Variant report

Variant	rs6509993
Chromosome Location	chr19:56883198-56883199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56882110..56884286-chr19:56904767..56906630,3	K562	blood:

Variant related genes	Relation type
ENSG00000018869	Chromatin interaction
ENSG00000267454	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10410099	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2288859	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869164	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4355036	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55781327	0.86[EUR][1000 genomes]
rs7257019	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8101813	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8106816	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers 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	93 gene(s)	inside rSNPs	diseases
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56880400-56884600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:56880400-56885400	Weak transcription	Esophagus	oesophagus
3	chr19:56880600-56883200	Weak transcription	Fetal Thymus	thymus
4	chr19:56880600-56884800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr19:56880600-56885000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr19:56880600-56885400	Weak transcription	Pancreas	Pancrea
7	chr19:56880600-56890600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:56880600-56890800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr19:56880600-56891200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:56880600-56891400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr19:56880800-56883600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:56880800-56883800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:56880800-56883800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:56880800-56884800	Weak transcription	Colonic Mucosa	Colon
15	chr19:56880800-56885000	Weak transcription	Gastric	stomach
16	chr19:56880800-56888400	Weak transcription	Stomach Mucosa	stomach
17	chr19:56880800-56890600	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr19:56880800-56890800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr19:56881000-56883200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:56881000-56883200	Weak transcription	NH-A	brain
21	chr19:56881000-56883400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr19:56881000-56883400	Weak transcription	Brain Substantia Nigra	brain
23	chr19:56881000-56883400	Weak transcription	Fetal Brain Male	brain
24	chr19:56881000-56883400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr19:56881000-56883400	Weak transcription	Thymus	Thymus
26	chr19:56881000-56883400	Strong transcription	HSMM	muscle
27	chr19:56881000-56883600	Weak transcription	Brain Anterior Caudate	brain
28	chr19:56881000-56883600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr19:56881000-56884000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:56881000-56884000	Weak transcription	HUVEC	blood vessel
31	chr19:56881000-56884400	Strong transcription	Fetal Muscle Leg	muscle
32	chr19:56881000-56885000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:56881000-56885000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:56881000-56885000	Weak transcription	Psoas Muscle	Psoas
35	chr19:56881000-56885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr19:56881000-56885600	Weak transcription	Spleen	Spleen
37	chr19:56881000-56886200	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr19:56881000-56886200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:56881000-56890800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:56881000-56891000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr19:56881200-56885000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:56881200-56892200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:56881200-56904000	ZNF genes & repeats	Liver	Liver
44	chr19:56881400-56883200	Weak transcription	Colon Smooth Muscle	Colon
45	chr19:56881400-56883200	ZNF genes & repeats	NHDF-Ad	bronchial
46	chr19:56881400-56885000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:56881400-56887000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:56881400-56887200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr19:56881400-56890600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:56881400-56893000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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