Variant report

Variant	rs34493482
Chromosome Location	chr11:67969508-67969509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67806702..67808543-chr11:67969108..67970985,2	MCF-7	breast:
2	chr11:67968944..67971871-chr11:67979826..67982872,4	K562	blood:
3	chr11:67960666..67964269-chr11:67968091..67969838,3	K562	blood:
4	chr11:67804211..67806596-chr11:67968112..67970717,2	MCF-7	breast:
5	chr11:67967233..67971539-chr11:67979750..67982178,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110719	Chromatin interaction
ENSG00000110066	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10896298	0.87[ASN][1000 genomes]
rs10896301	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896303	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896304	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896305	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12225316	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1894204	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2011157	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2054865	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34236202	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4345973	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930228	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4930229	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930230	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930561	0.87[ASN][1000 genomes]
rs4930563	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4930564	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61890513	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7950452	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34493482	SUV420H1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67915000-67973800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:67947400-67971200	Weak transcription	Fetal Kidney	kidney
3	chr11:67947400-67971400	Weak transcription	Spleen	Spleen
4	chr11:67952600-67977000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:67953000-67976800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:67953800-67978600	Weak transcription	Aorta	Aorta
7	chr11:67954000-67976200	Weak transcription	Placenta	Placenta
8	chr11:67954200-67976800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:67954400-67976800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:67954600-67971200	Weak transcription	Brain Germinal Matrix	brain
11	chr11:67954600-67976600	Weak transcription	Thymus	Thymus
12	chr11:67956400-67978600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:67956600-67969800	Weak transcription	Hela-S3	cervix
14	chr11:67956800-67971600	Weak transcription	Fetal Thymus	thymus
15	chr11:67957000-67973400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:67957000-67973600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:67957600-67973400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:67957600-67976200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:67957600-67976400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:67957800-67971600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:67958600-67973800	Weak transcription	Fetal Stomach	stomach
22	chr11:67959000-67972600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:67959200-67976400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:67959600-67974400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:67960200-67976400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:67960800-67971400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:67960800-67976800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:67962800-67973400	Weak transcription	Primary T cells from cord blood	blood
29	chr11:67964400-67969600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:67964400-67973400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:67965200-67971800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:67965800-67970200	Enhancers	Brain Hippocampus Middle	brain
33	chr11:67966000-67971400	Weak transcription	Esophagus	oesophagus
34	chr11:67966200-67971400	Weak transcription	GM12878-XiMat	blood
35	chr11:67966200-67976400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:67966200-67976600	Weak transcription	NHEK	skin
37	chr11:67966400-67969800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr11:67966600-67970000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:67966600-67970000	Enhancers	A549	lung
40	chr11:67966600-67971600	Weak transcription	Primary B cells from cord blood	blood
41	chr11:67966800-67970000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:67967000-67969800	Enhancers	Brain Angular Gyrus	brain
43	chr11:67967400-67969800	Enhancers	Fetal Lung	lung
44	chr11:67967400-67971000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:67967400-67973800	Weak transcription	Fetal Intestine Large	intestine
46	chr11:67967400-67976000	Weak transcription	Fetal Intestine Small	intestine
47	chr11:67967600-67969800	Enhancers	Brain Cingulate Gyrus	brain
48	chr11:67967600-67970000	Enhancers	HepG2	liver
49	chr11:67967800-67969800	Weak transcription	Lung	lung
50	chr11:67968000-67971000	Weak transcription	Rectal Mucosa Donor 29	rectum

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