Variant report

Variant	rs7866988
Chromosome Location	chr9:71445709-71445710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11143615	0.84[ASN][1000 genomes]
rs11143622	0.90[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs11143638	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11143694	0.87[ASN][1000 genomes]
rs11143732	0.88[ASN][1000 genomes]
rs11143833	0.80[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs11143868	0.88[JPT][hapmap]
rs11143893	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11143900	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11143991	0.83[ASN][1000 genomes]
rs11143995	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11143997	0.98[ASN][1000 genomes]
rs11144059	0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs11144102	0.80[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs11144115	0.86[ASN][1000 genomes]
rs11144174	0.88[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1414955	0.87[AMR][1000 genomes]
rs6560369	0.81[ASN][1000 genomes]
rs7043816	0.90[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]

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	nsv1050741	chr9:71405224-71450033	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv540148	chr9:71405224-71450033	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71425000-71448600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr9:71433400-71449000	Weak transcription	HepG2	liver
3	chr9:71435800-71464800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:71437400-71448200	Weak transcription	Lung	lung
5	chr9:71437600-71453200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr9:71438000-71447400	Weak transcription	Aorta	Aorta
7	chr9:71438000-71447400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr9:71438000-71491200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:71439200-71456000	Weak transcription	GM12878-XiMat	blood
10	chr9:71440600-71466600	Weak transcription	Gastric	stomach
11	chr9:71441000-71478600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:71441200-71447200	Weak transcription	Primary B cells from cord blood	blood
13	chr9:71441400-71447000	Weak transcription	Stomach Mucosa	stomach
14	chr9:71441600-71459800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr9:71443200-71447400	Weak transcription	Right Atrium	heart
16	chr9:71443200-71447400	Weak transcription	Right Ventricle	heart
17	chr9:71443600-71447000	Weak transcription	K562	blood
18	chr9:71443600-71451800	Weak transcription	Left Ventricle	heart
19	chr9:71443600-71458600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr9:71443600-71459000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr9:71444000-71446000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr9:71444000-71446000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:71444200-71445800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:71444400-71445800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr9:71444400-71446000	Enhancers	Brain Germinal Matrix	brain
26	chr9:71444600-71445800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:71444600-71448600	Enhancers	Fetal Heart	heart
28	chr9:71444800-71445800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr9:71444800-71445800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:71444800-71446000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:71445000-71445800	Enhancers	Fetal Brain Female	brain
32	chr9:71445200-71445800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr9:71445200-71445800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr9:71445200-71445800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr9:71445200-71445800	Enhancers	Fetal Muscle Leg	muscle
36	chr9:71445200-71446200	Strong transcription	Fetal Intestine Small	intestine
37	chr9:71445400-71445800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:71445400-71445800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr9:71445600-71445800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr9:71445600-71445800	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr9:71445600-71449000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:71445600-71454400	Weak transcription	Fetal Intestine Large	intestine
43	chr9:71445600-71458600	Weak transcription	Primary hematopoietic stem cells	blood

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