Variant report

Variant	rs944223
Chromosome Location	chr9:117823775-117823776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10123436	0.97[ASN][1000 genomes]
rs10759753	0.96[EUR][1000 genomes]
rs10817705	0.97[ASN][1000 genomes]
rs1330363	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1330364	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1411456	1.00[CEU][hapmap];0.86[JPT][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs1411461	1.00[CEU][hapmap];0.86[JPT][hapmap];0.97[EUR][1000 genomes]
rs1537017	1.00[CEU][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes]
rs1547691	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1547692	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1854707	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1888221	0.83[TSI][hapmap]
rs1888222	0.87[ASN][1000 genomes]
rs2009023	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2104772	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2210108	0.88[EUR][1000 genomes]
rs2297180	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3789870	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs3789872	0.90[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3789873	0.94[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4460459	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6478127	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6478128	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7027148	0.95[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs7030164	1.00[CEU][hapmap];0.86[JPT][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs7032224	0.88[EUR][1000 genomes]
rs7035322	0.87[TSI][hapmap]
rs7875852	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs944226	1.00[CEU][hapmap];0.86[JPT][hapmap];0.97[EUR][1000 genomes]
rs953288	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs955450	0.90[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831696	chr9:117701582-117874150	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117782400-117848200	Weak transcription	Brain Substantia Nigra	brain
2	chr9:117791600-117833200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:117800800-117825000	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:117800800-117825200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:117802200-117848200	Weak transcription	Spleen	Spleen
6	chr9:117803600-117825400	Weak transcription	Fetal Kidney	kidney
7	chr9:117809000-117825400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:117810600-117825000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:117812800-117825800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:117812800-117830600	Weak transcription	Fetal Lung	lung
11	chr9:117813200-117825000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:117815200-117825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:117815400-117859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:117816000-117825200	Weak transcription	Esophagus	oesophagus
15	chr9:117816800-117825000	Strong transcription	Stomach Smooth Muscle	stomach
16	chr9:117817800-117850600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:117819200-117827400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr9:117819400-117825800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:117819800-117848000	Weak transcription	Fetal Intestine Small	intestine
20	chr9:117820200-117824600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:117821200-117824000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:117821400-117825000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr9:117821400-117840200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr9:117821800-117825200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:117821800-117825800	Weak transcription	HSMM	muscle
26	chr9:117822000-117826000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr9:117822200-117825000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:117822200-117825200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:117822400-117824000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:117822400-117825000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:117822400-117825200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr9:117822400-117825400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:117822400-117854400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:117822600-117824600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:117822600-117824600	Weak transcription	Fetal Stomach	stomach
36	chr9:117822600-117825200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:117822800-117825000	Weak transcription	NHLF	lung
38	chr9:117822800-117825400	Weak transcription	Fetal Intestine Large	intestine
39	chr9:117822800-117825400	Strong transcription	NHDF-Ad	bronchial
40	chr9:117822800-117825400	Strong transcription	Osteobl	bone
41	chr9:117823000-117825200	Strong transcription	Colon Smooth Muscle	Colon
42	chr9:117823000-117826200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr9:117823200-117823800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr9:117823200-117825800	Strong transcription	NH-A	brain
45	chr9:117823200-117828000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:117823400-117823800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:117823400-117824200	Enhancers	Aorta	Aorta
48	chr9:117823400-117825200	Weak transcription	NHEK	skin
49	chr9:117823600-117825400	Weak transcription	HMEC	breast
50	chr9:117823600-117826000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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