Variant report

Variant	rs11143985
Chromosome Location	chr9:71459247-71459248
allele	A/G
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	CEBPB	chr9:71459217-71459475	IMR90	lung:	n/a	chr9:71459303-71459314
2	CEBPB	chr9:71459130-71459459	K562	blood:	n/a	chr9:71459303-71459314
3	CEBPB	chr9:71459165-71459482	HepG2	liver:	n/a	chr9:71459303-71459314
4	CEBPB	chr9:71459238-71459443	A549	lung:	n/a	chr9:71459303-71459314
5	SPI1	chr9:71459053-71459577	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000236733	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11143900	0.83[YRI][hapmap]
rs12336555	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12339863	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12340199	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12341486	0.96[AFR][1000 genomes]
rs12346502	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12349732	0.96[AFR][1000 genomes]
rs7038183	1.00[CEU][hapmap]
rs7038200	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv6548	chr9:71429527-71470917	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv466393	chr9:71453443-71704827	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv614547	chr9:71453443-71704827	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71435800-71464800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:71438000-71491200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:71440600-71466600	Weak transcription	Gastric	stomach
4	chr9:71441000-71478600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:71441600-71459800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr9:71448200-71485600	Weak transcription	Stomach Mucosa	stomach
7	chr9:71455800-71459400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr9:71456800-71460000	Strong transcription	Fetal Intestine Small	intestine
9	chr9:71456800-71460600	Enhancers	Left Ventricle	heart
10	chr9:71457200-71459400	Weak transcription	Brain Hippocampus Middle	brain
11	chr9:71457400-71459800	Weak transcription	Fetal Heart	heart
12	chr9:71458000-71459600	Enhancers	Lung	lung
13	chr9:71458000-71459800	Weak transcription	Aorta	Aorta
14	chr9:71458200-71466200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:71458400-71459600	Enhancers	Right Ventricle	heart
16	chr9:71458400-71459800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr9:71458400-71459800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:71458400-71460800	Enhancers	GM12878-XiMat	blood
19	chr9:71458600-71459400	Enhancers	Primary hematopoietic stem cells	blood
20	chr9:71458600-71459800	Enhancers	Primary B cells from peripheral blood	blood
21	chr9:71458600-71460400	Enhancers	K562	blood
22	chr9:71458600-71460600	Enhancers	Brain Anterior Caudate	brain
23	chr9:71458600-71464200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:71458800-71460400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr9:71458800-71460600	Enhancers	Right Atrium	heart
26	chr9:71458800-71460600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr9:71458800-71465000	Weak transcription	Fetal Intestine Large	intestine
28	chr9:71459000-71459400	Weak transcription	Brain Angular Gyrus	brain
29	chr9:71459000-71459400	Enhancers	Duodenum Mucosa	Duodenum
30	chr9:71459000-71460200	Enhancers	Brain Cingulate Gyrus	brain
31	chr9:71459000-71466600	Weak transcription	Pancreas	Pancrea
32	chr9:71459000-71519200	Weak transcription	Colonic Mucosa	Colon
33	chr9:71459200-71459400	Active TSS	Primary B cells from cord blood	blood
34	chr9:71459200-71459400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr9:71459200-71459800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:71459200-71459800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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