Variant report

Variant	rs1127145
Chromosome Location	chr11:66373305-66373306
allele	A/C/G/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: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	chr11:66366106..66376502-chr11:66378243..66386807,17	K562	blood:
2	chr11:66363130..66364749-chr11:66372166..66374621,2	MCF-7	breast:
3	chr11:66372340..66374886-chr11:66390314..66393564,3	K562	blood:
4	chr11:66360472..66362276-chr11:66372107..66374693,3	MCF-7	breast:
5	chr11:66371248..66380060-chr11:66381222..66386481,17	MCF-7	breast:
6	chr11:66369093..66371332-chr11:66372275..66374529,3	MCF-7	breast:
7	chr11:66373116..66374027-chr11:66650670..66651327,5	MCF-7	breast:
8	chr11:66372929..66374706-chr11:66388888..66391627,2	MCF-7	breast:
9	chr11:66373172..66373871-chr11:66650649..66651352,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239306	Chromatin interaction
ENSG00000199325	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000173992	Chromatin interaction
ENSG00000182791	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10896128	0.83[EUR][1000 genomes]
rs11550057	1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11828542	1.00[ASN][1000 genomes]
rs15969	1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2380758	1.00[ASN][1000 genomes]
rs3802743	1.00[ASN][1000 genomes]
rs3867132	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs3867133	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4397861	1.00[ASN][1000 genomes]
rs57043177	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57127845	0.83[EUR][1000 genomes]
rs57466874	1.00[ASN][1000 genomes]
rs59320108	0.83[EUR][1000 genomes]
rs59431265	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59550560	1.00[ASN][1000 genomes]
rs59566349	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1127145	CCS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66361400-66382800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:66361400-66383400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:66361600-66374400	Weak transcription	Psoas Muscle	Psoas
4	chr11:66361600-66377000	Weak transcription	HUVEC	blood vessel
5	chr11:66362200-66377200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:66363000-66377200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:66363200-66383200	Weak transcription	Fetal Kidney	kidney
8	chr11:66363400-66382800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:66363400-66383200	Weak transcription	Fetal Brain Male	brain
10	chr11:66363600-66374600	Weak transcription	Stomach Mucosa	stomach
11	chr11:66363600-66377200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:66363800-66377400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:66366000-66374200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:66366400-66373800	Strong transcription	Brain Anterior Caudate	brain
15	chr11:66366400-66374400	Strong transcription	Placenta	Placenta
16	chr11:66366400-66374600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:66366400-66374600	Strong transcription	Fetal Intestine Small	intestine
18	chr11:66366400-66375000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:66366400-66375200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:66366400-66375200	Strong transcription	Primary T cells from cord blood	blood
21	chr11:66366400-66375200	Strong transcription	Fetal Thymus	thymus
22	chr11:66366400-66375600	Strong transcription	Thymus	Thymus
23	chr11:66366400-66376000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:66366600-66373600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr11:66366600-66373600	Strong transcription	Fetal Lung	lung
26	chr11:66366600-66374000	Strong transcription	Fetal Intestine Large	intestine
27	chr11:66367400-66383400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:66368600-66375200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:66369000-66374600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:66369400-66373600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:66369400-66373800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:66369400-66374800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:66369600-66373800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:66369800-66373800	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr11:66369800-66373800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr11:66369800-66374000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr11:66369800-66375000	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr11:66370000-66373800	Strong transcription	Rectal Smooth Muscle	rectum
39	chr11:66370000-66374200	Strong transcription	Colon Smooth Muscle	Colon
40	chr11:66370000-66374400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:66370200-66374400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:66370400-66374400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:66370400-66374400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:66370400-66374400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:66370400-66374400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:66370400-66374600	Weak transcription	NH-A	brain
47	chr11:66370400-66375200	Strong transcription	Fetal Stomach	stomach
48	chr11:66370400-66375600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr11:66370600-66374200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:66370600-66374400	Strong transcription	Fetal Muscle Leg	muscle

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