Variant report

Variant	rs910586
Chromosome Location	chr6:45410312-45410313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45345002..45348666-chr6:45406844..45410633,4	K562	blood:
2	chr6:45409836..45411683-chr6:45415298..45417757,2	K562	blood:
3	chr6:45409035..45411043-chr6:45411792..45413843,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10214519	1.00[CEU][hapmap];0.97[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12197948	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12210100	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12215249	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1317777	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13208741	1.00[JPT][hapmap]
rs1343799	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1934327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2252718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2256819	0.91[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2396442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2677098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677100	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677109	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[EUR][1000 genomes]
rs2677110	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2790093	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2790094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790095	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2790097	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2790098	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2790099	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2790100	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2790102	1.00[CEU][hapmap];0.85[GIH][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs2790103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819852	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2819853	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2819861	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2819864	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2819865	0.87[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2819866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2819867	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2820339	1.00[CEU][hapmap];0.92[GIH][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs2820340	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4711816	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4714854	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6458443	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs765724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756144	0.89[EUR][1000 genomes]
rs9472494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9885645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs910586	MRPL2	cis	cerebellum	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45394400-45413200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:45399400-45423600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:45399800-45410600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr6:45402000-45413200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:45403000-45410600	Enhancers	Fetal Thymus	thymus
6	chr6:45403800-45413200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:45405000-45413000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:45405000-45413200	Weak transcription	Brain Anterior Caudate	brain
9	chr6:45405200-45417200	Weak transcription	Spleen	Spleen
10	chr6:45405400-45413400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:45405600-45411600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr6:45405600-45412200	Weak transcription	Primary B cells from cord blood	blood
13	chr6:45405600-45412400	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:45405600-45413200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:45405600-45413200	Weak transcription	Brain Substantia Nigra	brain
16	chr6:45405600-45413400	Weak transcription	Brain Angular Gyrus	brain
17	chr6:45405600-45413800	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:45405600-45417400	Genic enhancers	Dnd41	blood
19	chr6:45406400-45412000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:45406600-45412200	Weak transcription	Fetal Intestine Small	intestine
21	chr6:45407000-45413200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:45407000-45413400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:45407200-45413000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:45407200-45413000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:45407200-45413200	Weak transcription	Fetal Kidney	kidney
26	chr6:45407200-45413200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:45407200-45413800	Weak transcription	Aorta	Aorta
28	chr6:45407200-45418200	Weak transcription	Gastric	stomach
29	chr6:45407200-45462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:45407400-45411400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr6:45407400-45411400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:45407400-45411800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:45407400-45411800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr6:45407400-45412000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:45407400-45413000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:45407400-45413600	Weak transcription	Primary T cells from cord blood	blood
37	chr6:45407600-45412000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:45407600-45412000	Weak transcription	Hela-S3	cervix
39	chr6:45407800-45411000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:45407800-45411800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr6:45407800-45412000	Strong transcription	HSMM	muscle
42	chr6:45407800-45413200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr6:45407800-45413200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr6:45408000-45410600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:45408000-45412400	Weak transcription	HMEC	breast
46	chr6:45408400-45410400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:45408400-45412000	Weak transcription	K562	blood
48	chr6:45409000-45411800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr6:45409000-45412200	Weak transcription	NH-A	brain
50	chr6:45409200-45410600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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