Variant report

Variant	rs12213722
Chromosome Location	chr6:26473083-26473084
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	chr6:26464821..26467283-chr6:26470555..26474076,4	MCF-7	breast:
2	chr6:26467959..26470668-chr6:26470770..26473697,4	MCF-7	breast:
3	chr6:26457588..26459634-chr6:26472542..26475354,3	MCF-7	breast:
4	chr6:26472114..26481394-chr6:26482721..26495847,23	K562	blood:
5	chr6:26469351..26470926-chr6:26472067..26474626,2	K562	blood:
6	chr6:26471471..26473302-chr6:26536499..26539408,2	K562	blood:
7	chr6:26471319..26475410-chr6:26567164..26571952,5	K562	blood:
8	chr6:26470613..26473867-chr6:26476951..26479626,4	K562	blood:
9	chr6:26472961..26477109-chr6:26519664..26522390,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182952	Chromatin interaction
ENSG00000199289	Chromatin interaction
ENSG00000112763	Chromatin interaction
ENSG00000228223	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10456328	1.00[CEU][hapmap]
rs10456330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10484440	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs10946822	0.82[EUR][1000 genomes]
rs12189841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12194095	0.81[CEU][hapmap]
rs12195971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12199239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12200782	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12201802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12201890	1.00[CEU][hapmap]
rs12202419	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12204145	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12207181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12207224	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12208390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12209651	1.00[CEU][hapmap]
rs12211201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3757140	0.88[CEU][hapmap]
rs3757145	1.00[CEU][hapmap]
rs3757149	1.00[CEU][hapmap]
rs3800304	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs3927423	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41267923	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4515370	0.81[EUR][1000 genomes]
rs6456741	1.00[CEU][hapmap]
rs6456742	0.81[CEU][hapmap]
rs6912853	1.00[CHB][hapmap]
rs72836448	1.00[AFR][1000 genomes]
rs72836480	1.00[AFR][1000 genomes]
rs72840194	1.00[AFR][1000 genomes]
rs72843734	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72843802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72844476	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72844495	0.83[EUR][1000 genomes]
rs9461246	1.00[CEU][hapmap]
rs9461249	0.81[CEU][hapmap]
rs9467741	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
4	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv482407	chr6:26369320-26550148	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers 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	62 gene(s)	inside rSNPs	diseases
6	nsv1031938	chr6:26467182-26501897	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26466600-26473800	Weak transcription	Fetal Heart	heart
2	chr6:26467200-26473800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:26469000-26473200	Weak transcription	Hela-S3	cervix
4	chr6:26469400-26473800	Weak transcription	Ovary	ovary
5	chr6:26469600-26473200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:26469600-26473200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:26469600-26473200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:26469600-26473200	Weak transcription	K562	blood
9	chr6:26469600-26473200	Weak transcription	NHLF	lung
10	chr6:26469600-26473400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:26469600-26473400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:26469600-26473400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:26469600-26473400	Weak transcription	HMEC	breast
14	chr6:26469600-26473400	Weak transcription	HSMMtube	muscle
15	chr6:26469600-26473400	Weak transcription	HUVEC	blood vessel
16	chr6:26469600-26473400	Weak transcription	NHEK	skin
17	chr6:26469600-26473400	Weak transcription	Osteobl	bone
18	chr6:26469600-26473600	Weak transcription	A549	lung
19	chr6:26469600-26473800	Weak transcription	Brain Angular Gyrus	brain
20	chr6:26469600-26473800	Weak transcription	Brain Anterior Caudate	brain
21	chr6:26469600-26473800	Weak transcription	Placenta	Placenta
22	chr6:26469600-26473800	Weak transcription	Right Ventricle	heart
23	chr6:26469600-26474000	Weak transcription	HSMM	muscle
24	chr6:26469600-26474200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:26469600-26476600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:26469800-26473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:26469800-26473400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:26469800-26473800	Weak transcription	Fetal Brain Female	brain
29	chr6:26469800-26473800	Weak transcription	NH-A	brain
30	chr6:26470200-26473400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:26470400-26473400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:26470400-26473800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:26470400-26473800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:26471000-26473800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:26471200-26473200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:26471400-26473200	Weak transcription	NHDF-Ad	bronchial
37	chr6:26471400-26473400	Weak transcription	HepG2	liver
38	chr6:26471600-26473200	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr6:26471600-26473200	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr6:26471600-26473600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:26471800-26473200	Weak transcription	Stomach Mucosa	stomach
42	chr6:26471800-26473400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:26471800-26473400	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:26471800-26473400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:26471800-26473400	Weak transcription	Fetal Lung	lung
46	chr6:26471800-26473400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr6:26471800-26473600	Weak transcription	Brain Hippocampus Middle	brain
48	chr6:26471800-26473600	Weak transcription	Fetal Kidney	kidney
49	chr6:26471800-26473600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:26471800-26473800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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