Variant report

Variant	rs1685192
Chromosome Location	chr19:44283216-44283217
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr19:44282811-44283363	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:44280377-44284435	GM12878	blood:	n/a	n/a
3	STAT5A	chr19:44282730-44283830	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:44282657-44284379	HL-60	blood:	n/a	n/a
5	RCOR1	chr19:44282814-44284372	K562	blood:	n/a	n/a
6	POLR2A	chr19:44283214-44284391	HL-60	blood:	n/a	n/a
7	WRNIP1	chr19:44282851-44284495	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:44282699-44284463	GM18505	blood:	n/a	n/a
9	CHD2	chr19:44282867-44284408	GM12878	blood:	n/a	n/a
10	PML	chr19:44282967-44284488	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:44282671-44284425	GM12891	blood:	n/a	n/a
12	POLR2A	chr19:44282566-44285595	GM12878	blood:	n/a	n/a
13	TBP	chr19:44282875-44283225	K562	blood:	n/a	n/a
14	STAT5A	chr19:44283067-44283529	GM12878	blood:	n/a	n/a
15	MTA3	chr19:44282570-44284543	GM12878	blood:	n/a	n/a
16	ATF3	chr19:44282903-44283324	K562	blood:	n/a	n/a
17	POLR2A	chr19:44283197-44283934	GM12892	blood:	n/a	n/a
18	EBF1	chr19:44282727-44283736	GM12878	blood:	n/a	chr19:44282929-44282938 chr19:44282966-44282977
19	CHD1	chr19:44282816-44283729	GM12878	blood:	n/a	n/a
20	RUNX3	chr19:44283157-44283536	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:44282833-44284373	GM19193	blood:	n/a	n/a
22	POLR2A	chr19:44282770-44284490	GM12878	blood:	n/a	n/a
23	RPC155	chr19:44282935-44283474	K562	blood:	n/a	n/a
24	MAZ	chr19:44282811-44284539	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44228240..44229809-chr19:44281869..44283736,2	K562	blood:
2	chr19:44258057..44261358-chr19:44282388..44285287,3	MCF-7	breast:
3	chr19:44256760..44265122-chr19:44281375..44290996,18	K562	blood:
4	chr19:44270398..44273910-chr19:44281864..44284268,4	K562	blood:
5	chr19:44273760..44276209-chr19:44281232..44283359,2	MCF-7	breast:
6	chr19:44256077..44259725-chr19:44281509..44284317,6	MCF-7	breast:

No data

Variant related genes	Relation type
KCNN4	TF binding region
ENSG00000105771	Chromatin interaction
ENSG00000104783	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11666403	0.81[EUR][1000 genomes]
rs12611069	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3786956	0.91[EUR][1000 genomes]
rs541789	0.80[EUR][1000 genomes]
rs62114559	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62116989	0.83[EUR][1000 genomes]
rs62116994	0.81[EUR][1000 genomes]
rs62116995	0.81[EUR][1000 genomes]
rs62116996	0.81[EUR][1000 genomes]
rs62116997	0.81[EUR][1000 genomes]
rs62116998	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1685192	AC115522.3	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44278200-44283800	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr19:44278800-44283400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr19:44279800-44283400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr19:44279800-44283600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr19:44279800-44283600	Weak transcription	Small Intestine	intestine
6	chr19:44280600-44284200	Enhancers	NHEK	skin
7	chr19:44280800-44283600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr19:44280800-44284200	Weak transcription	Gastric	stomach
9	chr19:44280800-44284800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:44280800-44285800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr19:44281000-44283400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:44281000-44284600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr19:44281200-44283400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:44281200-44283800	Enhancers	NH-A	brain
15	chr19:44281200-44284400	Enhancers	HUVEC	blood vessel
16	chr19:44281200-44285600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:44281400-44283400	Enhancers	Brain Hippocampus Middle	brain
18	chr19:44281400-44283600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr19:44281400-44287000	Enhancers	Spleen	Spleen
20	chr19:44281600-44283400	Enhancers	Fetal Muscle Leg	muscle
21	chr19:44281800-44283600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:44281800-44283800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:44281800-44284200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:44281800-44284400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr19:44281800-44285400	Active TSS	Rectal Smooth Muscle	rectum
26	chr19:44281800-44285600	Enhancers	Fetal Intestine Large	intestine
27	chr19:44282000-44283800	Enhancers	Adipose Nuclei	Adipose
28	chr19:44282000-44285600	Enhancers	Lung	lung
29	chr19:44282200-44283400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:44282200-44283400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:44282200-44283400	Weak transcription	Fetal Intestine Small	intestine
32	chr19:44282200-44283400	Weak transcription	Osteobl	bone
33	chr19:44282200-44283600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:44282200-44283600	Enhancers	A549	lung
35	chr19:44282200-44283600	Weak transcription	HSMM	muscle
36	chr19:44282200-44284800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:44282200-44286800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:44282400-44283400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:44282400-44283400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:44282400-44283600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:44282400-44283600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:44282400-44283600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr19:44282400-44283600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr19:44282400-44283600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr19:44282400-44283600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:44282400-44283600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:44282400-44283600	Weak transcription	HSMMtube	muscle
48	chr19:44282400-44283800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:44282400-44283800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:44282400-44283800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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