Variant report

Variant	rs1344007
Chromosome Location	chr9:18977755-18977756
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:18975628..18978246-chr9:18981249..18983402,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1006120	0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs10738524	0.81[ASN][1000 genomes]
rs10757012	0.81[ASN][1000 genomes]
rs10811080	0.82[CHB][hapmap]
rs10811082	0.83[CHB][hapmap]
rs10963897	0.81[CHB][hapmap]
rs11496357	0.82[ASN][1000 genomes]
rs12352657	0.83[CHB][hapmap]
rs12352756	0.86[CHB][hapmap]
rs12686643	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1932445	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs1932448	0.95[CHB][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1932449	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2039008	0.82[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs2039010	0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2039011	0.82[JPT][hapmap]
rs4278231	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4977269	0.82[ASN][1000 genomes]
rs4977270	0.82[ASN][1000 genomes]
rs4977273	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs4977478	0.82[ASN][1000 genomes]
rs4977482	0.81[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6475272	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs6475273	0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs6475274	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs6475275	0.83[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6475276	0.82[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs6475277	0.82[ASN][1000 genomes]
rs6475279	0.81[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6475293	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6475294	0.95[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6475295	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs6475296	0.86[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6475297	0.86[CEU][hapmap];0.96[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6475298	0.86[CEU][hapmap];0.95[CHB][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6475301	0.80[ASN][1000 genomes]
rs6475303	0.81[ASN][1000 genomes]
rs7022960	0.80[ASN][1000 genomes]
rs7025581	0.83[ASN][1000 genomes]
rs7028706	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs7034201	0.96[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs7036652	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7037837	0.87[CHB][hapmap]
rs7041732	0.82[ASN][1000 genomes]
rs7044864	0.83[CHB][hapmap]
rs7045203	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs7848918	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7856117	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs7858618	0.81[JPT][hapmap]
rs7867428	0.82[CHB][hapmap]
rs7871205	0.80[CHB][hapmap]
rs7871450	0.81[ASN][1000 genomes]
rs7871456	0.83[CHB][hapmap]
rs7871732	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs953734	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers 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 miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv892699	chr9:18945868-19025693	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1022697	chr9:18951530-19010894	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1344007	ADFP	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18971200-18979400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:18971200-18981600	Weak transcription	Gastric	stomach
3	chr9:18971400-18979200	Weak transcription	Right Ventricle	heart
4	chr9:18971400-18979400	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:18975000-18980600	Enhancers	Fetal Thymus	thymus
6	chr9:18975200-18979400	Weak transcription	Lung	lung
7	chr9:18976800-18979600	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:18977000-18977800	Enhancers	HSMM	muscle
9	chr9:18977000-18979400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr9:18977000-18979400	Weak transcription	Ovary	ovary
11	chr9:18977000-18979800	Weak transcription	Fetal Heart	heart
12	chr9:18977000-18980000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr9:18977000-18981400	Weak transcription	Adipose Nuclei	Adipose
14	chr9:18977000-18981400	Weak transcription	Aorta	Aorta
15	chr9:18977000-18981400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:18977000-18982200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:18977200-18977800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr9:18977200-18977800	Enhancers	NHDF-Ad	bronchial
19	chr9:18977200-18980200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:18977200-18980200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:18977200-18982200	Weak transcription	NHEK	skin
22	chr9:18977400-18977800	Enhancers	Osteobl	bone
23	chr9:18977400-18978800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:18977400-18979400	Weak transcription	HUVEC	blood vessel
25	chr9:18977400-18979400	Weak transcription	NH-A	brain
26	chr9:18977400-18979400	Weak transcription	NHLF	lung
27	chr9:18977400-18979600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:18977400-18979600	Weak transcription	Fetal Kidney	kidney
29	chr9:18977400-18979600	Weak transcription	Fetal Stomach	stomach
30	chr9:18977400-18979800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:18977400-18979800	Weak transcription	Stomach Mucosa	stomach
32	chr9:18977600-18977800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:18977600-18977800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:18977600-18979400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:18977600-18979400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:18977600-18979400	Weak transcription	Fetal Lung	lung

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