Variant report

Variant	rs4239505
Chromosome Location	chr19:40780199-40780200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr19:40780085-40780245	K562	blood:	n/a	n/a
2	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr19:40779523-40781545	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40778844..40781132-chr19:41035904..41037926,2	K562	blood:
2	chr19:40773358..40775863-chr19:40778274..40780379,3	K562	blood:
3	chr19:40780031..40782205-chr19:40949064..40951116,2	K562	blood:
4	chr19:40774152..40777118-chr19:40779107..40782198,3	MCF-7	breast:
5	chr19:40776409..40778614-chr19:40779445..40781045,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC118344.1-1	chr19:40780067-40781386	ENSG00000205041.1

No data

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000160460	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000268366	Chromatin interaction
ENSG00000105221	Chromatin interaction

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

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

rs_ID	r²[population]
rs10419783	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10424645	1.00[AMR][1000 genomes]
rs3745196	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4239507	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4273150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4525604	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4803321	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4803322	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8103643	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8103796	1.00[AMR][1000 genomes]
rs8106701	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8110038	1.00[AMR][1000 genomes]
rs8111561	1.00[AMR][1000 genomes];1.00[EUR][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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1064502	chr19:40758049-40781360	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1063993	chr19:40763787-40781360	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1059884	chr19:40763839-40781360	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1057052	chr19:40776128-40789766	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40759800-40780600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40762800-40780800	Weak transcription	Small Intestine	intestine
3	chr19:40766200-40788600	Weak transcription	HSMMtube	muscle
4	chr19:40767800-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:40768200-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:40769600-40783600	Weak transcription	Fetal Kidney	kidney
7	chr19:40770000-40789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:40770000-40789600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:40770200-40789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr19:40770200-40790200	Weak transcription	Aorta	Aorta
11	chr19:40770400-40784000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:40771000-40780400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:40771000-40780800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr19:40771000-40783600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr19:40771400-40789400	Weak transcription	HUVEC	blood vessel
16	chr19:40771600-40780400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr19:40771600-40786000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr19:40773800-40780800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:40774800-40780400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr19:40776000-40787400	Weak transcription	A549	lung
21	chr19:40776200-40780400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr19:40776400-40780400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:40776400-40785000	Weak transcription	NHLF	lung
24	chr19:40776600-40780400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:40776600-40783200	Weak transcription	Fetal Intestine Large	intestine
26	chr19:40776600-40783800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr19:40776600-40785800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:40776800-40780400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr19:40777800-40780200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr19:40778000-40786400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:40778400-40780200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:40778400-40783600	Weak transcription	NHEK	skin
33	chr19:40778600-40784000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:40778600-40784400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr19:40778800-40780800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:40778800-40784200	Weak transcription	HSMM	muscle
37	chr19:40778800-40784200	Weak transcription	Osteobl	bone
38	chr19:40778800-40785200	Weak transcription	HMEC	breast
39	chr19:40778800-40786200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:40778800-40787600	Weak transcription	Hela-S3	cervix
41	chr19:40779000-40780400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr19:40779000-40780600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr19:40779000-40781600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr19:40779000-40786800	Weak transcription	Dnd41	blood
45	chr19:40779200-40781400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr19:40779200-40781400	Enhancers	Fetal Muscle Trunk	muscle
47	chr19:40779200-40781600	Flanking Active TSS	K562	blood
48	chr19:40779200-40782200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr19:40779400-40780200	Enhancers	Primary T cells from cord blood	blood
50	chr19:40779400-40780200	Enhancers	GM12878-XiMat	blood

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