Variant report

Variant	rs9464383
Chromosome Location	chr6:56234843-56234844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:56234558..56235401-chr6:56435496..56436175,3	MCF-7	breast:
2	chr6:56234551..56238270-chr6:56238885..56242928,5	MCF-7	breast:
3	chr6:56233618..56238024-chr6:56405386..56408602,4	MCF-7	breast:
4	chr6:56234525..56235479-chr6:56413389..56414430,8	MCF-7	breast:
5	chr6:56234569..56235702-chr6:56282589..56283337,3	MCF-7	breast:
6	chr6:56233543..56236471-chr6:56278322..56281271,2	MCF-7	breast:
7	chr6:56233493..56236499-chr6:56300077..56302694,3	MCF-7	breast:
8	chr6:56234561..56235796-chr6:56282457..56283322,3	MCF-7	breast:
9	chr6:56227775..56231675-chr6:56232771..56236094,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11751569	0.93[CHB][hapmap]
rs11757910	0.88[CHB][hapmap]
rs11757941	0.88[CHB][hapmap]
rs12110833	0.88[CHB][hapmap]
rs13218268	0.87[CHB][hapmap]
rs13220153	0.88[CHB][hapmap]
rs16887812	0.88[CHB][hapmap]
rs2206531	0.83[CHB][hapmap]
rs2206533	0.81[CHB][hapmap]
rs2294697	0.87[CHB][hapmap]
rs4140500	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715616	0.83[CHB][hapmap]
rs4715617	0.83[CHB][hapmap]
rs6459157	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs7764788	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7770594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296842	0.83[CHB][hapmap]
rs9370525	0.88[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs9382623	0.83[CHB][hapmap]
rs9382624	0.88[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs994376	0.83[CHB][hapmap]
rs999231	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56225200-56235200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:56225200-56235200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:56229200-56236200	Weak transcription	Left Ventricle	heart
4	chr6:56229600-56235000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:56229600-56237800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:56230000-56235000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:56230000-56235000	Weak transcription	HSMMtube	muscle
8	chr6:56230200-56235000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:56231000-56235000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:56231000-56238000	Enhancers	Adipose Nuclei	Adipose
11	chr6:56231000-56238000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:56231200-56235000	Weak transcription	Right Atrium	heart
13	chr6:56231200-56235200	Weak transcription	Fetal Heart	heart
14	chr6:56231200-56235800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:56231400-56235000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:56231600-56235000	Weak transcription	Psoas Muscle	Psoas
17	chr6:56231600-56235000	Weak transcription	Right Ventricle	heart
18	chr6:56231800-56235000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:56232400-56235000	Weak transcription	Fetal Lung	lung
20	chr6:56232400-56235200	Weak transcription	Small Intestine	intestine
21	chr6:56232400-56236800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:56232800-56236000	Weak transcription	Spleen	Spleen
23	chr6:56232800-56236200	Weak transcription	Lung	lung
24	chr6:56233200-56236400	Enhancers	Colon Smooth Muscle	Colon
25	chr6:56233400-56235000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:56233600-56235000	Weak transcription	Brain Anterior Caudate	brain
27	chr6:56233600-56235000	Weak transcription	NHLF	lung
28	chr6:56233600-56237200	Weak transcription	Ovary	ovary
29	chr6:56233800-56235000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:56233800-56235000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr6:56233800-56235000	Weak transcription	Fetal Intestine Small	intestine
32	chr6:56233800-56235000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr6:56234400-56235600	Flanking Active TSS	NHEK	skin
34	chr6:56234400-56236800	Enhancers	Liver	Liver
35	chr6:56234600-56235000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr6:56234600-56235000	Enhancers	HSMM	muscle
37	chr6:56234600-56235400	Enhancers	NH-A	brain
38	chr6:56234600-56235800	Flanking Active TSS	HMEC	breast
39	chr6:56234600-56236000	Flanking Active TSS	HUVEC	blood vessel
40	chr6:56234600-56236200	Enhancers	Fetal Kidney	kidney
41	chr6:56234600-56237400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr6:56234800-56235000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:56234800-56235000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:56234800-56235000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr6:56234800-56235000	Enhancers	NHDF-Ad	bronchial
46	chr6:56234800-56235400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:56234800-56235400	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr6:56234800-56235400	Flanking Active TSS	Hela-S3	cervix
49	chr6:56234800-56235600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:56234800-56235600	Enhancers	Placenta	Placenta

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