Variant report

Variant	rs1365492
Chromosome Location	chr4:100792952-100792953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100787434..100789381-chr4:100792639..100794581,2	K562	blood:
2	chr4:100785532..100787668-chr4:100791183..100793656,2	MCF-7	breast:
3	chr4:100791709..100794729-chr4:100795238..100797481,3	MCF-7	breast:
4	chr4:100792689..100794948-chr4:100867316..100869086,2	K562	blood:

Variant related genes	Relation type
ENSG00000164031	Chromatin interaction
ENSG00000070190	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10026048	0.94[ASN][1000 genomes]
rs11097676	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs11097677	0.95[JPT][hapmap]
rs11732776	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11935024	0.90[ASN][1000 genomes]
rs11935399	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11939538	0.82[LWK][hapmap]
rs1365491	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs1365495	0.91[JPT][hapmap]
rs17029563	0.95[JPT][hapmap]
rs17029583	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17029662	0.82[LWK][hapmap]
rs1863608	0.90[JPT][hapmap]
rs1896166	0.94[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1961323	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1972698	0.95[JPT][hapmap]
rs2098937	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2114442	0.91[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2282588	0.91[JPT][hapmap]
rs2298735	0.88[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.86[MEX][hapmap];0.94[MKK][hapmap];0.95[ASN][1000 genomes]
rs28404345	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2866174	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2866180	0.90[ASN][1000 genomes]
rs28679452	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28706589	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3756087	0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs3775499	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs3775500	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs3775501	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs3775511	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4699764	0.86[JPT][hapmap]
rs4699765	0.90[JPT][hapmap]
rs60978748	0.92[ASN][1000 genomes]
rs6532833	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs6532835	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6532836	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6811559	0.90[ASN][1000 genomes]
rs6814895	0.95[JPT][hapmap]
rs6848337	0.88[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6849599	0.89[ASW][hapmap];0.89[CEU][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6854536	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs715239	0.91[JPT][hapmap]
rs7675947	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7676564	0.94[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7684872	0.95[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7686428	0.94[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7689566	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7692416	0.91[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[ASN][1000 genomes]
rs919132	0.89[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs919133	0.89[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9307242	0.90[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1365492	MAPKSP1	cis	parietal	SCAN
rs1365492	DNAJB14	cis	parietal	SCAN
rs1365492	DAPP1	Cis_1M	lymphoblastoid	RTeQTL
rs1365492	MTTP	cis	lymphoblastoid	seeQTL
rs1365492	NFKB1	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100761000-100801200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:100768400-100799000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:100777600-100800800	Weak transcription	Thymus	Thymus
4	chr4:100777800-100799200	Weak transcription	Fetal Thymus	thymus
5	chr4:100777800-100801000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:100778000-100798600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:100778000-100800200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:100778200-100798200	Weak transcription	Placenta	Placenta
9	chr4:100778400-100800600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:100781200-100800800	Weak transcription	Esophagus	oesophagus
11	chr4:100781200-100800800	Weak transcription	Spleen	Spleen
12	chr4:100781200-100801000	Weak transcription	Pancreas	Pancrea
13	chr4:100781400-100795800	Strong transcription	Primary B cells from cord blood	blood
14	chr4:100782800-100793400	Strong transcription	GM12878-XiMat	blood
15	chr4:100783000-100793400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr4:100783000-100793600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr4:100783000-100796000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr4:100783200-100793000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:100784400-100793000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:100786400-100798000	Weak transcription	Liver	Liver
21	chr4:100787800-100797800	Weak transcription	Fetal Lung	lung
22	chr4:100788200-100797800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:100788800-100799600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:100789000-100793200	Strong transcription	NHEK	skin
25	chr4:100789600-100799400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:100789600-100799600	Weak transcription	Left Ventricle	heart
27	chr4:100789600-100799600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:100789600-100799600	Weak transcription	NH-A	brain
29	chr4:100789600-100800200	Weak transcription	NHLF	lung
30	chr4:100789600-100800600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:100789600-100805200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:100789600-100814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:100789800-100796000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:100789800-100797600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:100789800-100798600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:100789800-100799000	Weak transcription	NHDF-Ad	bronchial
37	chr4:100789800-100799200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:100789800-100799400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:100789800-100799600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:100789800-100800000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:100789800-100800000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:100789800-100800200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr4:100789800-100800200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:100789800-100800200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:100789800-100800800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:100789800-100800800	Weak transcription	Ovary	ovary
47	chr4:100789800-100800800	Weak transcription	Psoas Muscle	Psoas
48	chr4:100789800-100801600	Weak transcription	Gastric	stomach
49	chr4:100789800-100805200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr4:100790000-100797600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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