Variant report

Variant	rs6940323
Chromosome Location	chr6:37456564-37456565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37454869..37462977-chr6:37463391..37469245,23	K562	blood:
2	chr6:37440015..37443370-chr6:37454781..37457774,3	K562	blood:
3	chr6:37448409..37450836-chr6:37456466..37458234,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198937	Chromatin interaction
ENSG00000137200	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2173314	0.85[CEU][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap]
rs2776901	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs2776915	0.94[EUR][1000 genomes]
rs2776919	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs28581421	0.91[EUR][1000 genomes]
rs59158311	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6904458	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6904652	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6917159	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6919260	0.97[EUR][1000 genomes]
rs6942190	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409227	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730776	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73730780	0.82[EUR][1000 genomes]
rs7751388	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9462313	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9462316	0.97[EUR][1000 genomes]
rs9470580	0.82[AMR][1000 genomes]
rs9470595	0.97[EUR][1000 genomes]
rs9470599	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470601	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9470604	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6940323	DDX6	trans	brain	seeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37436200-37457200	Strong transcription	Primary T cells from cord blood	blood
2	chr6:37442000-37458800	Weak transcription	HUVEC	blood vessel
3	chr6:37443600-37466600	Weak transcription	A549	lung
4	chr6:37446800-37466600	Weak transcription	Hela-S3	cervix
5	chr6:37447600-37466800	Weak transcription	HSMM	muscle
6	chr6:37448400-37466800	Weak transcription	Stomach Mucosa	stomach
7	chr6:37448800-37457400	Weak transcription	Psoas Muscle	Psoas
8	chr6:37448800-37457800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:37449200-37457400	Weak transcription	NH-A	brain
10	chr6:37449400-37457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:37449600-37459800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:37449800-37457200	Strong transcription	Fetal Stomach	stomach
13	chr6:37449800-37457400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:37449800-37457600	Weak transcription	Brain Anterior Caudate	brain
15	chr6:37450000-37457200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:37450200-37457400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:37450200-37467200	Weak transcription	Small Intestine	intestine
18	chr6:37451000-37457800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:37451200-37458400	Weak transcription	Brain Angular Gyrus	brain
20	chr6:37451200-37459600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:37451200-37459800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:37451400-37457200	Weak transcription	Left Ventricle	heart
23	chr6:37451400-37457800	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:37451400-37458600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:37451400-37459200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:37451400-37465600	Weak transcription	Colonic Mucosa	Colon
27	chr6:37451600-37457400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:37451600-37457600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:37451600-37458400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:37451600-37466800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:37451600-37467000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:37451800-37457200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:37451800-37457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:37451800-37459000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:37451800-37459000	Weak transcription	Liver	Liver
36	chr6:37451800-37462400	Enhancers	Fetal Brain Male	brain
37	chr6:37451800-37466600	Weak transcription	Primary B cells from cord blood	blood
38	chr6:37451800-37466800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:37452000-37457000	Weak transcription	Right Ventricle	heart
40	chr6:37452000-37457000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:37452000-37457400	Weak transcription	Brain Substantia Nigra	brain
42	chr6:37452000-37457400	Weak transcription	HMEC	breast
43	chr6:37452000-37457600	Weak transcription	Fetal Lung	lung
44	chr6:37452000-37457800	Weak transcription	Colon Smooth Muscle	Colon
45	chr6:37452000-37459600	Weak transcription	Esophagus	oesophagus
46	chr6:37452000-37459800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr6:37452000-37460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:37452000-37460800	Weak transcription	Ovary	ovary
49	chr6:37452000-37462200	Weak transcription	Aorta	Aorta
50	chr6:37452000-37466600	Weak transcription	Rectal Mucosa Donor 29	rectum

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