Variant report

Variant	rs9938552
Chromosome Location	chr16:69775364-69775365
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69765023..69767950-chr16:69774599..69776546,3	MCF-7	breast:
2	chr16:69775079..69777591-chr16:69795515..69797537,2	MCF-7	breast:
3	chr16:69768952..69770830-chr16:69774637..69776379,2	MCF-7	breast:
4	chr16:69760111..69762004-chr16:69774440..69775982,2	K562	blood:
5	chr16:69774416..69776982-chr8:145016470..145018843,2	MCF-7	breast:
6	chr16:69755773..69764501-chr16:69767489..69780977,30	MCF-7	breast:
7	chr16:69759462..69761611-chr16:69773945..69776080,3	K562	blood:

Variant related genes	Relation type
ENSG00000178209	Chromatin interaction
ENSG00000262136	Chromatin interaction
ENSG00000181019	Chromatin interaction
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs13329778	1.00[AMR][1000 genomes]
rs13329812	1.00[AMR][1000 genomes]
rs13330995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13332544	1.00[AMR][1000 genomes]
rs13332880	1.00[AMR][1000 genomes]
rs13336041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13336357	1.00[AMR][1000 genomes]
rs13338911	1.00[AMR][1000 genomes]
rs13339493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28402794	1.00[AMR][1000 genomes]
rs28429826	1.00[AMR][1000 genomes]
rs28502677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28514573	1.00[AMR][1000 genomes]
rs28523536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28535427	1.00[AMR][1000 genomes]
rs28576892	1.00[AMR][1000 genomes]
rs28583989	1.00[AMR][1000 genomes]
rs28607148	1.00[AMR][1000 genomes]
rs28610117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28628240	1.00[AMR][1000 genomes]
rs28651196	1.00[AMR][1000 genomes]
rs28673794	1.00[AMR][1000 genomes]
rs28756357	1.00[AMR][1000 genomes]
rs28803823	1.00[AMR][1000 genomes]
rs28867427	1.00[AMR][1000 genomes]
rs28882509	1.00[AMR][1000 genomes]
rs7196281	1.00[AMR][1000 genomes]
rs7196801	1.00[AMR][1000 genomes]
rs8049348	1.00[AMR][1000 genomes]
rs9674055	1.00[AMR][1000 genomes]
rs9921301	1.00[AMR][1000 genomes]
rs9923096	1.00[AMR][1000 genomes]
rs9923471	1.00[AMR][1000 genomes]
rs9924073	1.00[AMR][1000 genomes]
rs9924364	1.00[AMR][1000 genomes]
rs9924630	1.00[AMR][1000 genomes]
rs9925245	1.00[AMR][1000 genomes]
rs9926382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926822	1.00[AMR][1000 genomes]
rs9928560	1.00[AMR][1000 genomes]
rs9930692	1.00[AMR][1000 genomes]
rs9931479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932104	1.00[AMR][1000 genomes]
rs9933583	1.00[AMR][1000 genomes]
rs9933606	1.00[AMR][1000 genomes]
rs9933745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935973	1.00[AMR][1000 genomes]
rs9936451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9937762	1.00[AMR][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	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv524364	chr16:69745145-69803443	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69761200-69775400	Weak transcription	Fetal Brain Male	brain
2	chr16:69761200-69776200	Weak transcription	Ovary	ovary
3	chr16:69761800-69787400	Weak transcription	Right Atrium	heart
4	chr16:69762200-69776400	Weak transcription	Small Intestine	intestine
5	chr16:69766000-69776400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:69766600-69775400	Weak transcription	Stomach Mucosa	stomach
7	chr16:69770200-69778600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:69770400-69777400	Weak transcription	Right Ventricle	heart
9	chr16:69770400-69788000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr16:69770600-69775600	Weak transcription	Fetal Heart	heart
11	chr16:69771800-69777400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr16:69771800-69781400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr16:69771800-69786400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:69772600-69786400	Strong transcription	Fetal Stomach	stomach
15	chr16:69772800-69786400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:69773000-69775400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:69773000-69775400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr16:69773000-69775400	Strong transcription	HUVEC	blood vessel
19	chr16:69773000-69775600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:69773000-69775600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:69773000-69775800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:69773000-69776000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr16:69773000-69776200	Strong transcription	Left Ventricle	heart
24	chr16:69773000-69776800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:69773000-69781400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:69773000-69783000	Strong transcription	HepG2	liver
27	chr16:69773000-69783400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr16:69773000-69783400	Strong transcription	Primary T cells from cord blood	blood
29	chr16:69773000-69785600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr16:69773000-69786000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:69773000-69786000	Strong transcription	Thymus	Thymus
32	chr16:69773000-69786200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr16:69773000-69786200	Strong transcription	Fetal Brain Female	brain
34	chr16:69773000-69786200	Strong transcription	Dnd41	blood
35	chr16:69773000-69786400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:69773000-69786600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:69773000-69786600	Strong transcription	Fetal Thymus	thymus
38	chr16:69773000-69786800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr16:69773000-69787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:69773000-69787000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr16:69773000-69787000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr16:69773000-69787000	Strong transcription	Fetal Muscle Leg	muscle
43	chr16:69773000-69787200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr16:69773200-69775600	Strong transcription	Osteobl	bone
45	chr16:69773200-69776000	Strong transcription	Gastric	stomach
46	chr16:69773200-69777000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr16:69773200-69780400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:69773200-69780400	Strong transcription	HSMMtube	muscle
49	chr16:69773200-69780800	Strong transcription	Primary B cells from cord blood	blood
50	chr16:69773200-69785200	Strong transcription	Spleen	Spleen

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