Variant report

Variant	rs11227619
Chromosome Location	chr11:66659544-66659545
allele	C/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66657827..66660599-chr11:66663210..66665757,3	K562	blood:
2	chr11:66659430..66661000-chr11:66669992..66672948,2	MCF-7	breast:
3	chr11:66650937..66653483-chr11:66658132..66659731,2	K562	blood:
4	chr11:66659348..66661301-chr11:66688129..66690167,2	K562	blood:
5	chr11:66623372..66626021-chr11:66657279..66659688,2	MCF-7	breast:
6	chr11:66659283..66661116-chr11:66788722..66791137,2	MCF-7	breast:
7	chr11:66657847..66661225-chr11:66662728..66665638,3	K562	blood:
8	chr11:66658390..66661690-chr11:66751725..66755262,3	K562	blood:
9	chr11:66658457..66661060-chr11:66702297..66704086,2	K562	blood:
10	chr11:66654286..66656350-chr11:66657675..66659799,2	K562	blood:
11	chr11:66622700..66625658-chr11:66659292..66661348,2	MCF-7	breast:
12	chr11:66609303..66612781-chr11:66657262..66661414,5	K562	blood:
13	chr11:66652570..66655169-chr11:66658075..66659749,2	MCF-7	breast:
14	chr11:66657413..66662477-chr11:66721279..66726876,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173599	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000173653	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11227600	0.82[AFR][1000 genomes]
rs11227601	0.82[AFR][1000 genomes]
rs11227613	0.93[AFR][1000 genomes]
rs11227617	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11227620	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11227622	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7119676	0.84[CHD][hapmap]

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	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
5	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66639400-66659800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:66646000-66660800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:66651000-66659600	Weak transcription	Lung	lung
4	chr11:66651000-66664000	Weak transcription	Right Ventricle	heart
5	chr11:66651200-66659600	Weak transcription	Esophagus	oesophagus
6	chr11:66651200-66665600	Weak transcription	Brain Germinal Matrix	brain
7	chr11:66651200-66669800	Weak transcription	Fetal Intestine Small	intestine
8	chr11:66651200-66673200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:66651400-66678400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:66653600-66659800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:66654200-66659600	Weak transcription	Gastric	stomach
12	chr11:66654600-66659600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:66654600-66659800	Weak transcription	Brain Anterior Caudate	brain
14	chr11:66654600-66660400	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:66654600-66673800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:66654800-66659600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:66655600-66661600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:66656200-66659600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:66656200-66659600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:66656200-66668600	Weak transcription	Liver	Liver
21	chr11:66657200-66659600	Enhancers	Hela-S3	cervix
22	chr11:66657600-66659800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:66657800-66659600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:66657800-66659600	Weak transcription	Brain Substantia Nigra	brain
25	chr11:66657800-66659800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:66657800-66660400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:66657800-66660400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:66657800-66660600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:66657800-66661400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:66658000-66659800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:66658000-66659800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:66658000-66660600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:66658200-66660400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:66658400-66660000	Weak transcription	Psoas Muscle	Psoas
35	chr11:66658400-66660400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:66658400-66660400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:66659000-66660400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:66659000-66660400	Enhancers	NHEK	skin
39	chr11:66659000-66660600	Enhancers	HepG2	liver
40	chr11:66659000-66661000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:66659200-66659600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:66659200-66660000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:66659200-66660000	Enhancers	Fetal Kidney	kidney
44	chr11:66659200-66660200	Enhancers	HUVEC	blood vessel
45	chr11:66659200-66660600	Enhancers	NH-A	brain
46	chr11:66659200-66660800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:66659200-66661000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr11:66659200-66661000	Flanking Active TSS	A549	lung
49	chr11:66659200-66661000	Enhancers	Osteobl	bone
50	chr11:66659200-66661200	Enhancers	HMEC	breast

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