Variant report

Variant	rs9936965
Chromosome Location	chr16:71900064-71900065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71898928..71901891-chr16:71916242..71919220,3	MCF-7	breast:
2	chr16:71890168..71892729-chr16:71898012..71900184,2	K562	blood:
3	chr16:71894255..71897877-chr16:71898217..71900097,3	K562	blood:
4	chr16:71884375..71886145-chr16:71899843..71902432,2	K562	blood:

Variant related genes	Relation type
ENSG00000182149	Chromatin interaction
ENSG00000102984	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1035543	0.85[EUR][1000 genomes]
rs12597418	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12600153	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12600163	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13332113	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13332180	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13337118	0.89[EUR][1000 genomes]
rs1834033	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2291947	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34111614	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4538017	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4788448	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4788567	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788572	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4788574	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4788578	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55702379	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56309616	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60075093	0.88[EUR][1000 genomes]
rs60740701	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7350856	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs952159	0.90[EUR][1000 genomes]
rs952160	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9889100	0.83[EUR][1000 genomes]
rs9925441	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9925684	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9937626	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS 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	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881000-71902200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
3	chr16:71881800-71902000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:71881800-71904600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:71881800-71914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:71881800-71914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:71882000-71903800	Strong transcription	Brain Germinal Matrix	brain
8	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:71882400-71902400	Strong transcription	Fetal Stomach	stomach
10	chr16:71882400-71914600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:71884600-71902000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:71885200-71912800	Weak transcription	NHDF-Ad	bronchial
13	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
14	chr16:71886400-71904200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr16:71886400-71904600	Strong transcription	Fetal Brain Female	brain
16	chr16:71888000-71914800	Weak transcription	HUVEC	blood vessel
17	chr16:71888000-71916400	Weak transcription	NHEK	skin
18	chr16:71888200-71910600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:71888400-71903000	Weak transcription	K562	blood
20	chr16:71888600-71903800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr16:71889200-71904000	Strong transcription	Primary T cells from cord blood	blood
22	chr16:71889600-71900200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:71890200-71913000	Weak transcription	Osteobl	bone
24	chr16:71891000-71914000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr16:71891400-71905400	Strong transcription	Fetal Lung	lung
26	chr16:71891400-71906600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr16:71892000-71902000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr16:71892000-71903400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr16:71892200-71900400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:71892200-71901000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr16:71892400-71901800	Strong transcription	Fetal Muscle Leg	muscle
32	chr16:71892600-71901800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr16:71892600-71904400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr16:71892800-71901000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr16:71892800-71901200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr16:71892800-71902200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr16:71892800-71902600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr16:71893000-71900400	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr16:71893000-71901000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:71893000-71901000	Strong transcription	Brain Cingulate Gyrus	brain
41	chr16:71893000-71905200	Strong transcription	Brain Anterior Caudate	brain
42	chr16:71893200-71901200	Strong transcription	HSMMtube	muscle
43	chr16:71893200-71902000	Strong transcription	Brain Angular Gyrus	brain
44	chr16:71893200-71902000	Weak transcription	Fetal Heart	heart
45	chr16:71893200-71904200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr16:71893200-71911000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr16:71893400-71901200	Strong transcription	HepG2	liver
48	chr16:71893400-71902400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr16:71893400-71904800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:71893600-71901400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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