Variant report

Variant	rs9940720
Chromosome Location	chr16:47735363-47735364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11859041	1.00[AMR][1000 genomes]
rs11859829	1.00[AMR][1000 genomes]
rs11859924	1.00[AMR][1000 genomes]
rs11860314	1.00[AMR][1000 genomes]
rs11863564	1.00[AMR][1000 genomes]
rs11863785	1.00[AMR][1000 genomes]
rs11864218	1.00[AMR][1000 genomes]
rs11864400	1.00[AMR][1000 genomes]
rs11865330	1.00[AMR][1000 genomes]
rs11866253	1.00[AMR][1000 genomes]
rs11866307	1.00[AMR][1000 genomes]
rs12103147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13332639	0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13336222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337120	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35691326	1.00[AMR][1000 genomes]
rs9930900	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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	27 gene(s)	inside rSNPs	diseases
2	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1056126	chr16:47658705-47738655	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47696000-47737800	Weak transcription	HMEC	breast
2	chr16:47711600-47736600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:47717800-47746600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:47721200-47736000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr16:47723400-47735600	Strong transcription	Primary hematopoietic stem cells	blood
6	chr16:47724800-47739200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:47727400-47736600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:47727600-47738600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:47727600-47746800	Weak transcription	HSMM	muscle
10	chr16:47729000-47737200	Weak transcription	NHDF-Ad	bronchial
11	chr16:47729600-47744200	Weak transcription	Gastric	stomach
12	chr16:47730800-47746200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:47731200-47738200	Weak transcription	NH-A	brain
14	chr16:47731400-47735600	Weak transcription	Thymus	Thymus
15	chr16:47731400-47735800	Weak transcription	Brain Angular Gyrus	brain
16	chr16:47731800-47739800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr16:47731800-47746200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:47732000-47735400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:47732000-47736800	Weak transcription	Colon Smooth Muscle	Colon
20	chr16:47732000-47738000	Weak transcription	Psoas Muscle	Psoas
21	chr16:47732000-47740400	Weak transcription	Pancreas	Pancrea
22	chr16:47732000-47746200	Weak transcription	Lung	lung
23	chr16:47732000-47746400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:47732000-47746400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:47732400-47736200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr16:47733000-47735600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr16:47733200-47735800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr16:47733400-47735400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:47733400-47735800	Weak transcription	Aorta	Aorta
30	chr16:47733400-47737600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr16:47733400-47739200	Weak transcription	Spleen	Spleen
32	chr16:47733400-47743200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr16:47733400-47745600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr16:47733400-47745600	Weak transcription	Placenta	Placenta
35	chr16:47733400-47747200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr16:47733600-47735400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr16:47733600-47735400	Weak transcription	Fetal Intestine Large	intestine
38	chr16:47733600-47735400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr16:47733600-47735600	Weak transcription	Fetal Intestine Small	intestine
40	chr16:47733600-47735800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr16:47733600-47736200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr16:47733600-47736200	Weak transcription	Primary T cells from cord blood	blood
43	chr16:47733600-47736200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr16:47733600-47736400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr16:47733600-47736400	Weak transcription	K562	blood
46	chr16:47733600-47736600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr16:47733600-47736600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr16:47733600-47737000	Weak transcription	Liver	Liver
49	chr16:47733600-47737000	Weak transcription	Fetal Stomach	stomach
50	chr16:47733600-47737200	Weak transcription	Muscle Satellite Cultured Cells	--

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