Variant report

Variant	rs4286709
Chromosome Location	chr5:118463679-118463680
allele	A/C
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	NFYB	chr5:118463532-118463715	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118463365..118465744-chr5:118468945..118471414,3	K562	blood:
2	chr5:118463365..118465367-chr5:118467203..118470688,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-7	chr5:118463435-118464139	NONHSAT103421

Variant related genes	Relation type
DMXL1	TF binding region
ENSG00000248979	Chromatin interaction
ENSG00000172869	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10052879	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10064311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10071407	1.00[JPT][hapmap]
rs10071890	0.84[ASN][1000 genomes]
rs10900727	1.00[JPT][hapmap]
rs10900728	0.85[EUR][1000 genomes]
rs11241489	0.95[ASN][1000 genomes]
rs11241492	0.93[YRI][hapmap];0.82[ASN][1000 genomes]
rs12518168	0.85[EUR][1000 genomes]
rs12653870	0.82[ASN][1000 genomes]
rs1394629	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2036565	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs299192	1.00[JPT][hapmap]
rs3822516	0.88[CEU][hapmap]
rs3992621	0.90[EUR][1000 genomes]
rs4380699	1.00[JPT][hapmap]
rs4512152	0.81[ASN][1000 genomes]
rs4533918	0.82[ASN][1000 genomes]
rs4583917	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4639262	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs4895185	1.00[JPT][hapmap]
rs57278208	0.82[ASN][1000 genomes]
rs61279074	0.89[ASN][1000 genomes]
rs6595174	1.00[JPT][hapmap]
rs6595178	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6595179	0.89[ASN][1000 genomes]
rs6863826	0.93[YRI][hapmap];0.82[ASN][1000 genomes]
rs6880622	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6889308	1.00[JPT][hapmap]
rs6893733	1.00[JPT][hapmap]
rs6894997	1.00[JPT][hapmap]
rs7702867	1.00[JPT][hapmap]
rs7706218	0.83[CEU][hapmap]
rs7713483	0.82[ASN][1000 genomes]
rs7720231	1.00[JPT][hapmap]
rs7727906	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs7734532	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7736400	1.00[JPT][hapmap]
rs9327087	1.00[JPT][hapmap]
rs9327093	1.00[JPT][hapmap]
rs9790885	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118409000-118471200	Weak transcription	Gastric	stomach
2	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:118414400-118472200	Weak transcription	Pancreas	Pancrea
4	chr5:118415400-118471600	Weak transcription	Right Ventricle	heart
5	chr5:118430200-118471400	Weak transcription	Colonic Mucosa	Colon
6	chr5:118430800-118472200	Weak transcription	Esophagus	oesophagus
7	chr5:118431000-118472200	Weak transcription	Small Intestine	intestine
8	chr5:118433000-118466800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:118433000-118468600	Weak transcription	Fetal Heart	heart
10	chr5:118434200-118471000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:118438600-118484400	Weak transcription	NHLF	lung
12	chr5:118442000-118465200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:118442200-118472200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:118442400-118465200	Weak transcription	Brain Angular Gyrus	brain
15	chr5:118443200-118472200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:118444000-118472000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:118444800-118471200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:118445600-118467200	Weak transcription	A549	lung
19	chr5:118447400-118485400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:118448800-118471600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:118450400-118496800	Weak transcription	Stomach Mucosa	stomach
22	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:118452400-118465000	Weak transcription	Fetal Brain Male	brain
24	chr5:118452600-118465000	Weak transcription	HSMM	muscle
25	chr5:118452600-118468800	Weak transcription	NHDF-Ad	bronchial
26	chr5:118452800-118472400	Weak transcription	Hela-S3	cervix
27	chr5:118453000-118472400	Weak transcription	Psoas Muscle	Psoas
28	chr5:118453400-118464000	Weak transcription	Brain Anterior Caudate	brain
29	chr5:118453400-118465000	Weak transcription	HUVEC	blood vessel
30	chr5:118453600-118465200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:118453600-118471200	Weak transcription	Aorta	Aorta
32	chr5:118453800-118465200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:118453800-118522800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr5:118454000-118465000	Weak transcription	Fetal Kidney	kidney
35	chr5:118454000-118465000	Weak transcription	HSMMtube	muscle
36	chr5:118454000-118465200	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:118454200-118464000	Weak transcription	Brain Substantia Nigra	brain
38	chr5:118454200-118465000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:118454200-118468800	Weak transcription	Osteobl	bone
40	chr5:118454600-118465200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:118454800-118465000	Weak transcription	NH-A	brain
42	chr5:118455000-118465000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:118455000-118465400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr5:118456000-118465200	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:118456200-118468600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr5:118456800-118465000	Weak transcription	K562	blood
47	chr5:118456800-118465200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:118456800-118469200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr5:118456800-118483200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:118456800-118484600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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