Variant report

Variant	rs11872226
Chromosome Location	chr18:9835419-9835420
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr18:9835201-9835902	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr18:9835218-9836111	ECC-1	luminal epithelium:	n/a	n/a
3	TEAD4	chr18:9835313-9835768	H1-hESC	embryonic stem cell:	n/a	n/a
4	GATA3	chr18:9835050-9835692	T-47D	breast:	n/a	n/a
5	SP1	chr18:9835206-9835804	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr18:9835252-9835631	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF12	chr18:9835273-9835730	ECC-1	luminal epithelium:	n/a	n/a
8	TEAD4	chr18:9835233-9836259	ECC-1	luminal epithelium:	n/a	n/a
9	EP300	chr18:9835154-9836275	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr18:9835390-9835814	H1-neurons	neurons:	n/a	n/a
11	TEAD4	chr18:9835224-9835749	ECC-1	luminal epithelium:	n/a	n/a
12	SP1	chr18:9835135-9835797	H1-hESC	embryonic stem cell:	n/a	n/a
13	ESR1	chr18:9835373-9835692	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr18:9835369-9835720	H1-hESC	embryonic stem cell:	n/a	n/a
15	TCF12	chr18:9835173-9835914	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:9835315..9836905-chr18:9908815..9911185,2	K562	blood:
2	chr18:9831165..9832828-chr18:9833796..9836130,2	MCF-7	breast:
3	chr18:9833804..9836149-chr18:9912449..9915567,3	K562	blood:

No data

Variant related genes	Relation type
RN7SL862P	TF binding region
ENSG00000272799	Chromatin interaction
ENSG00000101558	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10048278	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11875078	0.89[EUR][1000 genomes]
rs12958417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215498	1.00[CHB][hapmap]
rs34797558	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35024660	0.90[EUR][1000 genomes]
rs35732254	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62081240	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8082842	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
4	esv2761989	chr18:9834599-9837639	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11872226	KIAA0802	cis	parietal	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9825400-9849800	Weak transcription	Gastric	stomach
2	chr18:9827800-9837800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr18:9828400-9835600	Weak transcription	Fetal Heart	heart
4	chr18:9828400-9838400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr18:9828400-9846000	Weak transcription	Pancreas	Pancrea
6	chr18:9828600-9838000	Weak transcription	HSMMtube	muscle
7	chr18:9829000-9838000	Weak transcription	HSMM	muscle
8	chr18:9829000-9841600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:9829000-9845200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:9829000-9848200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr18:9829400-9838000	Weak transcription	NH-A	brain
12	chr18:9829600-9838800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr18:9829600-9846600	Weak transcription	NHDF-Ad	bronchial
14	chr18:9830400-9839400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr18:9831200-9847200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr18:9831400-9835600	Strong transcription	Hela-S3	cervix
17	chr18:9831600-9852400	Weak transcription	A549	lung
18	chr18:9831800-9836200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:9831800-9845200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:9832000-9836600	Weak transcription	Left Ventricle	heart
21	chr18:9832000-9838000	Weak transcription	Aorta	Aorta
22	chr18:9832200-9836600	Weak transcription	Right Atrium	heart
23	chr18:9832400-9846600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:9832800-9836600	Weak transcription	Lung	lung
25	chr18:9832800-9837800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:9832800-9845000	Weak transcription	Osteobl	bone
27	chr18:9832800-9865000	Weak transcription	Spleen	Spleen
28	chr18:9833000-9846400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:9833200-9836000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr18:9833200-9838200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr18:9833200-9842200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr18:9833400-9838000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr18:9833400-9838200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr18:9833400-9839400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:9833600-9838200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr18:9834000-9836800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:9834200-9837400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr18:9834600-9836200	Enhancers	Placenta	Placenta
39	chr18:9834600-9847400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr18:9834800-9836200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr18:9834800-9836200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr18:9834800-9836600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr18:9834800-9837000	Enhancers	Esophagus	oesophagus
44	chr18:9834800-9837200	Enhancers	Stomach Smooth Muscle	stomach
45	chr18:9834800-9838200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr18:9834800-9838800	Enhancers	Fetal Muscle Leg	muscle
47	chr18:9835000-9835600	Enhancers	K562	blood
48	chr18:9835000-9835800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr18:9835000-9835800	Enhancers	Fetal Stomach	stomach
50	chr18:9835000-9836000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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