Variant report

Variant	rs58948242
Chromosome Location	chr19:19986570-19986571
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19975352..19978729-chr19:19985760..19988418,3	K562	blood:

Variant related genes	Relation type
ENSG00000256771	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10406883	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11786	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11881376	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16994693	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2060238	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2098331	0.86[ASN][1000 genomes]
rs2335372	0.86[ASN][1000 genomes]
rs55696844	0.86[ASN][1000 genomes]
rs55849911	0.86[ASN][1000 genomes]
rs55984158	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57088108	0.86[ASN][1000 genomes]
rs57575150	0.86[ASN][1000 genomes]
rs57920747	0.86[ASN][1000 genomes]
rs59511604	0.86[ASN][1000 genomes]
rs59795312	0.93[EUR][1000 genomes]
rs60409469	0.86[ASN][1000 genomes]
rs60588790	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7249318	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7251285	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7253023	0.86[ASN][1000 genomes]
rs7254824	0.86[ASN][1000 genomes]
rs73530903	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73530906	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73530911	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73530927	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73530932	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73530989	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73530999	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73925530	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73925536	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73925537	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8104442	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8104555	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv911314	chr19:19866371-20021046	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv911315	chr19:19872093-20021046	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv911316	chr19:19890450-20021046	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv961192	chr19:19906394-20083740	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
8	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
9	esv3413756	chr19:19936066-20072059	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3380276	chr19:19936583-20073601	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1066792	chr19:19940585-20000701	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3429980	chr19:19943721-20102072	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1061846	chr19:19946927-20595412	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
14	esv3390957	chr19:19965887-20819154	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
15	nsv869122	chr19:19969851-20595412	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
16	nsv1057569	chr19:19973268-20193556	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
17	nsv1059158	chr19:19973489-20576161	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers 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	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19977600-19995600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:19977600-20006800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:19977800-19993200	Weak transcription	Spleen	Spleen
4	chr19:19978200-19993600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:19978400-19990800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:19978600-19989000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:19978600-19991000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr19:19978600-19992400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:19978600-19995200	Weak transcription	Pancreas	Pancrea
10	chr19:19978600-19996800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:19978600-19999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:19978600-19999000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:19978600-19999000	Weak transcription	Right Ventricle	heart
14	chr19:19978800-20007600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:19979000-20004000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr19:19979200-19988600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:19979200-20007400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:19979400-19990800	Weak transcription	Adipose Nuclei	Adipose
19	chr19:19979400-19996400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr19:19979400-19996800	Weak transcription	Brain Substantia Nigra	brain
21	chr19:19979400-20008200	ZNF genes & repeats	Liver	Liver
22	chr19:19979600-19990800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:19979600-19991200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr19:19979600-19992800	Weak transcription	Brain Angular Gyrus	brain
25	chr19:19979600-19992800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr19:19979600-19996800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr19:19980000-19986800	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:19980000-19987600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr19:19980000-19991200	Weak transcription	Brain Hippocampus Middle	brain
30	chr19:19980200-19990800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:19980200-20001000	Weak transcription	Fetal Heart	heart
32	chr19:19981000-19995800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr19:19982000-19987800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:19982000-19995000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:19982000-19995600	ZNF genes & repeats	Fetal Brain Female	brain
36	chr19:19982000-19995800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr19:19982400-19992200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr19:19982400-20000200	Weak transcription	Gastric	stomach
39	chr19:19982600-19993000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr19:19983000-19990800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr19:19983000-19993400	Weak transcription	Osteobl	bone
42	chr19:19983200-19987200	Weak transcription	Psoas Muscle	Psoas
43	chr19:19983200-19988600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr19:19983200-19990200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr19:19983200-19990800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:19983200-19996600	Weak transcription	Brain Anterior Caudate	brain
47	chr19:19983800-19989600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:19984000-19993000	Weak transcription	HSMM	muscle
49	chr19:19984200-19991400	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr19:19984200-19999400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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