Variant report

Variant	rs1023870
Chromosome Location	chr18:9738261-9738262
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	POLR2A	chr18:9737204-9738978	Hela-S3	cervix:	n/a	n/a
2	NFIC	chr18:9736753-9738325	ECC-1	luminal epithelium:	n/a	chr18:9737966-9737983
3	POLR2A	chr18:9737825-9738311	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr18:9737178-9738333	H1-neurons	neurons:	n/a	n/a
5	CEBPB	chr18:9738085-9738266	HepG2	liver:	n/a	chr18:9738199-9738210
6	NFIC	chr18:9737532-9738336	ECC-1	luminal epithelium:	n/a	chr18:9737966-9737983
7	CEBPB	chr18:9738068-9738322	IMR90	lung:	n/a	chr18:9738199-9738210
8	REST	chr18:9737189-9738508	H1-neurons	neurons:	n/a	chr18:9738083-9738096
9	MXI1	chr18:9736517-9738480	SK-N-SH	brain:	n/a	chr18:9738007-9738022
10	GATA2	chr18:9736970-9738261	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9729977..9732363-chr18:9736076..9738705,2	MCF-7	breast:
2	chr18:9703929..9707573-chr18:9737119..9740388,3	K562	blood:
3	chr18:9729801..9734726-chr18:9735904..9739407,5	K562	blood:

Variant related genes	Relation type
ENSG00000266891	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1023869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1116700	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1455585	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2045230	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2045231	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2045233	0.88[ASN][1000 genomes]
rs2864780	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4798836	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4798837	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4798844	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6506686	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8084104	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8086347	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8087630	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8088290	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9949632	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9720000-9742000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr18:9721000-9741600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:9732600-9741600	Weak transcription	Ovary	ovary
4	chr18:9732800-9740800	Weak transcription	Adipose Nuclei	Adipose
5	chr18:9732800-9741600	Weak transcription	Colon Smooth Muscle	Colon
6	chr18:9733000-9742000	Weak transcription	Aorta	Aorta
7	chr18:9733000-9743600	Weak transcription	Gastric	stomach
8	chr18:9733800-9742000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr18:9734400-9741600	Weak transcription	Right Atrium	heart
10	chr18:9734400-9741800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr18:9734400-9741800	Weak transcription	Fetal Lung	lung
12	chr18:9734600-9739600	Weak transcription	Esophagus	oesophagus
13	chr18:9734600-9741600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr18:9734600-9741600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr18:9734600-9741600	Weak transcription	Spleen	Spleen
16	chr18:9734600-9741800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr18:9734800-9741400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr18:9734800-9742000	Weak transcription	Stomach Mucosa	stomach
19	chr18:9734800-9742200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr18:9735000-9741600	Weak transcription	Colonic Mucosa	Colon
21	chr18:9735400-9740400	Genic enhancers	Hela-S3	cervix
22	chr18:9735600-9740800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:9735600-9741400	Weak transcription	Lung	lung
24	chr18:9735600-9741800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr18:9735800-9740800	Weak transcription	Placenta	Placenta
26	chr18:9736000-9741600	Weak transcription	Fetal Muscle Leg	muscle
27	chr18:9736000-9741800	Weak transcription	Fetal Stomach	stomach
28	chr18:9736200-9738400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:9736200-9739400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:9736200-9739600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr18:9736200-9740200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr18:9736200-9741600	Weak transcription	Primary B cells from cord blood	blood
33	chr18:9736200-9742000	Weak transcription	Fetal Thymus	thymus
34	chr18:9736400-9738400	Enhancers	NHDF-Ad	bronchial
35	chr18:9736400-9738600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr18:9736400-9738800	Enhancers	Fetal Brain Male	brain
37	chr18:9736400-9739000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr18:9736600-9738400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr18:9736600-9741400	Weak transcription	HepG2	liver
40	chr18:9736600-9741800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr18:9736600-9741800	Weak transcription	Small Intestine	intestine
42	chr18:9737000-9738600	Enhancers	K562	blood
43	chr18:9737200-9738400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr18:9737200-9738400	Enhancers	HSMM	muscle
45	chr18:9737200-9738600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr18:9737200-9738600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr18:9737200-9738600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr18:9737200-9738600	Enhancers	Brain Cingulate Gyrus	brain
49	chr18:9737200-9738800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr18:9737400-9738800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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