Variant report

Variant	rs6934466
Chromosome Location	chr6:30563608-30563609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30538811..30541540-chr6:30563433..30565153,2	MCF-7	breast:
2	chr6:30520003..30524347-chr6:30562819..30566209,4	MCF-7	breast:
3	chr6:30498826..30501960-chr6:30560554..30564366,3	MCF-7	breast:
4	chr6:30449909..30452819-chr6:30563358..30566713,3	K562	blood:

Variant related genes	Relation type
ENSG00000204590	Chromatin interaction
ENSG00000204574	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs16867845	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189134	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189155	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195411	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17195474	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195488	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195516	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195544	0.82[AFR][1000 genomes]
rs2106069	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239515	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239516	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267640	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270172	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2302347	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2394387	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2394388	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2394389	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3815101	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3888777	0.83[AMR][1000 genomes]
rs4148247	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57626358	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58423891	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs58569354	0.83[AFR][1000 genomes]
rs59272830	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59607822	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59913575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60081418	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60365864	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60399658	0.88[ASN][1000 genomes]
rs61134417	0.83[AFR][1000 genomes]
rs61733213	0.88[ASN][1000 genomes]
rs6457246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457247	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457248	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899862	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6901251	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911174	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917935	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927727	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7742291	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742650	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746096	0.83[AFR][1000 genomes]
rs7749109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7767002	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7767714	0.83[AFR][1000 genomes]
rs7768140	0.83[AFR][1000 genomes]
rs7773711	0.88[ASN][1000 genomes]
rs9262120	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9468812	0.88[ASN][1000 genomes]
rs9468821	0.82[ASN][1000 genomes]
rs9468822	0.82[ASN][1000 genomes]
rs9468823	0.82[ASN][1000 genomes]
rs9500865	0.82[ASN][1000 genomes]
rs9671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS 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	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases
8	nsv5244	chr6:30545111-30589803	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	772 gene(s)	inside rSNPs	diseases
9	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6934466	MRPS18B	cis	lymphoblastoid	seeQTL
rs6934466	PRR3	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30540200-30582200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30540200-30582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:30540800-30563800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:30541400-30567400	Weak transcription	Fetal Heart	heart
5	chr6:30541800-30565200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:30542200-30564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:30542200-30581800	Weak transcription	Right Atrium	heart
8	chr6:30544400-30563800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:30544400-30563800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:30544400-30563800	Strong transcription	Brain Germinal Matrix	brain
11	chr6:30544400-30563800	Strong transcription	Fetal Intestine Large	intestine
12	chr6:30554800-30569000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:30558000-30568400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:30558800-30565000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:30558800-30568400	Weak transcription	Esophagus	oesophagus
16	chr6:30558800-30569200	Weak transcription	Fetal Brain Male	brain
17	chr6:30559000-30568600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:30559000-30568800	Weak transcription	Small Intestine	intestine
19	chr6:30559200-30565000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:30559200-30568400	Weak transcription	Right Ventricle	heart
21	chr6:30559200-30568800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:30559200-30568800	Weak transcription	Stomach Mucosa	stomach
23	chr6:30559200-30569000	Weak transcription	Brain Angular Gyrus	brain
24	chr6:30559200-30569000	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:30559600-30568400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:30560200-30568400	Weak transcription	Gastric	stomach
27	chr6:30560400-30568200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:30560400-30568400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:30560400-30568400	Weak transcription	NHDF-Ad	bronchial
30	chr6:30560400-30569400	Weak transcription	Psoas Muscle	Psoas
31	chr6:30560600-30565000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:30560600-30565000	Weak transcription	GM12878-XiMat	blood
33	chr6:30560600-30566600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:30560600-30568200	Weak transcription	A549	lung
35	chr6:30560600-30568400	Weak transcription	Brain Substantia Nigra	brain
36	chr6:30560600-30568400	Weak transcription	Colonic Mucosa	Colon
37	chr6:30560600-30568400	Weak transcription	Left Ventricle	heart
38	chr6:30560800-30568400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:30560800-30568400	Weak transcription	Brain Hippocampus Middle	brain
40	chr6:30560800-30568400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr6:30560800-30568400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:30560800-30569400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:30561200-30567200	Weak transcription	HUVEC	blood vessel
44	chr6:30561200-30568000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:30561400-30567400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:30562600-30568600	Weak transcription	HepG2	liver
47	chr6:30562600-30569200	Weak transcription	Fetal Kidney	kidney
48	chr6:30562800-30566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:30562800-30566800	Weak transcription	Thymus	Thymus
50	chr6:30562800-30567400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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