Variant report

Variant	rs11227574
Chromosome Location	chr11:66467887-66467888
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66459817..66461573-chr11:66466529..66468513,2	K562	blood:
2	chr11:66466709..66469416-chr11:66599980..66602428,2	MCF-7	breast:
3	chr11:66467061..66471103-chr11:66486078..66489468,3	MCF-7	breast:
4	chr11:66467722..66469493-chr11:66475965..66478648,2	K562	blood:
5	chr11:66466386..66469283-chr11:66602977..66604850,2	MCF-7	breast:
6	chr11:66444416..66447131-chr11:66467502..66470141,2	K562	blood:
7	chr11:66467323..66468074-chr11:66743105..66743888,2	K562	blood:
8	chr11:66459556..66461702-chr11:66466375..66468900,2	MCF-7	breast:
9	chr11:66466584..66468800-chr11:66475005..66476918,2	MCF-7	breast:
10	chr11:66464627..66468274-chr11:66508302..66512299,4	MCF-7	breast:
11	chr11:66464609..66468025-chr11:66478918..66483442,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173715	Chromatin interaction
ENSG00000239553	Chromatin interaction
ENSG00000173898	Chromatin interaction
ENSG00000173914	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11227532	0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11227539	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11227554	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs11227560	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[ASN][1000 genomes]
rs11227562	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11227570	0.96[ASN][1000 genomes]
rs11227587	0.84[ASN][1000 genomes]
rs11227591	0.84[ASN][1000 genomes]
rs11227600	0.81[ASN][1000 genomes]
rs11227601	0.81[ASN][1000 genomes]
rs12049897	0.97[ASN][1000 genomes]
rs12223171	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12225302	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs2229456	1.00[JPT][hapmap]
rs2275998	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs2276136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

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	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv518919	chr11:66409409-66468469	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv897791	chr11:66442855-66533469	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv427891	chr11:66456140-66606701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11227574	CCS	cis	lymphoblastoid	seeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66446200-66468000	Weak transcription	Lung	lung
2	chr11:66446200-66468600	Weak transcription	Right Ventricle	heart
3	chr11:66446200-66480200	Weak transcription	Fetal Kidney	kidney
4	chr11:66446200-66485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:66452200-66485600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:66452800-66473800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:66453000-66483400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:66456400-66494600	Weak transcription	Right Atrium	heart
9	chr11:66458600-66469200	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr11:66459000-66472200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:66462600-66484000	Weak transcription	Brain Substantia Nigra	brain
12	chr11:66462800-66472200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:66462800-66481000	Weak transcription	HMEC	breast
14	chr11:66462800-66484400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:66463000-66469600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:66463000-66472000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:66463000-66485000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:66463200-66470200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr11:66463400-66469400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:66463400-66470200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:66463400-66471800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:66463600-66468000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:66463600-66468800	Strong transcription	Brain Cingulate Gyrus	brain
24	chr11:66463600-66469400	Strong transcription	Pancreas	Pancrea
25	chr11:66463600-66469600	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr11:66463600-66469800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:66463600-66470000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:66463600-66470000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:66463800-66469600	Strong transcription	Brain Angular Gyrus	brain
30	chr11:66464000-66468000	Strong transcription	K562	blood
31	chr11:66464000-66468800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:66464400-66469600	Strong transcription	Brain Anterior Caudate	brain
33	chr11:66465000-66469600	Strong transcription	NHEK	skin
34	chr11:66465000-66470200	Strong transcription	Hela-S3	cervix
35	chr11:66465200-66469200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:66465200-66469400	Strong transcription	Brain Hippocampus Middle	brain
37	chr11:66465400-66471800	Weak transcription	Thymus	Thymus
38	chr11:66465600-66487000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:66465800-66468400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:66465800-66469600	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr11:66465800-66469600	Strong transcription	A549	lung
42	chr11:66465800-66480200	Weak transcription	Fetal Brain Male	brain
43	chr11:66466000-66468400	Weak transcription	Fetal Thymus	thymus
44	chr11:66466200-66468400	ZNF genes & repeats	Fetal Stomach	stomach
45	chr11:66466400-66469200	Strong transcription	Esophagus	oesophagus
46	chr11:66466600-66468200	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr11:66466600-66468600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
48	chr11:66466800-66468200	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr11:66467000-66468000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:66467000-66468800	ZNF genes & repeats	Brain Germinal Matrix	brain

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