Variant report

Variant	rs6917434
Chromosome Location	chr6:30562647-30562648
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	chr6:30475890..30478068-chr6:30561037..30562938,2	K562	blood:
2	chr6:30498826..30501960-chr6:30560554..30564366,3	MCF-7	breast:

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]
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]
rs6934466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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
rs6917434	MRPS18B	cis	lymphoblastoid	seeQTL
rs6917434	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	chr6:30540400-30563000	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:30540800-30563600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:30540800-30563600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:30540800-30563800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:30541400-30567400	Weak transcription	Fetal Heart	heart
8	chr6:30541600-30563000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr6:30541800-30562800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:30541800-30565200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:30542000-30562800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:30542200-30563200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:30542200-30564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:30542200-30581800	Weak transcription	Right Atrium	heart
15	chr6:30542800-30563400	Strong transcription	Fetal Stomach	stomach
16	chr6:30543000-30562800	Strong transcription	Thymus	Thymus
17	chr6:30543200-30562800	Strong transcription	Adipose Nuclei	Adipose
18	chr6:30543200-30563000	Strong transcription	Fetal Brain Female	brain
19	chr6:30543200-30563000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr6:30543200-30563000	Strong transcription	Fetal Muscle Leg	muscle
21	chr6:30543200-30563400	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr6:30543200-30563400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:30543200-30563600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr6:30543400-30563000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:30543400-30563000	Strong transcription	Primary T cells from cord blood	blood
26	chr6:30543400-30563000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:30543400-30563400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:30543600-30563000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:30543600-30563400	Strong transcription	Dnd41	blood
30	chr6:30543800-30562800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:30543800-30563000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr6:30543800-30563200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:30544200-30563000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:30544400-30563000	Strong transcription	Liver	Liver
35	chr6:30544400-30563000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:30544400-30563200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:30544400-30563800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:30544400-30563800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:30544400-30563800	Strong transcription	Brain Germinal Matrix	brain
40	chr6:30544400-30563800	Strong transcription	Fetal Intestine Large	intestine
41	chr6:30544600-30562800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:30544600-30563000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr6:30544800-30563400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr6:30545000-30563000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:30554800-30569000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr6:30556200-30562800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:30556200-30563600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:30556600-30562800	Strong transcription	Aorta	Aorta
49	chr6:30556600-30563000	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr6:30557400-30563400	Strong transcription	Primary B cells from cord blood	blood

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