Variant report

Variant	rs7205551
Chromosome Location	chr16:69605968-69605969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69598845..69601528-chr16:69603220..69607437,4	MCF-7	breast:
2	chr16:69605630..69607155-chr16:69610468..69613259,2	MCF-7	breast:
3	chr16:69604663..69607027-chr16:69622844..69624484,2	K562	blood:
4	chr16:69603757..69608003-chr16:69608189..69613154,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102908	Chromatin interaction
ENSG00000223109	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11075726	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11075729	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11640319	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11641686	0.94[ASN][1000 genomes]
rs11641722	0.94[ASN][1000 genomes]
rs11646575	0.84[EUR][1000 genomes]
rs11648335	0.92[ASN][1000 genomes]
rs12599391	0.84[AFR][1000 genomes]
rs12918548	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1972659	0.83[EUR][1000 genomes]
rs2017448	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2161630	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs244418	0.87[AFR][1000 genomes]
rs244420	0.84[AFR][1000 genomes]
rs3848278	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4633710	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57497992	0.93[ASN][1000 genomes]
rs6499231	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6499241	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs669696	0.86[AFR][1000 genomes]
rs7187634	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7189878	0.84[EUR][1000 genomes]
rs7191292	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7192380	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7192543	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7204433	0.94[ASN][1000 genomes]
rs8045432	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8049728	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8055756	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8061052	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8061725	0.94[ASN][1000 genomes]
rs862320	0.85[AFR][1000 genomes]
rs9302604	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9783756	0.94[ASN][1000 genomes]
rs9938213	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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	nsv1852	chr16:69566121-69610962	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7205551	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69601400-69613000	Weak transcription	Small Intestine	intestine
2	chr16:69601600-69610600	Weak transcription	Ovary	ovary
3	chr16:69601800-69610600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:69602000-69606000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:69602000-69610600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:69602000-69633000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr16:69602200-69609200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:69602200-69610400	Weak transcription	Placenta	Placenta
9	chr16:69602200-69610400	Weak transcription	Lung	lung
10	chr16:69602200-69619400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr16:69602200-69622000	Weak transcription	Gastric	stomach
12	chr16:69602200-69627000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:69602200-69628600	Weak transcription	Right Atrium	heart
14	chr16:69602200-69631600	Weak transcription	Pancreas	Pancrea
15	chr16:69602200-69643200	Weak transcription	Fetal Muscle Leg	muscle
16	chr16:69602200-69646600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr16:69602200-69653600	Weak transcription	Fetal Thymus	thymus
18	chr16:69602400-69610400	Weak transcription	Psoas Muscle	Psoas
19	chr16:69602600-69607600	Weak transcription	Fetal Intestine Small	intestine
20	chr16:69602600-69609000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:69602600-69610600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr16:69602600-69614200	Weak transcription	Fetal Stomach	stomach
23	chr16:69602600-69628600	Weak transcription	Thymus	Thymus
24	chr16:69602600-69628800	Weak transcription	Right Ventricle	heart
25	chr16:69602600-69629600	Weak transcription	HSMMtube	muscle
26	chr16:69602600-69630200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:69602600-69630800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr16:69602800-69608800	Weak transcription	Fetal Intestine Large	intestine
29	chr16:69602800-69610200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:69602800-69611400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr16:69602800-69627800	Weak transcription	Fetal Kidney	kidney
32	chr16:69602800-69629200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr16:69603000-69610600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:69603000-69613400	Weak transcription	Fetal Heart	heart
35	chr16:69603000-69617400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr16:69603000-69627800	Weak transcription	Brain Substantia Nigra	brain
37	chr16:69603000-69647400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr16:69603200-69606200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr16:69603200-69606800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:69603200-69610600	Weak transcription	Brain Angular Gyrus	brain
41	chr16:69603200-69612000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:69603200-69627800	Weak transcription	Primary B cells from cord blood	blood
43	chr16:69603200-69629600	Weak transcription	NH-A	brain
44	chr16:69603400-69614600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr16:69603400-69617200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr16:69603400-69623600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:69603600-69606000	Enhancers	HepG2	liver
48	chr16:69603600-69607200	Weak transcription	Dnd41	blood
49	chr16:69603600-69608000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:69603600-69610400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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