Variant report

Variant	rs16867083
Chromosome Location	chr2:9767441-9767442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9694403..9696782-chr2:9766048..9768142,2	K562	blood:
2	chr2:9765530..9767539-chr2:9832292..9835222,2	K562	blood:
3	chr2:9694267..9698929-chr2:9766642..9773016,9	K562	blood:
4	chr2:9767218..9769003-chr2:9785866..9787851,2	K562	blood:

Variant related genes	Relation type
ENSG00000271855	Chromatin interaction
ENSG00000151694	Chromatin interaction

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

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

rs_ID	r²[population]
rs10495571	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495573	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676903	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692112	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694314	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362734	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362839	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17362902	0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17453675	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17453724	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453752	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55883249	0.85[EUR][1000 genomes]
rs56372340	0.85[EUR][1000 genomes]
rs57234614	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57407838	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60319753	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60726087	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119391	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119392	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119393	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119422	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119423	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119428	0.90[EUR][1000 genomes]
rs62119429	0.90[EUR][1000 genomes]
rs62119431	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62119432	0.84[AMR][1000 genomes];0.90[EUR][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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9748600-9767600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:9749000-9769200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:9749200-9768000	Weak transcription	Stomach Mucosa	stomach
5	chr2:9749600-9768200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:9752200-9768200	Weak transcription	Colonic Mucosa	Colon
7	chr2:9754200-9767600	Weak transcription	Esophagus	oesophagus
8	chr2:9754200-9768800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:9756200-9767800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:9758000-9769400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:9760400-9768000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:9760800-9767600	Strong transcription	Fetal Thymus	thymus
13	chr2:9761000-9767600	Weak transcription	HSMMtube	muscle
14	chr2:9761600-9768800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:9761800-9769400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:9763000-9768600	Genic enhancers	HepG2	liver
17	chr2:9764200-9767600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:9764200-9768800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:9764200-9768800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr2:9764600-9768400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:9764800-9767600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:9764800-9767600	Weak transcription	Lung	lung
23	chr2:9764800-9767600	Weak transcription	Right Atrium	heart
24	chr2:9764800-9767600	Weak transcription	Thymus	Thymus
25	chr2:9764800-9767800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:9764800-9768400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr2:9764800-9769800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:9765400-9767800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:9765400-9768000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:9765400-9769000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:9765400-9769200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:9765600-9767600	Enhancers	Brain Anterior Caudate	brain
33	chr2:9765600-9767600	Genic enhancers	Brain Substantia Nigra	brain
34	chr2:9765600-9768000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:9765600-9768000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr2:9765600-9768200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
37	chr2:9765600-9768800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:9765600-9769400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr2:9765800-9767600	Genic enhancers	Fetal Lung	lung
40	chr2:9765800-9768800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr2:9765800-9769200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:9765800-9769600	Genic enhancers	Primary B cells from peripheral blood	blood
43	chr2:9765800-9769600	Enhancers	Small Intestine	intestine
44	chr2:9765800-9770400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:9766000-9767800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:9766200-9769000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:9766400-9767600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:9766400-9767600	Enhancers	Psoas Muscle	Psoas
49	chr2:9766400-9767600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:9766400-9767800	Enhancers	Fetal Brain Male	brain

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