Variant report

Variant	rs7250274
Chromosome Location	chr19:21217348-21217349
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	chr19:21215243..21217384-chr19:21265595..21267237,2	K562	blood:

Variant related genes	Relation type
ENSG00000160352	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10409844	0.86[AFR][1000 genomes]
rs10412688	0.88[AFR][1000 genomes]
rs10413692	0.88[AFR][1000 genomes]
rs11670162	0.87[AFR][1000 genomes]
rs11672142	0.86[AFR][1000 genomes]
rs12608706	0.85[AFR][1000 genomes]
rs12609167	0.87[AFR][1000 genomes]
rs12609831	0.90[AFR][1000 genomes]
rs12611115	0.90[AFR][1000 genomes]
rs12975789	0.90[AFR][1000 genomes]
rs12976796	0.86[AFR][1000 genomes]
rs12981855	0.84[AFR][1000 genomes]
rs2164989	0.81[AFR][1000 genomes]
rs2358792	0.87[AFR][1000 genomes]
rs2358795	0.88[AFR][1000 genomes]
rs4292035	0.87[AFR][1000 genomes]
rs4365405	0.90[AFR][1000 genomes]
rs4809119	0.84[AFR][1000 genomes]
rs6511186	0.85[AFR][1000 genomes]
rs6511187	0.83[AFR][1000 genomes]
rs6511188	0.85[AFR][1000 genomes]
rs7248087	0.87[AFR][1000 genomes]
rs7249283	0.86[AFR][1000 genomes]
rs7258831	0.85[AFR][1000 genomes]
rs8103696	0.90[AFR][1000 genomes]
rs8107982	0.86[AFR][1000 genomes]
rs8112216	0.86[AFR][1000 genomes]
rs9304980	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7250274	ZNF714	cis	Nerve Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204200-21224400	Weak transcription	Liver	Liver
2	chr19:21204200-21230400	Weak transcription	Gastric	stomach
3	chr19:21204400-21224000	Weak transcription	Aorta	Aorta
4	chr19:21204400-21224400	Weak transcription	Pancreas	Pancrea
5	chr19:21204400-21227200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:21204400-21229200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr19:21204400-21231600	Weak transcription	Colonic Mucosa	Colon
8	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
9	chr19:21204600-21227800	Weak transcription	Brain Angular Gyrus	brain
10	chr19:21204600-21239800	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:21205400-21222800	Weak transcription	Fetal Brain Male	brain
12	chr19:21205600-21219200	Weak transcription	Small Intestine	intestine
13	chr19:21206200-21218000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr19:21206200-21218000	Weak transcription	NHLF	lung
15	chr19:21206200-21223000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:21206200-21223600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr19:21206200-21226600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:21206200-21241600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:21206400-21220200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:21207200-21219200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:21207200-21222800	Weak transcription	Fetal Kidney	kidney
22	chr19:21207200-21239400	Weak transcription	Hela-S3	cervix
23	chr19:21207400-21224200	Weak transcription	Spleen	Spleen
24	chr19:21207400-21226600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:21208600-21221200	Weak transcription	Fetal Intestine Small	intestine
26	chr19:21208600-21223000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:21208600-21230000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:21209200-21235600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr19:21209400-21221400	Weak transcription	Fetal Brain Female	brain
30	chr19:21210200-21232200	Weak transcription	K562	blood
31	chr19:21211000-21217600	Weak transcription	Brain Germinal Matrix	brain
32	chr19:21211200-21220000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:21211400-21218400	Weak transcription	Stomach Mucosa	stomach
34	chr19:21211400-21219400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr19:21211400-21221800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr19:21211400-21222800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr19:21211400-21235400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr19:21211600-21224400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr19:21211800-21218200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:21211800-21221600	ZNF genes & repeats	GM12878-XiMat	blood
41	chr19:21211800-21228800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:21212000-21221400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr19:21212000-21226000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:21212000-21227400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:21212000-21228000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:21212000-21228200	Weak transcription	Brain Hippocampus Middle	brain
47	chr19:21212000-21241400	Weak transcription	Fetal Heart	heart
48	chr19:21212200-21223800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr19:21212400-21220400	Strong transcription	HSMM	muscle
50	chr19:21212400-21224400	Strong transcription	Dnd41	blood

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