Variant report

Variant	rs16856039
Chromosome Location	chr2:169712586-169712587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:169710740-169716910	K562	blood:	n/a	n/a

Variant related genes	Relation type
NOSTRIN	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10084216	0.85[AMR][1000 genomes]
rs10182530	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11898734	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11900587	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13384539	0.85[AMR][1000 genomes]
rs13402190	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13402324	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16856043	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16856052	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58146586	0.85[AMR][1000 genomes]
rs59115206	0.83[AFR][1000 genomes];0.85[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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv875381	chr2:169686559-169749841	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169683400-169717600	Weak transcription	Ovary	ovary
2	chr2:169689000-169721800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:169693400-169721400	Weak transcription	Spleen	Spleen
4	chr2:169693600-169721400	Weak transcription	Right Ventricle	heart
5	chr2:169698400-169713000	Weak transcription	Fetal Heart	heart
6	chr2:169698400-169721200	Weak transcription	Stomach Mucosa	stomach
7	chr2:169698600-169744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:169702200-169721200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:169702200-169733000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:169702600-169721400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:169703200-169713600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:169703600-169714600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:169703600-169721200	Weak transcription	GM12878-XiMat	blood
14	chr2:169704200-169723400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:169704600-169721400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:169705000-169721000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:169705000-169723600	Weak transcription	Fetal Brain Female	brain
18	chr2:169705200-169721400	Weak transcription	Fetal Kidney	kidney
19	chr2:169706000-169719000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:169706200-169717600	Weak transcription	Pancreas	Pancrea
21	chr2:169706400-169713000	Weak transcription	Psoas Muscle	Psoas
22	chr2:169706600-169713200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:169706600-169721600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:169706600-169727800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:169706800-169713400	Strong transcription	Fetal Intestine Large	intestine
26	chr2:169706800-169718400	Weak transcription	Liver	Liver
27	chr2:169707000-169721000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:169707200-169714800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:169707400-169713400	Strong transcription	Dnd41	blood
30	chr2:169707400-169722000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:169708600-169712800	Weak transcription	Fetal Stomach	stomach
32	chr2:169708600-169712800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:169708600-169723200	Weak transcription	NHLF	lung
34	chr2:169708800-169717600	Weak transcription	Gastric	stomach
35	chr2:169708800-169718400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:169708800-169721000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:169708800-169721200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:169708800-169721200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:169708800-169721200	Weak transcription	A549	lung
40	chr2:169708800-169721200	Weak transcription	HMEC	breast
41	chr2:169709200-169713400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr2:169709200-169721400	Weak transcription	HUVEC	blood vessel
43	chr2:169709400-169713800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:169709400-169715200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:169709400-169721000	Weak transcription	Colonic Mucosa	Colon
46	chr2:169709400-169721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:169709800-169721000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:169709800-169733400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:169710000-169719000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:169710200-169721200	Weak transcription	Fetal Lung	lung

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