Variant report

Variant	rs73617888
Chromosome Location	chr19:55902410-55902411
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55724006..55730191-chr19:55893749..55903961,17	K562	blood:
2	chr19:55901176..55903609-chr19:56015366..56016869,2	K562	blood:
3	chr19:55791572..55793348-chr19:55900971..55904360,3	K562	blood:
4	chr19:55901947..55903486-chr19:56163759..56166396,2	K562	blood:
5	chr19:55667708..55669899-chr19:55901509..55903076,2	K562	blood:
6	chr19:55901062..55903652-chr19:55943271..55945381,2	K562	blood:
7	chr19:55723991..55730191-chr19:55895529..55902666,13	K562	blood:
8	chr19:55791572..55793348-chr19:55900971..55903516,2	K562	blood:
9	chr19:55768308..55771050-chr19:55902034..55903717,2	MCF-7	breast:
10	chr19:55901718..55903735-chr19:55970894..55973271,2	K562	blood:
11	chr19:55901948..55903653-chr19:55965292..55966908,2	K562	blood:
12	chr19:55780112..55782916-chr19:55901581..55903406,2	MCF-7	breast:
13	chr19:55865353..55867670-chr19:55900964..55902717,2	K562	blood:
14	chr19:55828032..55829651-chr19:55900502..55903432,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000133265	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000129991	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000160471	Chromatin interaction
ENSG00000063241	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10403564	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10403989	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10404049	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10404370	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10405802	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10407066	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10408088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10408448	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10408525	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10408540	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10410269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10411984	0.88[AFR][1000 genomes]
rs10415365	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10416908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10420818	1.00[AFR][1000 genomes]
rs10421889	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423589	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10424289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10424652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10425107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10425362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10425596	0.88[AFR][1000 genomes]
rs28408730	1.00[AFR][1000 genomes]
rs28536711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28540780	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28797308	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59698058	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61468173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73619606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73619611	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73619651	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]

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	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
2	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	228 gene(s)	inside rSNPs	diseases
4	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
5	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
6	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
7	nsv912464	chr19:55850269-55921164	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
8	nsv912465	chr19:55854313-55935184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
9	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
10	nsv544085	chr19:55875808-55911275	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 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	chr19:55897600-55903000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:55897800-55903000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:55898800-55903000	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr19:55899000-55903000	Genic enhancers	Brain Angular Gyrus	brain
5	chr19:55899000-55903000	Genic enhancers	Fetal Muscle Leg	muscle
6	chr19:55899200-55903000	Genic enhancers	Pancreas	Pancrea
7	chr19:55899200-55903400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
8	chr19:55899200-55913400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:55899400-55902800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
10	chr19:55899400-55903000	Genic enhancers	Gastric	stomach
11	chr19:55899400-55903000	Genic enhancers	NHDF-Ad	bronchial
12	chr19:55899400-55903400	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr19:55899600-55902600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:55899600-55903000	Genic enhancers	Brain Inferior Temporal Lobe	brain
15	chr19:55899600-55903600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:55899600-55904400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:55899800-55903000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr19:55900000-55902800	Genic enhancers	Right Ventricle	heart
19	chr19:55900000-55902800	Genic enhancers	HepG2	liver
20	chr19:55900000-55903000	Strong transcription	Fetal Lung	lung
21	chr19:55900000-55903400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:55900000-55904400	Strong transcription	Fetal Stomach	stomach
23	chr19:55900200-55902800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
24	chr19:55900200-55902800	Genic enhancers	Brain Cingulate Gyrus	brain
25	chr19:55900200-55903000	Strong transcription	Rectal Smooth Muscle	rectum
26	chr19:55900200-55903600	Strong transcription	Osteobl	bone
27	chr19:55900200-55903800	Strong transcription	Primary B cells from cord blood	blood
28	chr19:55900200-55904400	Strong transcription	Thymus	Thymus
29	chr19:55900200-55918400	Weak transcription	Psoas Muscle	Psoas
30	chr19:55900400-55902600	Strong transcription	HMEC	breast
31	chr19:55900400-55903000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr19:55900400-55903400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr19:55900400-55903600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr19:55900400-55903800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:55900400-55904600	Strong transcription	Fetal Intestine Small	intestine
36	chr19:55900400-55911800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr19:55900600-55902600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:55900600-55903000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr19:55900600-55903400	Genic enhancers	NHLF	lung
40	chr19:55900600-55903600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr19:55900600-55903800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:55900600-55903800	Strong transcription	Brain Anterior Caudate	brain
43	chr19:55900600-55917600	Weak transcription	Stomach Mucosa	stomach
44	chr19:55900800-55903000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:55900800-55903200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:55900800-55903800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:55900800-55903800	Strong transcription	Liver	Liver
48	chr19:55901000-55902800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:55901000-55902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:55901000-55903000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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