Variant report

Variant	rs425535
Chromosome Location	chr4:74863997-74863998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1156553	0.81[CEU][hapmap]
rs1156554	0.81[CEU][hapmap]
rs164615	0.81[CEU][hapmap]
rs168449	0.87[EUR][1000 genomes]
rs16850352	1.00[JPT][hapmap]
rs16850354	1.00[JPT][hapmap]
rs183028	0.83[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs187080	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs187082	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1898002	0.81[CEU][hapmap]
rs191601	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs193263	0.87[EUR][1000 genomes]
rs2437285	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs2457996	0.88[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs2564594	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs352007	0.84[EUR][1000 genomes]
rs352009	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs352010	0.81[YRI][hapmap];0.82[EUR][1000 genomes]
rs352018	0.81[CEU][hapmap]
rs352045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352046	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3756075	1.00[JPT][hapmap]
rs377579	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs394408	0.83[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs409336	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs420389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs426901	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs440676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs442155	0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs447206	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs450373	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4694656	0.81[CEU][hapmap]
rs552582	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6838264	1.00[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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs425535	MOBKL1A	cis	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74861600-74864800	Active TSS	A549	lung
2	chr4:74861800-74865000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:74862800-74865000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr4:74863000-74864400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
5	chr4:74863000-74864800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr4:74863400-74864600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:74863600-74864000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:74863600-74864800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr4:74863800-74864000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:74863800-74864000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:74863800-74864000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:74863800-74864000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:74863800-74864000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr4:74863800-74864000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:74863800-74864000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:74863800-74864000	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
17	chr4:74863800-74864000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:74863800-74864000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:74863800-74864000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:74863800-74864000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:74863800-74864000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:74863800-74864000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
23	chr4:74863800-74864000	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr4:74863800-74864000	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr4:74863800-74864000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr4:74863800-74864000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr4:74863800-74864000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
28	chr4:74863800-74864000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr4:74863800-74864000	Bivalent Enhancer	Fetal Brain Male	brain
30	chr4:74863800-74864000	Bivalent Enhancer	Fetal Intestine Large	intestine
31	chr4:74863800-74864000	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr4:74863800-74864000	Enhancers	Pancreas	Pancrea
33	chr4:74863800-74864000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr4:74863800-74864000	Bivalent Enhancer	NH-A	brain
35	chr4:74863800-74864000	Enhancers	NHEK	skin
36	chr4:74863800-74864200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr4:74863800-74864200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr4:74863800-74864200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:74863800-74864200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr4:74863800-74864200	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr4:74863800-74864200	Bivalent Enhancer	Lung	lung
42	chr4:74863800-74864200	Flanking Active TSS	NHDF-Ad	bronchial
43	chr4:74863800-74864200	Flanking Active TSS	Osteobl	bone
44	chr4:74863800-74864400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:74863800-74864400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:74863800-74864400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr4:74863800-74864400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:74863800-74864400	Enhancers	Spleen	Spleen
49	chr4:74863800-74864600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
50	chr4:74863800-74864600	Active TSS	iPS-18 Cell Line	embryonic stem cell

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