Variant report

Variant	rs11164009
Chromosome Location	chr1:85039318-85039319
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:84966614..84978118-chr1:85034515..85041986,38	K562	blood:
2	chr1:85038587..85040484-chr1:85154316..85157145,3	K562	blood:
3	chr1:84966967..84974535-chr1:85036439..85041823,24	K562	blood:
4	chr1:84943703..84948095-chr1:85037647..85043843,8	K562	blood:
5	chr1:85039171..85040042-chr3:152879140..152880139,2	Hela-S3	cervix:
6	chr1:85039173..85039675-chr10:11935989..11936783,2	NB4	blood:
7	chr1:85037440..85039387-chr1:85215533..85217595,2	K562	blood:
8	chr1:84943714..84946459-chr1:85038706..85040687,2	K562	blood:
9	chr1:85038984..85041113-chr1:85155645..85157338,2	K562	blood:
10	chr1:84971888..84972401-chr1:85038907..85039676,2	Hela-S3	cervix:
11	chr1:84981895..84983594-chr1:85038759..85040423,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000244268	Chromatin interaction
ENSG00000225778	Chromatin interaction
ENSG00000181467	Chromatin interaction
ENSG00000174021	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000117133	Chromatin interaction
ENSG00000117155	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1043493	0.91[GIH][hapmap]
rs10493753	0.83[GIH][hapmap]
rs1156435	0.91[GIH][hapmap]
rs12084159	0.94[EUR][1000 genomes]
rs17099163	0.91[GIH][hapmap]
rs17110157	0.91[GIH][hapmap]
rs17111308	0.91[GIH][hapmap]
rs17111464	0.91[GIH][hapmap]
rs57674741	0.83[EUR][1000 genomes]
rs58537059	0.83[EUR][1000 genomes]
rs6679620	0.94[EUR][1000 genomes]
rs6681870	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6692607	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7533783	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85014800-85039600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:85017400-85039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:85028800-85039600	Weak transcription	Gastric	stomach
4	chr1:85034600-85039400	Weak transcription	Esophagus	oesophagus
5	chr1:85035400-85039400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:85035400-85039400	Weak transcription	Pancreas	Pancrea
7	chr1:85037400-85041200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:85037600-85039600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:85037800-85041200	Active TSS	GM12878-XiMat	blood
10	chr1:85038000-85039600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:85038200-85039600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr1:85038200-85039600	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr1:85038200-85039800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr1:85038200-85040000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:85038200-85041000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:85038400-85039400	Enhancers	Placenta	Placenta
17	chr1:85038400-85039600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr1:85038400-85039600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr1:85038400-85039600	Flanking Active TSS	Dnd41	blood
20	chr1:85038400-85039800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:85038400-85039800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr1:85038400-85039800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr1:85038400-85039800	Flanking Active TSS	Osteobl	bone
24	chr1:85038400-85040000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr1:85038400-85040600	Active TSS	Colonic Mucosa	Colon
26	chr1:85038400-85040800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:85038600-85039400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr1:85038600-85039400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr1:85038600-85039400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:85038600-85039400	Flanking Active TSS	HMEC	breast
31	chr1:85038600-85039600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:85038600-85039600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr1:85038600-85039600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:85038600-85039600	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr1:85038600-85039800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:85038600-85039800	Flanking Active TSS	Hela-S3	cervix
37	chr1:85038600-85040000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:85038600-85040600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr1:85038600-85040600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:85038600-85040600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:85038600-85040600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:85038600-85040600	Flanking Active TSS	HUVEC	blood vessel
43	chr1:85038600-85040600	Active TSS	K562	blood
44	chr1:85038600-85040800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:85038600-85040800	Active TSS	Psoas Muscle	Psoas
46	chr1:85038600-85040800	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr1:85038600-85041000	Active TSS	Fetal Kidney	kidney
48	chr1:85038800-85039400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:85038800-85039400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr1:85038800-85039400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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