Variant report

Variant	rs1888944
Chromosome Location	chr9:97822941-97822942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97822176..97825096-chr9:97827855..97830416,5	MCF-7	breast:
2	chr9:97626134..97628785-chr9:97822106..97824115,2	K562	blood:
3	chr9:97805422..97807754-chr9:97822770..97825763,2	MCF-7	breast:
4	chr9:97821527..97823304-chr9:97837475..97839849,2	MCF-7	breast:
5	chr9:97821556..97825075-chr9:97832512..97834984,3	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1020962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10217441	1.00[CEU][hapmap]
rs1038092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732407	1.00[CEU][hapmap]
rs10761362	1.00[CEU][hapmap]
rs10761371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993471	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12553869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12555128	1.00[JPT][hapmap]
rs12555829	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1542108	1.00[CEU][hapmap]
rs1564235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571897	0.85[CHB][hapmap];0.86[MEX][hapmap]
rs16911834	1.00[JPT][hapmap]
rs16911856	1.00[JPT][hapmap]
rs1699499	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs1871220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888945	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888946	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061799	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2061801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104888	1.00[JPT][hapmap]
rs2306207	1.00[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs242448	1.00[JPT][hapmap]
rs356660	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs356661	1.00[JPT][hapmap]
rs356685	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs356686	1.00[JPT][hapmap]
rs3739748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780560	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4332191	1.00[CEU][hapmap]
rs4743972	1.00[CEU][hapmap]
rs4743975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743978	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743989	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4744421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744429	1.00[ASN][1000 genomes]
rs4744437	1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4744440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs475413	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs6479578	1.00[CEU][hapmap]
rs6479589	0.82[MEX][hapmap]
rs6479596	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6479597	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67134693	0.96[ASN][1000 genomes]
rs7019602	1.00[CEU][hapmap]
rs7022739	0.86[MEX][hapmap];1.00[TSI][hapmap]
rs7022963	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7023719	1.00[CEU][hapmap]
rs7025100	1.00[CEU][hapmap]
rs7039768	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042271	0.88[MEX][hapmap]
rs7046900	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs72750335	0.96[ASN][1000 genomes]
rs72750346	0.96[ASN][1000 genomes]
rs72750351	0.96[ASN][1000 genomes]
rs72750359	0.96[ASN][1000 genomes]
rs72750367	1.00[ASN][1000 genomes]
rs72750373	1.00[ASN][1000 genomes]
rs73540087	1.00[ASN][1000 genomes]
rs7867856	1.00[CEU][hapmap]
rs894426	1.00[CEU][hapmap]
rs9299427	0.83[ASN][1000 genomes]

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	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1038106	chr9:97793038-97881416	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
3	nsv1038523	chr9:97797032-97923774	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
4	nsv540175	chr9:97797032-97923774	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97813000-97873000	Weak transcription	K562	blood
2	chr9:97813400-97827200	Genic enhancers	Liver	Liver
3	chr9:97815200-97824400	Weak transcription	Thymus	Thymus
4	chr9:97816000-97823000	Enhancers	Fetal Heart	heart
5	chr9:97817600-97826000	Genic enhancers	HepG2	liver
6	chr9:97817600-97826400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:97818000-97824400	Weak transcription	GM12878-XiMat	blood
8	chr9:97818200-97823000	Enhancers	Stomach Mucosa	stomach
9	chr9:97818400-97825000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr9:97818800-97830400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:97819000-97824600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:97819200-97823400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:97819200-97824200	Weak transcription	Adipose Nuclei	Adipose
14	chr9:97819200-97824400	Weak transcription	HUVEC	blood vessel
15	chr9:97819600-97824200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:97819800-97823200	Enhancers	Brain Angular Gyrus	brain
17	chr9:97819800-97824200	Weak transcription	HMEC	breast
18	chr9:97819800-97826000	Genic enhancers	HSMM	muscle
19	chr9:97820000-97823000	Enhancers	Fetal Lung	lung
20	chr9:97820000-97824600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:97820000-97854200	Weak transcription	Fetal Brain Male	brain
22	chr9:97820200-97823000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr9:97820200-97825000	Enhancers	Brain Substantia Nigra	brain
24	chr9:97820400-97825600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:97820400-97840800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:97820400-97843000	Weak transcription	Primary T cells from cord blood	blood
27	chr9:97820600-97824200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr9:97820600-97824800	Weak transcription	Fetal Kidney	kidney
29	chr9:97820600-97825600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr9:97820600-97875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr9:97820800-97823000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:97820800-97823000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr9:97820800-97823200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:97820800-97823400	Genic enhancers	Fetal Stomach	stomach
35	chr9:97821000-97824200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr9:97821000-97838400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:97821200-97823600	Enhancers	Brain Hippocampus Middle	brain
38	chr9:97821200-97823600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr9:97821200-97823600	Genic enhancers	Right Ventricle	heart
40	chr9:97821200-97824200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:97821200-97824600	Weak transcription	Spleen	Spleen
42	chr9:97821200-97839000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:97821200-97839600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:97821400-97823400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr9:97821400-97824400	Weak transcription	Brain Germinal Matrix	brain
46	chr9:97821400-97824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:97821400-97827200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:97821400-97843200	Weak transcription	Fetal Brain Female	brain
49	chr9:97821600-97823000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr9:97821600-97824400	Enhancers	Rectal Smooth Muscle	rectum

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