Variant report

Variant	rs4808165
Chromosome Location	chr19:18995201-18995202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr19:18994726-18995206	K562	blood:	n/a	chr19:18995195-18995206
2	MAX	chr19:18994352-18995219	K562	blood:	n/a	chr19:18994869-18994879

No.	Distal block	Cell Line	Cell type
1	chr19:18995047..18997410-chr19:19000136..19002731,2	K562	blood:
2	chr19:18994287..18995894-chr19:19028412..19030492,2	MCF-7	breast:
3	chr19:18993425..18995899-chr19:19009767..19011976,2	K562	blood:

Variant related genes	Relation type
CERS1	TF binding region
ENSG00000105669	Chromatin interaction
ENSG00000105671	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1005620	0.96[ASN][1000 genomes]
rs10401653	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11673194	0.84[CHD][hapmap]
rs4808163	0.91[ASN][1000 genomes]
rs4808866	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs4808868	0.84[CHD][hapmap];0.88[JPT][hapmap]
rs4808870	0.88[JPT][hapmap]
rs62138063	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6511008	0.89[ASN][1000 genomes]
rs7250661	0.87[CHD][hapmap]
rs7257086	0.84[CHD][hapmap]
rs757113	0.90[CEU][hapmap]
rs757114	0.84[CHD][hapmap]

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	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv911301	chr19:18994638-19077385	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911302	chr19:18995201-19088981	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18980400-19004000	Weak transcription	Psoas Muscle	Psoas
2	chr19:18980400-19004200	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr19:18981400-18998000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:18981800-18997800	Weak transcription	Ovary	ovary
5	chr19:18981800-19005800	Weak transcription	Right Atrium	heart
6	chr19:18982000-19002200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:18982600-19000800	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:18983400-18998200	Strong transcription	Brain Cingulate Gyrus	brain
9	chr19:18984000-18995600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr19:18984000-19004200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:18985600-19004400	Weak transcription	Fetal Brain Male	brain
12	chr19:18987200-19004200	Weak transcription	HSMMtube	muscle
13	chr19:18988000-19005400	Weak transcription	A549	lung
14	chr19:18988200-18995600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:18988200-19004800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:18988400-18996000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:18988400-18998400	Strong transcription	Fetal Muscle Leg	muscle
18	chr19:18989200-18999000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:18989200-18999200	Strong transcription	Fetal Brain Female	brain
20	chr19:18990200-19004000	Strong transcription	Fetal Stomach	stomach
21	chr19:18990400-18997600	Weak transcription	Gastric	stomach
22	chr19:18990400-18997800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:18991400-19004400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:18991600-18996600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr19:18992000-19002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:18992800-18997600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:18993000-19000400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:18994400-19004800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr19:18994600-18997200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr19:18994600-19004400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:18994800-19005400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr19:18995000-18995400	Enhancers	K562	blood
33	chr19:18995000-18996400	Weak transcription	Brain Hippocampus Middle	brain
34	chr19:18995000-18997400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:18995000-18997400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:18995000-18998400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:18995000-19002000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr19:18995000-19004800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr19:18995000-19005200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr19:18995200-18996600	Weak transcription	Brain Anterior Caudate	brain
41	chr19:18995200-18996600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr19:18995200-18996600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:18995200-18996600	Weak transcription	Brain Substantia Nigra	brain
44	chr19:18995200-18996600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr19:18995200-18996800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr19:18995200-18996800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:18995200-18996800	Weak transcription	Brain Germinal Matrix	brain
48	chr19:18995200-18997200	Weak transcription	Brain Angular Gyrus	brain
49	chr19:18995200-18997800	Weak transcription	Fetal Intestine Small	intestine
50	chr19:18995200-19004000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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