Variant report

Variant	rs60163114
Chromosome Location	chr19:38743296-38743297
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	chr19:38741131..38744022-chr19:38825237..38827049,2	K562	blood:
2	chr19:38741825..38743581-chr19:38794089..38796220,2	K562	blood:

Variant related genes	Relation type
ENSG00000099338	Chromatin interaction
ENSG00000167644	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880301	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11880326	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880459	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3745948	0.88[ASN][1000 genomes]
rs59648079	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508780	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7249532	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253827	0.82[EUR][1000 genomes]
rs7260295	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73030303	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73030307	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73030308	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73030309	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73030311	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101482	0.91[ASN][1000 genomes]
rs8111378	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8112201	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS 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 target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38734800-38743800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr19:38740400-38745800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr19:38741200-38743400	Enhancers	Pancreas	Pancrea
4	chr19:38741200-38744000	Enhancers	Duodenum Mucosa	Duodenum
5	chr19:38741200-38744400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:38741200-38744400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:38741200-38744600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:38741400-38744000	Enhancers	Fetal Heart	heart
9	chr19:38741400-38744400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:38741400-38744800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:38741400-38744800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:38741400-38744800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:38741400-38744800	Genic enhancers	A549	lung
14	chr19:38741400-38744800	Enhancers	HMEC	breast
15	chr19:38741600-38744200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:38741600-38744400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr19:38741600-38744600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr19:38741800-38743400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr19:38741800-38744200	Active TSS	Aorta	Aorta
20	chr19:38741800-38744200	Enhancers	Fetal Brain Male	brain
21	chr19:38741800-38744600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:38741800-38744600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr19:38741800-38744600	Enhancers	NHDF-Ad	bronchial
24	chr19:38741800-38744800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr19:38742000-38743400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
26	chr19:38742000-38744000	Flanking Active TSS	Fetal Stomach	stomach
27	chr19:38742000-38744200	Active TSS	Left Ventricle	heart
28	chr19:38742000-38744400	Enhancers	Primary hematopoietic stem cells	blood
29	chr19:38742000-38744400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr19:38742200-38743400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:38742200-38743600	Active TSS	Right Ventricle	heart
32	chr19:38742200-38744400	Active TSS	Right Atrium	heart
33	chr19:38742400-38743400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:38742400-38743400	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr19:38742400-38743400	Genic enhancers	Fetal Intestine Small	intestine
36	chr19:38742400-38744000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:38742400-38744800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr19:38742400-38745800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:38742600-38744200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:38742600-38744200	Active TSS	Colon Smooth Muscle	Colon
41	chr19:38742600-38744400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr19:38742600-38744400	Weak transcription	Liver	Liver
43	chr19:38742600-38744400	Enhancers	NHLF	lung
44	chr19:38742600-38744600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr19:38742800-38743600	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr19:38742800-38743600	Weak transcription	HSMM	muscle
47	chr19:38742800-38744200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr19:38742800-38744400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr19:38742800-38744600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:38742800-38744600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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