Variant report

Variant	rs11927998
Chromosome Location	chr3:150319582-150319583
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150260773..150268334-chr3:150317152..150324883,17	K562	blood:
2	chr3:150262222..150264859-chr3:150319269..150321349,2	K562	blood:
3	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
4	chr3:150319300..150322608-chr3:150420316..150423261,6	MCF-7	breast:
5	chr3:150319130..150324790-chr3:150327939..150333389,12	K562	blood:
6	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
7	chr3:150259884..150269236-chr3:150319275..150325391,10	MCF-7	breast:
8	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
9	chr3:150319550..150322084-chr3:150479715..150481431,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181788	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000240137	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000271711	Chromatin interaction
ENSG00000244265	Chromatin interaction
ENSG00000163645	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11548666	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11921309	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11922033	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11924919	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11927175	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11929205	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12107730	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17214539	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17214746	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17440940	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915945	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1965473	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2030530	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2293150	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2293151	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55707430	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55723846	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56208302	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56217437	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59885545	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60142519	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61019785	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61667461	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001317	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001332	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001341	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001347	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001362	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001363	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001365	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73003042	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7430992	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7650013	0.88[EUR][1000 genomes];0.90[ASN][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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:150301600-150320200	Weak transcription	Small Intestine	intestine
4	chr3:150302400-150320000	Weak transcription	Brain Germinal Matrix	brain
5	chr3:150303800-150320000	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:150303800-150320000	Weak transcription	Fetal Brain Female	brain
7	chr3:150303800-150320000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:150303800-150320800	Weak transcription	Lung	lung
9	chr3:150303800-150320800	Weak transcription	Spleen	Spleen
10	chr3:150304000-150320000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:150304000-150320000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr3:150304000-150320000	Weak transcription	Fetal Stomach	stomach
13	chr3:150304000-150320600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:150304400-150320000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr3:150304400-150320200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:150304400-150320600	Weak transcription	Ovary	ovary
17	chr3:150304800-150320400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:150306200-150320000	Weak transcription	Left Ventricle	heart
19	chr3:150312800-150320000	Weak transcription	Fetal Intestine Small	intestine
20	chr3:150315600-150320000	Enhancers	HMEC	breast
21	chr3:150316400-150319800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:150317200-150320000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:150317200-150320200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:150317200-150320200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:150317200-150320200	Weak transcription	Right Atrium	heart
26	chr3:150317400-150320200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr3:150317600-150319600	Enhancers	HepG2	liver
28	chr3:150317600-150320200	Weak transcription	HSMMtube	muscle
29	chr3:150317800-150320000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:150317800-150320000	Weak transcription	Primary B cells from cord blood	blood
31	chr3:150317800-150320000	Enhancers	Dnd41	blood
32	chr3:150318000-150320000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:150318000-150320000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:150318000-150320000	Weak transcription	Fetal Thymus	thymus
35	chr3:150318200-150320000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:150318200-150320000	Weak transcription	Psoas Muscle	Psoas
37	chr3:150318200-150320200	Enhancers	Primary T cells from cord blood	blood
38	chr3:150318200-150320200	Weak transcription	Right Ventricle	heart
39	chr3:150318400-150320000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:150318400-150320000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:150318400-150320000	Weak transcription	Brain Angular Gyrus	brain
42	chr3:150318400-150320200	Weak transcription	HSMM	muscle
43	chr3:150318600-150320000	Weak transcription	A549	lung
44	chr3:150318600-150320000	Weak transcription	NHLF	lung
45	chr3:150318600-150320200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:150318600-150320200	Weak transcription	NH-A	brain
47	chr3:150318600-150320400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:150318600-150320400	Weak transcription	NHDF-Ad	bronchial
49	chr3:150318600-150323600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr3:150318600-150323600	Active TSS	K562	blood

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