Variant report

Variant	rs4045192
Chromosome Location	chr1:155038756-155038757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155036626..155039573-chr1:155062650..155065078,2	K562	blood:
2	chr1:154909259..154911381-chr1:155036390..155039104,2	K562	blood:
3	chr1:154969072..154977664-chr1:155030052..155039846,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270361	Chromatin interaction
ENSG00000163344	Chromatin interaction
ENSG00000160685	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1001848	0.85[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.86[ASN][1000 genomes]
rs10908454	0.85[JPT][hapmap]
rs10908455	0.85[JPT][hapmap]
rs10908456	0.85[JPT][hapmap]
rs11264304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11264306	0.85[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.86[ASN][1000 genomes]
rs11264307	0.86[ASN][1000 genomes]
rs11264314	0.82[JPT][hapmap]
rs11264319	0.85[JPT][hapmap]
rs11264329	0.85[JPT][hapmap]
rs12040970	0.85[JPT][hapmap]
rs12047986	0.86[ASN][1000 genomes]
rs12145362	0.85[JPT][hapmap]
rs1462855	0.85[JPT][hapmap]
rs1564124	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870939	0.85[JPT][hapmap]
rs2306124	0.85[JPT][hapmap]
rs2306125	0.86[JPT][hapmap]
rs35902694	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3765087	0.85[JPT][hapmap]
rs3766916	0.85[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs3806256	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4845407	0.85[JPT][hapmap]
rs4845408	0.85[JPT][hapmap]
rs4845712	0.86[ASN][1000 genomes]
rs6427158	0.85[JPT][hapmap]
rs6665822	0.85[JPT][hapmap]
rs6693477	0.85[JPT][hapmap]
rs7365544	0.85[JPT][hapmap]
rs7367207	0.85[JPT][hapmap]
rs7367897	1.00[JPT][hapmap]
rs7368345	0.85[JPT][hapmap]
rs7534162	0.85[JPT][hapmap]
rs7548955	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
3	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
4	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4045192	UBE2Q1	cis	cerebellum	SCAN
rs4045192	EFNA1	cis	cerebellum	SCAN
rs4045192	S100A9	cis	parietal	SCAN
rs4045192	ADAM15	cis	brain	BrainEAC
rs4045192	APOA1BP	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155036800-155039400	Weak transcription	Lung	lung
2	chr1:155036800-155042800	Weak transcription	Left Ventricle	heart
3	chr1:155036800-155042800	Weak transcription	Psoas Muscle	Psoas
4	chr1:155037000-155038800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:155037000-155038800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:155037000-155038800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:155037000-155038800	Weak transcription	Gastric	stomach
8	chr1:155037000-155041200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:155037000-155041800	Weak transcription	Fetal Brain Female	brain
10	chr1:155037000-155042000	Weak transcription	Brain Anterior Caudate	brain
11	chr1:155037000-155042000	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:155037000-155042000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:155037000-155042200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:155037000-155042200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:155037000-155042400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:155037000-155042400	Weak transcription	Right Ventricle	heart
17	chr1:155037000-155042600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:155037200-155038800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:155037200-155038800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:155037200-155038800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:155037200-155038800	Weak transcription	Fetal Stomach	stomach
22	chr1:155037200-155039000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:155037200-155041000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:155037200-155041000	Weak transcription	Ovary	ovary
25	chr1:155037200-155041600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:155037200-155042600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:155037200-155042800	Weak transcription	Adipose Nuclei	Adipose
28	chr1:155037200-155042800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:155037200-155043000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:155037200-155043000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:155037200-155043000	Weak transcription	HSMM	muscle
32	chr1:155037200-155043000	Weak transcription	NHDF-Ad	bronchial
33	chr1:155037200-155043000	Weak transcription	NHLF	lung
34	chr1:155037400-155038800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:155037400-155039000	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:155037400-155039200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:155037400-155039400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:155037400-155039400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:155037400-155040600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:155037400-155041200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:155037400-155041200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:155037400-155041600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:155037400-155042000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:155037400-155042400	Weak transcription	Fetal Thymus	thymus
45	chr1:155037400-155042600	Weak transcription	Fetal Heart	heart
46	chr1:155037400-155042800	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:155037400-155043000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:155037400-155043000	Weak transcription	Osteobl	bone
49	chr1:155037600-155038800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:155037600-155038800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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