Variant report

Variant	rs3850933
Chromosome Location	chr11:8801135-8801136
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8799185..8801776-chr11:8804867..8806861,2	K562	blood:

Variant related genes	Relation type
ENSG00000255159	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10160684	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10500705	0.88[EUR][1000 genomes]
rs10500707	0.83[EUR][1000 genomes]
rs10732515	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10734636	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10734637	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743087	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10743088	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10743089	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769952	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769953	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10769954	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769959	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1079452	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042058	0.83[EUR][1000 genomes]
rs11042066	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042068	0.83[EUR][1000 genomes]
rs11603335	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2173999	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2292045	0.87[EUR][1000 genomes]
rs2292046	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2873297	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34090393	0.85[EUR][1000 genomes]
rs34524863	0.85[EUR][1000 genomes]
rs35670750	0.86[EUR][1000 genomes]
rs3751071	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3763920	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3842991	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3844099	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3844100	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3862352	0.83[EUR][1000 genomes]
rs3913547	0.85[AFR][1000 genomes]
rs4929910	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4929931	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4929934	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4929936	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6484008	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6484425	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7120004	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7934519	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7952335	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs905289	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv553447	chr11:8792622-8825966	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8786600-8803000	Enhancers	Ovary	ovary
2	chr11:8788800-8801400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:8788800-8808400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:8789000-8801200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:8789400-8807600	Weak transcription	Fetal Kidney	kidney
6	chr11:8789600-8805800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:8791400-8810400	Weak transcription	Hela-S3	cervix
8	chr11:8792600-8802400	Genic enhancers	Fetal Stomach	stomach
9	chr11:8793200-8801600	Genic enhancers	Fetal Muscle Leg	muscle
10	chr11:8794200-8803000	Enhancers	Left Ventricle	heart
11	chr11:8794600-8803000	Enhancers	Right Ventricle	heart
12	chr11:8795000-8801400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:8795000-8809800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:8795600-8802600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr11:8796200-8801200	Enhancers	HSMMtube	muscle
16	chr11:8796200-8808000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:8797000-8801200	Enhancers	Aorta	Aorta
18	chr11:8797400-8801800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:8797400-8808200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:8797800-8801800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:8797800-8827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:8798200-8808200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:8798200-8808400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:8798200-8810000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:8798400-8803200	Strong transcription	Liver	Liver
26	chr11:8798600-8807400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:8798800-8801200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:8799000-8801600	Enhancers	Stomach Mucosa	stomach
29	chr11:8799200-8801400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:8799400-8801200	Enhancers	Brain Anterior Caudate	brain
31	chr11:8799400-8801600	Enhancers	Fetal Muscle Trunk	muscle
32	chr11:8799400-8803000	Enhancers	Right Atrium	heart
33	chr11:8799600-8801400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:8799600-8801600	Enhancers	Esophagus	oesophagus
35	chr11:8799600-8801800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:8799600-8801800	Enhancers	Small Intestine	intestine
37	chr11:8799600-8801800	Genic enhancers	Spleen	Spleen
38	chr11:8799600-8802200	Enhancers	Brain Substantia Nigra	brain
39	chr11:8799600-8802400	Enhancers	Duodenum Mucosa	Duodenum
40	chr11:8799600-8803200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:8799600-8807000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:8799800-8801200	Enhancers	HMEC	breast
43	chr11:8799800-8801600	Genic enhancers	Lung	lung
44	chr11:8799800-8802200	Enhancers	Fetal Heart	heart
45	chr11:8799800-8808200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:8800000-8801200	Genic enhancers	Placenta	Placenta
47	chr11:8800000-8801400	Enhancers	Rectal Smooth Muscle	rectum
48	chr11:8800000-8801600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:8800000-8801800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:8800000-8801800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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