Variant report

Variant	rs8105530
Chromosome Location	chr19:55839272-55839273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:55838840-55839374	MCF-7	breast:	n/a	n/a
2	JUND	chr19:55838841-55839312	Hela-S3	cervix:	n/a	n/a
3	SMARCC1	chr19:55838917-55839370	Hela-S3	cervix:	n/a	n/a
4	EP300	chr19:55838890-55839356	Hela-S3	cervix:	n/a	n/a
5	STAT3	chr19:55838919-55839308	Hela-S3	cervix:	n/a	n/a
6	JUND	chr19:55838783-55839306	A549	lung:	n/a	n/a
7	GATA3	chr19:55838839-55839394	MCF-7	breast:	n/a	n/a
8	SMC3	chr19:55838887-55839336	Hela-S3	cervix:	n/a	n/a
9	HDAC2	chr19:55838984-55839330	MCF-7	breast:	n/a	n/a
10	GTF2F1	chr19:55838929-55839302	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr19:55838882-55839353	Hela-S3	cervix:	n/a	n/a
12	FOSL2	chr19:55838816-55839277	A549	lung:	n/a	n/a
13	TCF12	chr19:55838780-55839444	A549	lung:	n/a	n/a
14	RAD21	chr19:55838932-55839300	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr19:55839140-55839290	SAEC	small airway:	n/a	n/a
16	TBP	chr19:55838874-55839289	Hela-S3	cervix:	n/a	n/a
17	RFX5	chr19:55839085-55839365	K562	blood:	n/a	n/a
18	REST	chr19:55838840-55839356	A549	lung:	n/a	n/a
19	REST	chr19:55838773-55839326	A549	lung:	n/a	n/a
20	RAD21	chr19:55838913-55839402	MCF-7	breast:	n/a	n/a
21	TCF7L2	chr19:55838857-55839290	Hela-S3	cervix:	n/a	n/a
22	MAX	chr19:55838787-55839283	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr19:55838995-55839373	A549	lung:	n/a	n/a
24	FOSL2	chr19:55838697-55839436	A549	lung:	n/a	n/a
25	RFX5	chr19:55838838-55839894	Hela-S3	cervix:	n/a	chr19:55839776-55839791
26	MAX	chr19:55838869-55839304	Hela-S3	cervix:	n/a	n/a
27	FOXA1	chr19:55838801-55839295	T-47D	breast:	n/a	n/a
28	REST	chr19:55838948-55839301	MCF-7	breast:	n/a	n/a
29	MAX	chr19:55838790-55839873	A549	lung:	n/a	n/a
30	FOXA2	chr19:55838786-55839385	A549	lung:	n/a	n/a
31	EP300	chr19:55838911-55839318	T-47D	breast:	n/a	n/a
32	SP1	chr19:55838749-55839435	A549	lung:	n/a	n/a
33	NR2F2	chr19:55838874-55839352	MCF-7	breast:	n/a	n/a
34	EP300	chr19:55838756-55839374	A549	lung:	n/a	n/a
35	GATA3	chr19:55838868-55839300	T-47D	breast:	n/a	n/a
36	JUND	chr19:55838805-55839292	A549	lung:	n/a	n/a
37	RAD21	chr19:55838878-55839296	A549	lung:	n/a	n/a
38	FOS	chr19:55838844-55839339	Hela-S3	cervix:	n/a	n/a
39	MAX	chr19:55838824-55839392	A549	lung:	n/a	n/a
40	FOSL2	chr19:55838872-55839286	MCF-7	breast:	n/a	n/a
41	JUND	chr19:55838849-55839356	MCF-7	breast:	n/a	n/a
42	SP1	chr19:55838725-55839425	A549	lung:	n/a	n/a
43	CEBPB	chr19:55839029-55839349	HepG2	liver:	n/a	n/a
44	RFX5	chr19:55838786-55841576	SK-N-SH	brain:	n/a	chr19:55840463-55840478 chr19:55839776-55839791
45	TCF12	chr19:55838872-55839348	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:55838827..55840527-chr19:55846643..55849753,3	MCF-7	breast:
2	chr19:55837505..55841740-chr19:55848603..55850445,4	MCF-7	breast:
3	chr19:55837658..55839461-chr19:55896051..55898091,2	MCF-7	breast:
4	chr19:55839054..55840780-chr19:55917787..55919517,2	MCF-7	breast:
5	chr19:55726058..55728371-chr19:55838067..55840514,2	K562	blood:

No data

Variant related genes	Relation type
TMEM150B	TF binding region
ENSG00000108106	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000267649	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12610863	0.82[JPT][hapmap]
rs1870073	0.82[JPT][hapmap]
rs4806663	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8113016	0.83[JPT][hapmap];0.83[MEX][hapmap];0.80[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
5	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
6	nsv912459	chr19:55791380-55845386	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
8	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8105530	RPS5	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55813600-55850000	Weak transcription	Right Atrium	heart
2	chr19:55836800-55839800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr19:55836800-55848400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:55838200-55843200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr19:55838600-55839600	Enhancers	Fetal Intestine Small	intestine
6	chr19:55838800-55839400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:55838800-55839400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr19:55838800-55839400	Enhancers	Pancreas	Pancrea
9	chr19:55838800-55839600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr19:55838800-55839800	Enhancers	Fetal Intestine Large	intestine
11	chr19:55839000-55839400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:55839000-55839400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:55839000-55839400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:55839000-55839400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:55839000-55839400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:55839000-55839400	Flanking Active TSS	A549	lung
17	chr19:55839000-55839400	Flanking Active TSS	Hela-S3	cervix
18	chr19:55839000-55839400	Enhancers	HMEC	breast
19	chr19:55839000-55839400	Enhancers	HSMM	muscle
20	chr19:55839000-55839400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr19:55839000-55839400	Enhancers	NH-A	brain
22	chr19:55839000-55839800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:55839000-55839800	Flanking Active TSS	HepG2	liver
24	chr19:55839000-55839800	Enhancers	HSMMtube	muscle
25	chr19:55839000-55839800	Enhancers	K562	blood
26	chr19:55839200-55839400	Enhancers	Duodenum Mucosa	Duodenum
27	chr19:55839200-55839800	Enhancers	Stomach Mucosa	stomach
28	chr19:55839200-55839800	Enhancers	Osteobl	bone
29	chr19:55839200-55842400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr19:55839200-55843200	Weak transcription	Adipose Nuclei	Adipose
31	chr19:55839200-55850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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