Variant report

Variant	rs951589
Chromosome Location	chr7:22223265-22223266
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10248283	0.86[CEU][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10278086	0.86[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10807810	0.87[CEU][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11772760	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs12700358	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13310201	0.95[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1476686	0.91[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1981597	0.87[GIH][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes]
rs1981601	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs3807528	0.82[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs3807532	0.82[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs4719688	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6461639	0.84[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.81[ASN][1000 genomes]
rs6957379	0.88[GIH][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs6968584	0.83[CEU][hapmap];0.83[AMR][1000 genomes]
rs7780366	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7801397	0.86[CEU][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9639424	0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606405	chr7:22202485-22235825	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs951589	NPY	cis	cerebellum	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22184600-22240600	Weak transcription	Colonic Mucosa	Colon
2	chr7:22190000-22232800	Weak transcription	Aorta	Aorta
3	chr7:22193800-22232000	Weak transcription	Adipose Nuclei	Adipose
4	chr7:22194400-22227200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:22194400-22232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:22198000-22223600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:22207000-22232000	Weak transcription	Fetal Stomach	stomach
8	chr7:22214400-22247400	Weak transcription	HUVEC	blood vessel
9	chr7:22214600-22232000	Weak transcription	Small Intestine	intestine
10	chr7:22214600-22232400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:22214800-22232600	Weak transcription	NHEK	skin
12	chr7:22215000-22226600	Weak transcription	Esophagus	oesophagus
13	chr7:22215400-22232000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:22215600-22223600	Strong transcription	Fetal Thymus	thymus
15	chr7:22217400-22229000	Weak transcription	Pancreas	Pancrea
16	chr7:22218400-22226600	Weak transcription	Fetal Intestine Large	intestine
17	chr7:22218400-22227000	Weak transcription	Spleen	Spleen
18	chr7:22218600-22227000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:22218600-22227200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:22218600-22227200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:22218600-22227200	Weak transcription	Lung	lung
22	chr7:22218600-22229000	Weak transcription	Fetal Intestine Small	intestine
23	chr7:22218800-22232000	Weak transcription	Thymus	Thymus
24	chr7:22219600-22234600	Weak transcription	Primary T cells from cord blood	blood
25	chr7:22219800-22223800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:22220200-22229600	Weak transcription	Left Ventricle	heart
27	chr7:22220400-22224200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:22220400-22226600	Weak transcription	Liver	Liver
29	chr7:22220600-22226600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:22220600-22227200	Weak transcription	Primary B cells from cord blood	blood
31	chr7:22221800-22223600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:22221800-22224000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:22221800-22224000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:22221800-22230200	Weak transcription	Fetal Brain Male	brain
35	chr7:22221800-22232400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:22221800-22233200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:22222000-22223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:22222000-22223400	Enhancers	Brain Cingulate Gyrus	brain
39	chr7:22222000-22223800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:22222000-22224000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:22222000-22224000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:22222000-22224200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:22222000-22224600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:22222000-22224800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:22222000-22227400	Weak transcription	HepG2	liver
46	chr7:22222000-22229200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:22222200-22223400	Weak transcription	Brain Substantia Nigra	brain
48	chr7:22222200-22224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:22222200-22224600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr7:22222200-22229000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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