364,18	MCF-7	breast:
14	chr19:18397948..18402412-chr19:18484415..18487037,3	K562	blood:
15	chr19:18401371..18405274-chr19:18416257..18419267,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130520	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000221167	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10419232	0.84[EUR][1000 genomes]
rs41374444	0.82[AMR][1000 genomes]
rs41446250	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56123634	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57734410	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57934386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58997823	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60235938	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73005418	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
5	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers 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	162 gene(s)	inside rSNPs	diseases
6	nsv911269	chr19:18351674-18418044	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
7	nsv911270	chr19:18351674-18422364	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
8	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
9	nsv828472	chr19:18377725-18404131	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
10	esv1833305	chr19:18378219-18408222	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
11	nsv911272	chr19:18378219-18439383	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
12	nsv911273	chr19:18386798-18454825	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	134 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	chr19:18393800-18402000	Weak transcription	Aorta	Aorta
2	chr19:18394000-18402000	Weak transcription	Brain Anterior Caudate	brain
3	chr19:18394000-18402800	Weak transcription	Gastric	stomach
4	chr19:18394400-18402000	Weak transcription	Pancreas	Pancrea
5	chr19:18394400-18402000	Weak transcription	Right Ventricle	heart
6	chr19:18394600-18402200	Weak transcription	Psoas Muscle	Psoas
7	chr19:18396000-18402600	Weak transcription	Small Intestine	intestine
8	chr19:18396200-18402600	Weak transcription	Liver	Liver
9	chr19:18397800-18402000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr19:18397800-18402000	Weak transcription	HSMMtube	muscle
11	chr19:18397800-18402200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:18398400-18402200	Enhancers	Fetal Thymus	thymus
13	chr19:18398800-18402000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:18399000-18402000	Enhancers	Primary B cells from peripheral blood	blood
15	chr19:18399000-18402000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:18399000-18402000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:18399200-18402000	Enhancers	Primary B cells from cord blood	blood
18	chr19:18399400-18402000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr19:18399400-18402000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:18399400-18402000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr19:18399400-18402200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:18399400-18402200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:18399400-18402200	Weak transcription	Fetal Kidney	kidney
24	chr19:18399400-18402400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:18399600-18402000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr19:18399600-18402200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr19:18399600-18402200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:18399800-18402000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:18399800-18402000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr19:18400000-18402000	Enhancers	Primary hematopoietic stem cells	blood
31	chr19:18400200-18402000	Enhancers	Placenta	Placenta
32	chr19:18400200-18402400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr19:18400400-18402000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr19:18400400-18402200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr19:18400400-18402400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:18400600-18401600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr19:18400600-18402000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr19:18400600-18402000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr19:18400600-18402000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:18400600-18402000	Enhancers	Brain Substantia Nigra	brain
41	chr19:18400600-18402000	Enhancers	Duodenum Mucosa	Duodenum
42	chr19:18400600-18402000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr19:18400600-18402000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr19:18400600-18402000	Enhancers	Fetal Muscle Trunk	muscle
45	chr19:18400600-18402000	Enhancers	Fetal Stomach	stomach
46	chr19:18400600-18402000	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr19:18400600-18402000	Enhancers	Stomach Smooth Muscle	stomach
48	chr19:18400600-18402000	Enhancers	Spleen	Spleen
49	chr19:18400600-18402000	Enhancers	A549	lung
50	chr19:18400600-18402200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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