Variant report

Variant	rs11168930
Chromosome Location	chr12:49628697-49628698
allele	C/T
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49624204..49632381-chr12:49656851..49664182,36	K562	blood:
2	chr12:49484424..49486787-chr12:49626950..49628768,2	K562	blood:
3	chr12:49495156..49497539-chr12:49627737..49630589,2	MCF-7	breast:
4	chr12:49627964..49628871-chrX:154842972..154843491,2	Hela-S3	cervix:
5	chr12:49628076..49629914-chr12:49660607..49662737,2	MCF-7	breast:
6	chr12:49628216..49628907-chr5:33441080..33441962,2	Hela-S3	cervix:
7	chr12:49627091..49630045-chr12:49647467..49650114,2	MCF-7	breast:
8	chr12:49581061..49584023-chr12:49626756..49629853,3	K562	blood:
9	chr12:49619700..49621201-chr12:49627678..49629883,2	MCF-7	breast:
10	chr12:49524620..49525974-chr12:49627554..49629013,4	NB4	blood:
11	chr12:49480667..49484099-chr12:49627128..49630502,6	K562	blood:
12	chr12:49524425..49525138-chr12:49628498..49629103,2	Hela-S3	cervix:
13	chr12:49628441..49630011-chr12:49661441..49664264,2	MCF-7	breast:
14	chr12:49481716..49483159-chr12:49628651..49629622,5	MCF-7	breast:
15	chr12:49628615..49630966-chr12:49665293..49667047,2	K562	blood:
16	chr12:49523058..49526558-chr12:49627579..49630702,9	MCF-7	breast:
17	chr12:49626870..49630016-chr12:49656039..49660011,4	MCF-7	breast:
18	chr12:49628391..49630050-chr12:49633833..49636685,2	MCF-7	breast:
19	chr12:49582252..49584303-chr12:49626991..49629513,3	MCF-7	breast:
20	chr12:49624371..49632888-chr12:49655742..49664182,29	K562	blood:
21	chr12:49628644..49630691-chr12:49633942..49636514,2	MCF-7	breast:
22	chr12:49502278..49504083-chr12:49627127..49629161,2	K562	blood:
23	chr12:49518847..49527600-chr12:49624546..49632235,69	K562	blood:
24	chr12:49626415..49629874-chr12:49642724..49645857,3	MCF-7	breast:
25	chr12:49626201..49630727-chr12:49631926..49634972,10	K562	blood:
26	chr12:49628427..49630609-chr12:49637819..49639701,2	MCF-7	breast:
27	chr12:49367591..49368155-chr12:49628595..49629199,2	K562	blood:
28	chr12:49611550..49615135-chr12:49626761..49630349,3	MCF-7	breast:
29	chr12:49625768..49629972-chr12:49657225..49660229,8	MCF-7	breast:
30	chr12:49484658..49486546-chr12:49627171..49629084,2	K562	blood:
31	chr12:49487030..49490024-chr12:49627022..49629311,2	K562	blood:
32	chr12:49523889..49527940-chr12:49626125..49630578,10	MCF-7	breast:
33	chr12:49580612..49583821-chr12:49626954..49630010,6	MCF-7	breast:
34	chr12:49524637..49525387-chr12:49628061..49628791,2	MCF-7	breast:
35	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258101	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000113407	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000139549	Chromatin interaction
ENSG00000200309	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10467103	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11168921	0.84[AMR][1000 genomes]
rs12824458	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34367716	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59976042	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68128447	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv518041	chr12:49618043-49645240	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49625800-49629400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:49626200-49629000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr12:49626600-49629400	Enhancers	Spleen	Spleen
4	chr12:49626800-49629000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr12:49626800-49629200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr12:49626800-49629200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:49626800-49629200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:49627200-49629000	Active TSS	Duodenum Mucosa	Duodenum
9	chr12:49627400-49629200	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr12:49627800-49629000	Active TSS	Brain Substantia Nigra	brain
11	chr12:49627800-49629200	Active TSS	Primary T cells from cord blood	blood
12	chr12:49627800-49629200	Active TSS	Colonic Mucosa	Colon
13	chr12:49627800-49629200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:49628000-49629200	Active TSS	Brain Anterior Caudate	brain
15	chr12:49628000-49629400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:49628200-49628800	Active TSS	NHLF	lung
17	chr12:49628200-49629000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:49628200-49629000	Active TSS	Brain Cingulate Gyrus	brain
19	chr12:49628200-49629000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:49628200-49629000	Active TSS	Fetal Brain Male	brain
21	chr12:49628200-49629000	Active TSS	Stomach Mucosa	stomach
22	chr12:49628200-49629000	Active TSS	HSMMtube	muscle
23	chr12:49628200-49629200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr12:49628200-49629200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:49628200-49629200	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr12:49628200-49629200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:49628200-49629200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:49628200-49629200	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr12:49628200-49629200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr12:49628200-49629200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:49628200-49629200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:49628200-49629200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:49628200-49629200	Active TSS	Adipose Nuclei	Adipose
34	chr12:49628200-49629200	Active TSS	Brain Germinal Matrix	brain
35	chr12:49628200-49629200	Active TSS	Brain Hippocampus Middle	brain
36	chr12:49628200-49629200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:49628200-49629200	Active TSS	Colon Smooth Muscle	Colon
38	chr12:49628200-49629200	Active TSS	Fetal Kidney	kidney
39	chr12:49628200-49629200	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr12:49628200-49629200	Active TSS	Rectal Smooth Muscle	rectum
41	chr12:49628200-49629200	Active TSS	A549	lung
42	chr12:49628200-49629200	Active TSS	NHEK	skin
43	chr12:49628200-49629400	Active TSS	Fetal Brain Female	brain
44	chr12:49628400-49628800	Active TSS	Primary T cells fromperipheralblood	blood
45	chr12:49628400-49628800	Active TSS	Muscle Satellite Cultured Cells	--
46	chr12:49628400-49628800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:49628400-49628800	Active TSS	Fetal Thymus	thymus
48	chr12:49628400-49628800	Active TSS	Lung	lung
49	chr12:49628400-49628800	Active TSS	Pancreas	Pancrea
50	chr12:49628400-49628800	Active TSS	NHDF-Ad	bronchial

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