Variant report

Variant	rs10746
Chromosome Location	chr5:80716163-80716164
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80715728..80718052-chr5:80720776..80722982,2	K562	blood:
2	chr5:80706922..80709797-chr5:80713834..80717319,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs13154229	0.80[EUR][1000 genomes]
rs13162911	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13185752	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13186206	0.81[AMR][1000 genomes]
rs13190050	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13190332	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17230425	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17230796	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17296290	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2042981	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2059892	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2059893	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2162974	0.85[EUR][1000 genomes]
rs33989062	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34094852	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34442739	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34513795	0.83[AMR][1000 genomes]
rs34588330	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34594743	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34955738	0.81[AMR][1000 genomes]
rs35003041	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35367896	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35399912	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35626276	0.81[AMR][1000 genomes]
rs35657180	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3764985	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4703521	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4703522	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4703524	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4703525	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4703837	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5005446	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71636272	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs723046	0.86[AMR][1000 genomes];0.84[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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80693400-80721600	Weak transcription	Fetal Brain Male	brain
2	chr5:80694800-80722400	Weak transcription	Aorta	Aorta
3	chr5:80697200-80739600	Weak transcription	Left Ventricle	heart
4	chr5:80701800-80722000	Weak transcription	Ovary	ovary
5	chr5:80702200-80733600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:80704000-80716800	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:80704400-80721600	Weak transcription	Fetal Stomach	stomach
9	chr5:80704400-80747600	Weak transcription	Placenta	Placenta
10	chr5:80704600-80721600	Weak transcription	Fetal Kidney	kidney
11	chr5:80705600-80722000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:80707400-80748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:80708000-80722400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:80708000-80729400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:80708200-80721600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:80709200-80755200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:80710400-80718400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:80710400-80721600	Strong transcription	Fetal Thymus	thymus
19	chr5:80710600-80721600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:80712200-80717000	Enhancers	NHEK	skin
21	chr5:80712200-80721600	Strong transcription	Dnd41	blood
22	chr5:80712600-80721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:80712600-80722200	Weak transcription	Psoas Muscle	Psoas
24	chr5:80713200-80716600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:80713600-80728200	Weak transcription	Lung	lung
26	chr5:80713600-80769200	Weak transcription	Esophagus	oesophagus
27	chr5:80713800-80717200	Weak transcription	GM12878-XiMat	blood
28	chr5:80713800-80719400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:80714000-80716400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr5:80714000-80717200	Enhancers	HMEC	breast
31	chr5:80714000-80717800	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:80714000-80718400	Strong transcription	Primary B cells from cord blood	blood
33	chr5:80714200-80716200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:80714200-80716600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:80714200-80717000	Strong transcription	Fetal Lung	lung
36	chr5:80714200-80721600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:80714400-80717800	Strong transcription	Adipose Nuclei	Adipose
38	chr5:80714400-80719400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:80714800-80716600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:80714800-80717000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:80714800-80718800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr5:80714800-80721200	Weak transcription	Fetal Heart	heart
43	chr5:80715000-80716400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr5:80715000-80716800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:80715000-80718000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr5:80715000-80718600	Strong transcription	Primary T cells from cord blood	blood
47	chr5:80715000-80718800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:80715200-80717400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr5:80715200-80717600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:80715400-80717000	Enhancers	NH-A	brain

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