Variant report

Variant	rs1044586
Chromosome Location	chr6:132212214-132212215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:132208396..132211253-chr6:132211856..132215188,4	MCF-7	breast:
2	6:132204869-132216114..6:132646256-132647474	Hela-S3	cervix:
3	6:132176847-132180372..6:132204869-132216114	K562	blood:
4	6:132204869-132216114..6:132269655-132282174	K562	blood:

Variant related genes	Relation type
ENSG00000227220	Chromatin interaction
ENSG00000079931	Chromatin interaction
ENSG00000118523	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1044548	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1044558	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1044582	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11154647	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11154648	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11154649	0.87[AMR][1000 genomes]
rs11963183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11963185	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11963188	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11963205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11965770	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12206909	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34608785	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34836463	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs553	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6905420	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6905840	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6905983	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6906262	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6906496	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6928202	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6928362	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7767111	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493118	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493119	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493121	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1067924	chr6:132206904-132212518	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132163000-132213600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:132180600-132213200	Strong transcription	Liver	Liver
3	chr6:132182000-132214200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:132184800-132213200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:132185200-132217200	Weak transcription	Psoas Muscle	Psoas
6	chr6:132185800-132212600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:132186200-132213800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:132186600-132212400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:132190000-132213200	Strong transcription	HepG2	liver
10	chr6:132190200-132214000	Weak transcription	NHDF-Ad	bronchial
11	chr6:132190600-132216200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:132192200-132213800	Weak transcription	Pancreas	Pancrea
13	chr6:132195200-132212800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:132202200-132213400	Weak transcription	Fetal Intestine Large	intestine
15	chr6:132202200-132213400	Weak transcription	Left Ventricle	heart
16	chr6:132202200-132215600	Weak transcription	Aorta	Aorta
17	chr6:132202200-132215600	Weak transcription	Ovary	ovary
18	chr6:132202800-132213400	Weak transcription	Fetal Stomach	stomach
19	chr6:132204200-132214600	Strong transcription	Osteobl	bone
20	chr6:132204400-132213800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:132204400-132213800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:132205400-132213400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:132205600-132215600	Weak transcription	Small Intestine	intestine
24	chr6:132205800-132214400	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr6:132207000-132215000	Weak transcription	Placenta	Placenta
26	chr6:132207800-132212800	Strong transcription	Adipose Nuclei	Adipose
27	chr6:132207800-132213800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:132209200-132212800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:132209600-132213000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:132209600-132216000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:132210200-132213600	Weak transcription	Fetal Intestine Small	intestine
32	chr6:132210200-132213800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:132210200-132215400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:132210200-132217600	Weak transcription	HSMM	muscle
35	chr6:132210400-132215800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:132210800-132213400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:132210800-132216000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:132211000-132213400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:132211200-132212400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr6:132211200-132213200	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr6:132211400-132213600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:132211400-132214000	Strong transcription	Fetal Muscle Leg	muscle
43	chr6:132211400-132216600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr6:132211600-132212800	Strong transcription	HSMMtube	muscle
45	chr6:132211600-132214200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:132211800-132213000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:132211800-132217800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:132212000-132213600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:132212000-132214000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:132212000-132214200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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