Variant report

Variant	rs9704166
Chromosome Location	chr11:65850324-65850325
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65619884..65621814-chr11:65847924..65850674,2	K562	blood:
2	chr11:65814916..65817348-chr11:65848877..65850411,2	K562	blood:
3	chr11:65847681..65850551-chr11:65884444..65887331,2	MCF-7	breast:
4	chr11:65847868..65850346-chr11:65885324..65888259,3	MCF-7	breast:
5	chr11:65844532..65851114-chr11:65890610..65896417,9	MCF-7	breast:
6	chr11:65850193..65852902-chr11:66111593..66113196,2	MCF-7	breast:
7	chr11:65848212..65850914-chr11:65878151..65882028,6	MCF-7	breast:
8	chr11:65836657..65839642-chr11:65847267..65850569,3	K562	blood:
9	chr11:65849463..65852379-chr11:66024191..66026545,2	K562	blood:
10	chr1:145381411..145383817-chr11:65849842..65852203,2	MCF-7	breast:
11	chr11:65837445..65841623-chr11:65846203..65851019,6	MCF-7	breast:
12	chr11:65654594..65656480-chr11:65848880..65851795,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175115	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000233396	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10750773	0.83[AMR][1000 genomes]
rs11822080	1.00[AMR][1000 genomes]
rs17147342	1.00[AMR][1000 genomes]
rs548858	0.83[AMR][1000 genomes]
rs558480	0.83[AMR][1000 genomes]
rs6591204	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7131001	0.83[AMR][1000 genomes]
rs7928507	1.00[AMR][1000 genomes]
rs7937763	0.83[AMR][1000 genomes]
rs7941487	1.00[AMR][1000 genomes]
rs9285797	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9326366	0.83[AMR][1000 genomes]
rs9326367	0.83[AMR][1000 genomes]
rs9667583	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9667922	0.83[AMR][1000 genomes]
rs9737244	0.88[AFR][1000 genomes]
rs9737415	0.88[AFR][1000 genomes];1.00[AMR][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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65839400-65850400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:65839400-65850400	Weak transcription	Fetal Intestine Large	intestine
3	chr11:65839400-65850800	Weak transcription	Liver	Liver
4	chr11:65839400-65850800	Weak transcription	Fetal Kidney	kidney
5	chr11:65839400-65850800	Weak transcription	Right Ventricle	heart
6	chr11:65839600-65850400	Weak transcription	Brain Substantia Nigra	brain
7	chr11:65839600-65854600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:65840600-65850800	Weak transcription	Brain Germinal Matrix	brain
9	chr11:65840600-65870600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:65840800-65850400	Weak transcription	Fetal Brain Male	brain
11	chr11:65840800-65850800	Weak transcription	Brain Angular Gyrus	brain
12	chr11:65842200-65850400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:65842200-65850600	Weak transcription	Fetal Lung	lung
14	chr11:65842200-65867800	Weak transcription	Ovary	ovary
15	chr11:65842400-65851800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:65843600-65851400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:65845200-65854400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:65845800-65868800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:65846200-65853600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:65846400-65850400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:65847200-65852000	Enhancers	Duodenum Mucosa	Duodenum
22	chr11:65847400-65851400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:65847400-65851600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr11:65847600-65851600	Enhancers	Small Intestine	intestine
25	chr11:65847600-65851600	Enhancers	NHDF-Ad	bronchial
26	chr11:65847600-65852000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:65847600-65852000	Enhancers	HUVEC	blood vessel
28	chr11:65847600-65852800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr11:65847600-65852800	Enhancers	Osteobl	bone
30	chr11:65847600-65853000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:65847800-65851600	Enhancers	HSMMtube	muscle
32	chr11:65848000-65850600	Weak transcription	Fetal Brain Female	brain
33	chr11:65848000-65850800	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:65848000-65851000	Weak transcription	Esophagus	oesophagus
35	chr11:65848000-65851000	Weak transcription	Pancreas	Pancrea
36	chr11:65848000-65851600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:65848000-65854800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:65848200-65851000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:65848200-65851400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:65848200-65851600	Weak transcription	Lung	lung
41	chr11:65848400-65850800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:65848400-65850800	Weak transcription	Fetal Stomach	stomach
43	chr11:65848400-65851000	Weak transcription	Right Atrium	heart
44	chr11:65848400-65851000	Weak transcription	Spleen	Spleen
45	chr11:65848400-65874200	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:65848800-65850400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:65848800-65851400	Enhancers	Brain Cingulate Gyrus	brain
48	chr11:65849000-65850400	Weak transcription	HepG2	liver
49	chr11:65849000-65850800	Weak transcription	Gastric	stomach
50	chr11:65849000-65851000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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