Variant report

Variant	rs7592155
Chromosome Location	chr2:73048938-73048939
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	chr2:73047022..73050173-chr2:73051630..73054545,3	MCF-7	breast:
2	chr2:73042920..73049725-chr2:73049916..73055202,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144036	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10211019	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1027848	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1032982	1.00[CHB][hapmap]
rs10496186	0.91[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865392	1.00[ASN][1000 genomes]
rs10865393	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11126374	1.00[ASN][1000 genomes]
rs11126385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1161265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs1161266	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1161267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11676555	1.00[CHB][hapmap]
rs11677707	1.00[CHB][hapmap]
rs11679683	1.00[CHB][hapmap]
rs11684985	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685114	1.00[CHB][hapmap]
rs11894160	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471136	1.00[ASN][1000 genomes]
rs12474728	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12476130	1.00[ASN][1000 genomes]
rs12622275	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12713774	1.00[ASN][1000 genomes]
rs12713775	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12989141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996406	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13006497	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13008041	1.00[ASN][1000 genomes]
rs13008258	1.00[ASN][1000 genomes]
rs13035731	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1396106	0.85[EUR][1000 genomes]
rs1446887	1.00[CHB][hapmap]
rs1446888	1.00[ASN][1000 genomes]
rs1446889	1.00[ASN][1000 genomes]
rs1446890	1.00[ASN][1000 genomes]
rs1446891	1.00[ASN][1000 genomes]
rs1446892	1.00[ASN][1000 genomes]
rs1446893	1.00[ASN][1000 genomes]
rs1446895	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs1446896	1.00[CHB][hapmap]
rs1508061	1.00[CHB][hapmap]
rs1567230	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17503444	1.00[CHB][hapmap]
rs1911690	1.00[CHB][hapmap]
rs1992799	1.00[ASN][1000 genomes]
rs1995734	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048170	0.93[EUR][1000 genomes]
rs2048171	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2135985	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2420565	1.00[ASN][1000 genomes]
rs2420880	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2420881	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2420883	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2421095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4321391	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4407272	1.00[ASN][1000 genomes]
rs4852293	1.00[ASN][1000 genomes]
rs4852294	1.00[ASN][1000 genomes]
rs4852298	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852877	1.00[ASN][1000 genomes]
rs4852878	1.00[ASN][1000 genomes]
rs4852880	1.00[ASN][1000 genomes]
rs4852883	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4852886	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4852888	1.00[CHB][hapmap]
rs4852889	1.00[CHB][hapmap]
rs4852890	1.00[CHB][hapmap]
rs4852891	1.00[CHB][hapmap]
rs4852893	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852902	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6546776	1.00[ASN][1000 genomes]
rs6546777	1.00[ASN][1000 genomes]
rs6546778	1.00[ASN][1000 genomes]
rs6546779	1.00[ASN][1000 genomes]
rs6546781	1.00[CHB][hapmap]
rs6546782	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546783	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546786	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6546788	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6546789	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6546790	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6546791	0.94[EUR][1000 genomes]
rs6546792	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6707435	1.00[ASN][1000 genomes]
rs6724529	1.00[CHB][hapmap]
rs6730083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs6739002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742088	1.00[ASN][1000 genomes]
rs6742312	1.00[ASN][1000 genomes]
rs6747378	1.00[ASN][1000 genomes]
rs6750740	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6758431	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6758542	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7420391	1.00[ASN][1000 genomes]
rs7560529	1.00[ASN][1000 genomes]
rs7560599	1.00[ASN][1000 genomes]
rs7565198	1.00[ASN][1000 genomes]
rs7571064	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs7580268	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586787	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7588400	1.00[CHB][hapmap]
rs7588602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591025	1.00[ASN][1000 genomes]
rs7591303	1.00[ASN][1000 genomes]
rs7598238	1.00[ASN][1000 genomes]
rs7601020	1.00[ASN][1000 genomes]
rs7601318	1.00[ASN][1000 genomes]
rs7603797	1.00[ASN][1000 genomes]
rs925146	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs925147	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs925148	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs983928	1.00[ASN][1000 genomes]
rs990569	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.81[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	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7592155	MPHOSPH10	cis	cerebellum	SCAN
rs7592155	CYP26B1	cis	Whole Blood	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73034000-73049600	Weak transcription	Right Atrium	heart
2	chr2:73034400-73051600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:73036200-73050000	Weak transcription	Esophagus	oesophagus
4	chr2:73036200-73050600	Weak transcription	Left Ventricle	heart
5	chr2:73036400-73050800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:73036400-73051400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:73036600-73051800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:73037200-73051800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:73038200-73051200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:73038400-73051200	Weak transcription	Fetal Stomach	stomach
11	chr2:73038400-73052000	Weak transcription	Aorta	Aorta
12	chr2:73041000-73049400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:73041400-73049800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:73041400-73051400	Weak transcription	HSMM	muscle
15	chr2:73041600-73049200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:73041600-73049400	Weak transcription	HMEC	breast
17	chr2:73041600-73049800	Weak transcription	Brain Anterior Caudate	brain
18	chr2:73041600-73050800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:73041600-73051200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:73041600-73051200	Weak transcription	NHDF-Ad	bronchial
21	chr2:73041600-73051400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:73041600-73051600	Weak transcription	HSMMtube	muscle
23	chr2:73041800-73049600	Weak transcription	Brain Substantia Nigra	brain
24	chr2:73041800-73051400	Weak transcription	Fetal Intestine Large	intestine
25	chr2:73042600-73050000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:73042600-73051200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:73043600-73051000	Weak transcription	Hela-S3	cervix
28	chr2:73043800-73051400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:73044800-73049800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:73045000-73049400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:73045000-73049400	Weak transcription	Right Ventricle	heart
32	chr2:73045000-73051200	Weak transcription	Ovary	ovary
33	chr2:73045200-73049600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:73045200-73051800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:73045800-73051200	Weak transcription	Lung	lung
36	chr2:73046000-73051200	Weak transcription	Gastric	stomach
37	chr2:73046200-73049400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:73046200-73051800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:73046400-73051600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:73046800-73051600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:73047000-73051000	Weak transcription	HepG2	liver
42	chr2:73047000-73051200	Weak transcription	Small Intestine	intestine
43	chr2:73047200-73051400	Weak transcription	A549	lung
44	chr2:73047400-73050000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:73047600-73049800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:73047800-73051200	Weak transcription	Fetal Lung	lung
47	chr2:73048000-73051200	Weak transcription	Stomach Mucosa	stomach
48	chr2:73048400-73049000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr2:73048400-73049000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:73048400-73049000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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