Variant report

Variant	rs475805
Chromosome Location	chr11:65848738-65848739
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: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	chr11:65619884..65621814-chr11:65847924..65850674,2	K562	blood:
2	chr11:65847681..65850551-chr11:65884444..65887331,2	MCF-7	breast:
3	chr11:65847868..65850346-chr11:65885324..65888259,3	MCF-7	breast:
4	chr11:65654439..65656830-chr11:65847321..65849529,2	K562	blood:
5	chr11:65844532..65851114-chr11:65890610..65896417,9	MCF-7	breast:
6	chr11:65847293..65849412-chr11:65902242..65904368,2	MCF-7	breast:
7	chr11:65848212..65850914-chr11:65878151..65882028,6	MCF-7	breast:
8	chr11:65768443..65770913-chr11:65847683..65849504,2	MCF-7	breast:
9	chr11:65836657..65839642-chr11:65847267..65850569,3	K562	blood:
10	chr11:65843731..65845242-chr11:65847002..65849986,2	K562	blood:
11	chr11:65837445..65841623-chr11:65846203..65851019,6	MCF-7	breast:
12	chr11:65817703..65819765-chr11:65847200..65849726,3	MCF-7	breast:
13	chr11:65846645..65848956-chr11:65849527..65852438,2	K562	blood:
14	chr11:65840513..65843599-chr11:65845942..65848991,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255038	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000175376	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10791853	0.80[ASN][1000 genomes]
rs10896092	0.81[ASN][1000 genomes]
rs12049852	0.83[ASN][1000 genomes]
rs1717671	0.80[ASN][1000 genomes]
rs1987678	0.85[ASN][1000 genomes]
rs3088328	0.90[ASN][1000 genomes]
rs471484	0.81[ASN][1000 genomes]
rs472518	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs485857	0.80[ASN][1000 genomes]
rs488320	0.83[ASN][1000 genomes]
rs524281	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs527897	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs535395	0.85[ASN][1000 genomes]
rs547087	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs549187	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs565198	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs571434	0.83[ASN][1000 genomes]
rs7937281	0.81[ASN][1000 genomes]
rs7941469	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65839000-65849800	Weak transcription	Psoas Muscle	Psoas
2	chr11:65839400-65848800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:65839400-65850400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:65839400-65850400	Weak transcription	Fetal Intestine Large	intestine
5	chr11:65839400-65850800	Weak transcription	Liver	Liver
6	chr11:65839400-65850800	Weak transcription	Fetal Kidney	kidney
7	chr11:65839400-65850800	Weak transcription	Right Ventricle	heart
8	chr11:65839600-65850400	Weak transcription	Brain Substantia Nigra	brain
9	chr11:65839600-65854600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:65840600-65850800	Weak transcription	Brain Germinal Matrix	brain
11	chr11:65840600-65870600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:65840800-65850400	Weak transcription	Fetal Brain Male	brain
13	chr11:65840800-65850800	Weak transcription	Brain Angular Gyrus	brain
14	chr11:65842000-65849600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:65842200-65848800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:65842200-65850400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:65842200-65850600	Weak transcription	Fetal Lung	lung
18	chr11:65842200-65867800	Weak transcription	Ovary	ovary
19	chr11:65842400-65851800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:65843600-65851400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:65845200-65854400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:65845800-65868800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:65846200-65850000	Enhancers	Placenta	Placenta
24	chr11:65846200-65853600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:65846400-65850400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:65847200-65848800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr11:65847200-65848800	Enhancers	Thymus	Thymus
28	chr11:65847200-65849000	Enhancers	HepG2	liver
29	chr11:65847200-65849200	Enhancers	Brain Anterior Caudate	brain
30	chr11:65847200-65849400	Enhancers	Stomach Mucosa	stomach
31	chr11:65847200-65850000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:65847200-65850000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:65847200-65850000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr11:65847200-65852000	Enhancers	Duodenum Mucosa	Duodenum
35	chr11:65847400-65848800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:65847400-65849800	Enhancers	Adipose Nuclei	Adipose
37	chr11:65847400-65851400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:65847400-65851600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr11:65847600-65848800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:65847600-65848800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr11:65847600-65848800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:65847600-65849000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:65847600-65849400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr11:65847600-65849400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:65847600-65849400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:65847600-65849400	Enhancers	Rectal Smooth Muscle	rectum
47	chr11:65847600-65849800	Enhancers	Colon Smooth Muscle	Colon
48	chr11:65847600-65851600	Enhancers	Small Intestine	intestine
49	chr11:65847600-65851600	Enhancers	NHDF-Ad	bronchial
50	chr11:65847600-65852000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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