Variant report

Variant	rs16905815
Chromosome Location	chr11:8798067-8798068
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr11:8797903-8798103	HepG2	liver:	n/a	n/a
2	MAFK	chr11:8797869-8798094	HepG2	liver:	n/a	n/a
3	FOXA2	chr11:8797821-8798104	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:8797772-8798153	HepG2	liver:	n/a	n/a
5	MAFK	chr11:8797930-8798072	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:8797786-8798132	HepG2	liver:	n/a	n/a
7	MAX	chr11:8797955-8798096	HepG2	liver:	n/a	chr11:8798023-8798033

No.	Distal block	Cell Line	Cell type
1	chr11:8709428..8711935-chr11:8797742..8799466,2	K562	blood:
2	chr11:8792754..8796675-chr11:8797137..8799307,3	K562	blood:
3	chr11:8708821..8711720-chr11:8797773..8800794,3	MCF-7	breast:
4	chr11:8719301..8720930-chr11:8796904..8798885,2	K562	blood:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166441	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12224436	0.91[YRI][hapmap]
rs4929911	0.91[YRI][hapmap]
rs56210429	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56388022	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57145477	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58419940	1.00[AMR][1000 genomes]
rs59279926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59314560	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59524952	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59974779	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60980006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6484494	0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053135	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053141	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053166	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054204	0.87[AFR][1000 genomes]
rs74054210	1.00[AMR][1000 genomes]
rs74054216	1.00[AMR][1000 genomes]
rs74054218	1.00[AMR][1000 genomes]
rs7944416	1.00[AMR][1000 genomes]
rs7944777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945378	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949286	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8779600-8799600	Weak transcription	Fetal Brain Male	brain
2	chr11:8785200-8799400	Enhancers	Fetal Heart	heart
3	chr11:8786600-8803000	Enhancers	Ovary	ovary
4	chr11:8788600-8799600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:8788800-8801400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:8788800-8808400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:8789000-8801200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:8789400-8807600	Weak transcription	Fetal Kidney	kidney
9	chr11:8789600-8799400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:8789600-8805800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:8791400-8810400	Weak transcription	Hela-S3	cervix
12	chr11:8792600-8802400	Genic enhancers	Fetal Stomach	stomach
13	chr11:8793200-8801600	Genic enhancers	Fetal Muscle Leg	muscle
14	chr11:8794000-8799400	Enhancers	Spleen	Spleen
15	chr11:8794200-8798200	Enhancers	Lung	lung
16	chr11:8794200-8798400	Enhancers	Right Atrium	heart
17	chr11:8794200-8799400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:8794200-8801000	Enhancers	Pancreas	Pancrea
19	chr11:8794200-8803000	Enhancers	Left Ventricle	heart
20	chr11:8794400-8798200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:8794600-8803000	Enhancers	Right Ventricle	heart
22	chr11:8795000-8799600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:8795000-8801400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:8795000-8809800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:8795200-8799000	Weak transcription	Fetal Lung	lung
26	chr11:8795200-8799400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:8795200-8799400	Weak transcription	Brain Anterior Caudate	brain
28	chr11:8795200-8799400	Weak transcription	NH-A	brain
29	chr11:8795200-8799400	Weak transcription	Osteobl	bone
30	chr11:8795600-8798200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:8795600-8802600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr11:8796000-8798200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:8796000-8798200	Enhancers	Stomach Mucosa	stomach
34	chr11:8796200-8798200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:8796200-8798200	Enhancers	HMEC	breast
36	chr11:8796200-8798800	Enhancers	Fetal Muscle Trunk	muscle
37	chr11:8796200-8799400	Weak transcription	Brain Angular Gyrus	brain
38	chr11:8796200-8799600	Weak transcription	Fetal Intestine Large	intestine
39	chr11:8796200-8801200	Enhancers	HSMMtube	muscle
40	chr11:8796200-8808000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:8796400-8798200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:8796400-8798800	Weak transcription	GM12878-XiMat	blood
43	chr11:8796400-8800000	Weak transcription	Fetal Thymus	thymus
44	chr11:8796800-8798200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:8796800-8798400	Enhancers	Gastric	stomach
46	chr11:8796800-8798600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:8796800-8798600	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr11:8796800-8799400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:8796800-8799600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:8796800-8800000	Weak transcription	Colonic Mucosa	Colon

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