Variant report

Variant	rs7675866
Chromosome Location	chr4:79456060-79456061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10518200	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098208	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721380	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722061	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723383	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723415	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724180	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725388	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725573	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11727119	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727137	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728117	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728640	1.00[ASN][1000 genomes]
rs11728758	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728817	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729604	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11729705	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730601	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730636	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730668	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731012	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731315	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731480	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731575	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11733290	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733471	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736504	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932879	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933879	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11937000	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11937001	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11939230	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11939289	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940228	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11943426	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1390742	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496600	1.00[ASN][1000 genomes]
rs17003235	1.00[ASN][1000 genomes]
rs17427362	1.00[ASN][1000 genomes]
rs17429053	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17429432	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17429467	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17429649	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17429670	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17429718	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17429816	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17429963	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17430075	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17430137	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17430229	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17430243	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17430334	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17469341	0.89[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17469981	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470002	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470023	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470072	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470303	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470490	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470553	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470609	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470811	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17471069	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17471104	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17471139	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17481799	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35933858	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55849455	1.00[ASN][1000 genomes]
rs56681862	1.00[ASN][1000 genomes]
rs56874454	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57325795	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57356999	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57558056	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57771713	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58467919	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58547899	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59347621	1.00[ASN][1000 genomes]
rs59373877	1.00[ASN][1000 genomes]
rs59658562	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60805155	1.00[ASN][1000 genomes]
rs60991776	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61185935	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61346341	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72659058	1.00[ASN][1000 genomes]
rs72873310	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72873312	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72873313	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700192	0.85[EUR][1000 genomes]
rs931603	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931605	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7675866	PSTPIP1	trans	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
3	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:79401000-79467200	Weak transcription	Psoas Muscle	Psoas
5	chr4:79410200-79461800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:79428200-79466200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:79428600-79459000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:79435600-79463000	Weak transcription	Fetal Heart	heart
9	chr4:79435600-79467200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:79440600-79465800	Weak transcription	Lung	lung
11	chr4:79440600-79467200	Weak transcription	Left Ventricle	heart
12	chr4:79440800-79456200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:79442400-79465600	Weak transcription	Fetal Stomach	stomach
14	chr4:79444800-79472400	Weak transcription	Right Atrium	heart
15	chr4:79451400-79462800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:79451600-79461600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:79451800-79463400	Weak transcription	NHDF-Ad	bronchial
18	chr4:79451800-79463800	Weak transcription	NH-A	brain
19	chr4:79452000-79461600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:79453400-79464200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:79453400-79467200	Weak transcription	Placenta	Placenta
22	chr4:79453600-79457000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr4:79454200-79457600	Enhancers	HMEC	breast
24	chr4:79454400-79456800	Enhancers	NHEK	skin
25	chr4:79454600-79456800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:79454600-79456800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:79454600-79458600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:79454600-79463800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr4:79454800-79456600	Weak transcription	Primary B cells from cord blood	blood
30	chr4:79454800-79463600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:79455000-79456600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:79455000-79463400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:79455200-79456200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr4:79455200-79456200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr4:79455200-79456200	Enhancers	Brain Hippocampus Middle	brain
36	chr4:79455200-79456400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:79455200-79460400	Weak transcription	Esophagus	oesophagus
38	chr4:79455400-79456200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:79455400-79463200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:79455400-79464400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:79455600-79456200	Enhancers	Brain Substantia Nigra	brain
42	chr4:79455600-79456400	Strong transcription	Fetal Kidney	kidney
43	chr4:79455600-79456400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:79455600-79456800	Strong transcription	Fetal Lung	lung
45	chr4:79455600-79457200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:79455600-79457200	Strong transcription	Fetal Intestine Small	intestine
47	chr4:79455600-79457200	Strong transcription	HepG2	liver
48	chr4:79455600-79457600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:79455600-79459000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:79455600-79459200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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