Variant report

Variant	rs6415731
Chromosome Location	chr9:19098712-19098713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:19095545..19097905-chr9:19098403..19100459,2	K562	blood:
2	chr9:19098429..19101130-chr9:19101314..19102834,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1006120	0.82[ASW][hapmap]
rs10122088	0.93[CEU][hapmap]
rs10757026	0.81[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12349207	0.87[CEU][hapmap]
rs2171956	0.93[EUR][1000 genomes]
rs2291503	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];0.82[LWK][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4977280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4977488	0.81[EUR][1000 genomes]
rs4977491	0.85[EUR][1000 genomes]
rs6475272	0.82[ASW][hapmap]
rs6475303	0.80[CEU][hapmap]
rs7042340	0.95[EUR][1000 genomes]
rs7042382	0.86[CEU][hapmap]
rs7048069	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7858618	0.84[ASW][hapmap]
rs9298798	0.84[ASW][hapmap];1.00[CEU][hapmap];0.93[CHD][hapmap];0.88[LWK][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv430003	chr9:19074740-19247826	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv870340	chr9:19077714-19143230	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1018947	chr9:19094894-19394712	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6415731	ADFP	Cis_1M	lymphoblastoid	RTeQTL
rs6415731	PLIN2	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19051600-19101400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:19054800-19100800	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:19056000-19101200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:19062000-19102200	Weak transcription	Stomach Mucosa	stomach
5	chr9:19066800-19100400	Weak transcription	Fetal Heart	heart
6	chr9:19066800-19100800	Weak transcription	Small Intestine	intestine
7	chr9:19071200-19101200	Weak transcription	Psoas Muscle	Psoas
8	chr9:19077400-19102200	Weak transcription	Gastric	stomach
9	chr9:19079200-19099600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:19079600-19101200	Weak transcription	Ovary	ovary
11	chr9:19085400-19101200	Weak transcription	Colonic Mucosa	Colon
12	chr9:19086600-19102200	Weak transcription	Aorta	Aorta
13	chr9:19089600-19102000	Weak transcription	HSMMtube	muscle
14	chr9:19089800-19101800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:19090000-19101200	Weak transcription	Right Atrium	heart
16	chr9:19090200-19101200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:19091200-19101200	Weak transcription	Esophagus	oesophagus
18	chr9:19091600-19099600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:19091600-19102000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr9:19091800-19100800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:19091800-19102000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:19092400-19100200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr9:19092400-19100800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr9:19092400-19101200	Weak transcription	Colon Smooth Muscle	Colon
25	chr9:19092400-19101200	Weak transcription	Fetal Brain Female	brain
26	chr9:19092600-19100800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr9:19093400-19100800	Weak transcription	Fetal Brain Male	brain
28	chr9:19093600-19100200	Weak transcription	K562	blood
29	chr9:19093600-19100400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:19093600-19100400	Weak transcription	NHEK	skin
31	chr9:19093800-19100600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:19093800-19101200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:19093800-19101200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:19093800-19101200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:19093800-19101200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:19093800-19101200	Weak transcription	Left Ventricle	heart
37	chr9:19093800-19101200	Weak transcription	Lung	lung
38	chr9:19093800-19101200	Weak transcription	Pancreas	Pancrea
39	chr9:19093800-19101200	Weak transcription	Right Ventricle	heart
40	chr9:19093800-19101200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr9:19093800-19101200	Weak transcription	Spleen	Spleen
42	chr9:19093800-19101200	Weak transcription	NHLF	lung
43	chr9:19093800-19101400	Weak transcription	Brain Angular Gyrus	brain
44	chr9:19093800-19101800	Weak transcription	Fetal Kidney	kidney
45	chr9:19093800-19102000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr9:19093800-19102200	Weak transcription	Brain Substantia Nigra	brain
47	chr9:19094200-19099200	Weak transcription	Fetal Muscle Leg	muscle
48	chr9:19094200-19099400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr9:19094200-19099400	Weak transcription	Fetal Stomach	stomach
50	chr9:19094200-19100600	Weak transcription	Brain Hippocampus Middle	brain

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