Variant report

Variant	rs1528149
Chromosome Location	chr7:16107358-16107359
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	chr7:16097119..16099277-chr7:16107304..16109776,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1527220	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1528136	0.86[ASN][1000 genomes]
rs1528147	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17285792	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17286418	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17357253	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17357511	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17358277	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17359183	0.86[ASN][1000 genomes]
rs17359294	0.86[ASN][1000 genomes]
rs1918259	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap]
rs2389581	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28422957	0.86[EUR][1000 genomes]
rs3857708	0.82[ASN][1000 genomes]
rs3857709	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4621696	0.82[ASN][1000 genomes]
rs56290213	1.00[ASN][1000 genomes]
rs60333130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62439474	0.86[ASN][1000 genomes]
rs62440849	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62440852	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62440855	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62442360	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62442361	0.81[AMR][1000 genomes]
rs6952865	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73056339	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs740823	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778438	1.00[CHB][hapmap]
rs987932	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription 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 target site	56 gene(s)	inside rSNPs	diseases
2	nsv949309	chr7:15986709-16236162	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949555	chr7:16078412-16279290	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1528149	RXFP1	trans	cerebellum	SCAN
rs1528149	WDR11	trans	cerebellum	SCAN
rs1528149	ANKMY2	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16102000-16113200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:16103600-16114800	Weak transcription	Fetal Heart	heart
3	chr7:16104200-16107400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:16104200-16108000	Weak transcription	Left Ventricle	heart
5	chr7:16105200-16107600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:16105400-16108000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:16105800-16107800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:16105800-16107800	Enhancers	HUVEC	blood vessel
9	chr7:16105800-16108000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:16106000-16107400	Enhancers	Stomach Smooth Muscle	stomach
11	chr7:16106000-16107600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr7:16106000-16107800	Enhancers	Osteobl	bone
13	chr7:16106200-16107400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:16106200-16107600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr7:16106200-16107600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:16106200-16107800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:16106200-16107800	Active TSS	Right Atrium	heart
18	chr7:16106200-16108000	Enhancers	Liver	Liver
19	chr7:16106200-16108000	Enhancers	Brain Germinal Matrix	brain
20	chr7:16106200-16108200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:16106200-16108200	Enhancers	Adipose Nuclei	Adipose
22	chr7:16106200-16108400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:16106400-16107600	Active TSS	Brain Anterior Caudate	brain
24	chr7:16106400-16107800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:16106400-16107800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:16106400-16108000	Enhancers	Fetal Stomach	stomach
27	chr7:16106600-16107400	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:16106600-16107600	Active TSS	Brain Angular Gyrus	brain
29	chr7:16106600-16107600	Enhancers	NHLF	lung
30	chr7:16106600-16107800	Enhancers	HSMM	muscle
31	chr7:16106600-16108000	Enhancers	Brain Substantia Nigra	brain
32	chr7:16106600-16108000	Enhancers	HSMMtube	muscle
33	chr7:16106800-16107400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:16106800-16107600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:16106800-16107600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr7:16106800-16107600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr7:16106800-16108200	Enhancers	Fetal Muscle Leg	muscle
38	chr7:16106800-16108200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr7:16107000-16107600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:16107000-16107800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:16107000-16108000	Enhancers	Brain Cingulate Gyrus	brain
42	chr7:16107000-16108000	Enhancers	Colon Smooth Muscle	Colon
43	chr7:16107000-16108000	Weak transcription	Fetal Brain Female	brain
44	chr7:16107000-16108000	Enhancers	NHDF-Ad	bronchial
45	chr7:16107000-16108200	Enhancers	Fetal Lung	lung
46	chr7:16107000-16111000	Weak transcription	Stomach Mucosa	stomach
47	chr7:16107200-16107400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:16107200-16107400	Active TSS	Psoas Muscle	Psoas
49	chr7:16107200-16107600	Active TSS	Ovary	ovary

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