Variant report

Variant	rs4380699
Chromosome Location	chr5:118480830-118480831
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118479883..118482133-chr5:118688708..118691620,2	K562	blood:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10052879	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10064311	1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10065628	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10071407	1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs10071890	0.94[ASN][1000 genomes]
rs10477584	0.87[CEU][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10900727	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11241489	0.83[ASN][1000 genomes]
rs1394629	1.00[JPT][hapmap]
rs299192	1.00[JPT][hapmap]
rs4286709	1.00[JPT][hapmap]
rs4565243	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs4583917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4895185	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61279074	0.89[ASN][1000 genomes]
rs6595174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6595178	1.00[JPT][hapmap]
rs6880622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6889308	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893733	1.00[JPT][hapmap]
rs6894997	1.00[JPT][hapmap]
rs7702867	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7720231	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7734532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7736400	1.00[JPT][hapmap]
rs9327087	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9327093	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118438600-118484400	Weak transcription	NHLF	lung
3	chr5:118447400-118485400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:118450400-118496800	Weak transcription	Stomach Mucosa	stomach
5	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:118453800-118522800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr5:118456800-118483200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:118456800-118484600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:118465600-118483000	Weak transcription	HUVEC	blood vessel
10	chr5:118469200-118483600	Weak transcription	Fetal Heart	heart
11	chr5:118469400-118482200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:118469800-118482200	Weak transcription	HSMM	muscle
13	chr5:118469800-118484400	Weak transcription	NHDF-Ad	bronchial
14	chr5:118470000-118503200	Weak transcription	NH-A	brain
15	chr5:118470800-118482600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:118471400-118482400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:118472600-118483000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr5:118472600-118483400	Weak transcription	Small Intestine	intestine
19	chr5:118472600-118487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:118472800-118482800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:118472800-118483400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:118472800-118484400	Weak transcription	Psoas Muscle	Psoas
23	chr5:118472800-118484600	Weak transcription	Spleen	Spleen
24	chr5:118472800-118504000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:118472800-118505000	Weak transcription	HepG2	liver
26	chr5:118473000-118481400	Weak transcription	Liver	Liver
27	chr5:118473000-118481800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:118473000-118482400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:118473000-118482800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:118473000-118483000	Weak transcription	Left Ventricle	heart
31	chr5:118473000-118483400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:118473000-118483400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:118473000-118483400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:118473000-118483400	Weak transcription	Brain Substantia Nigra	brain
35	chr5:118473000-118483400	Weak transcription	Right Ventricle	heart
36	chr5:118473000-118484400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:118473000-118484400	Weak transcription	HSMMtube	muscle
38	chr5:118473000-118484600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:118473000-118484600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:118473000-118484600	Weak transcription	Aorta	Aorta
41	chr5:118473000-118484600	Weak transcription	Esophagus	oesophagus
42	chr5:118473000-118484600	Weak transcription	Gastric	stomach
43	chr5:118473000-118484600	Weak transcription	Hela-S3	cervix
44	chr5:118473000-118484800	Weak transcription	Lung	lung
45	chr5:118473000-118485400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:118473000-118497000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:118473200-118482600	Weak transcription	Brain Hippocampus Middle	brain
48	chr5:118473200-118483000	Weak transcription	Osteobl	bone
49	chr5:118473200-118483600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:118473200-118484400	Weak transcription	Muscle Satellite Cultured Cells	--

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