Variant report

Variant	rs295431
Chromosome Location	chr3:47361768-47361769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47357694..47362464-chr3:47362974..47365576,6	K562	blood:
2	chr3:47356963..47358845-chr3:47360434..47362200,2	K562	blood:
3	chr3:47205889..47207701-chr3:47360289..47361943,2	K562	blood:

Variant related genes	Relation type
ENSG00000227398	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1024036	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1038393	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865945	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10865947	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1091068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11130122	0.81[AFR][1000 genomes]
rs11707272	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709693	1.00[EUR][1000 genomes]
rs11922925	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12330516	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12631697	1.00[EUR][1000 genomes]
rs13077134	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs13323092	1.00[EUR][1000 genomes]
rs1531874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1872165	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874264	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1979736	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2170814	1.00[AMR][1000 genomes]
rs2350642	1.00[EUR][1000 genomes]
rs28735306	1.00[EUR][1000 genomes]
rs295432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295434	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295443	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295444	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295445	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295448	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295450	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295451	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295457	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4018904	1.00[EUR][1000 genomes]
rs448018	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858812	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858855	1.00[AMR][1000 genomes]
rs4858896	1.00[EUR][1000 genomes]
rs6442062	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6442063	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6442066	1.00[EUR][1000 genomes]
rs6442068	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442069	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs648226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6772449	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6775797	1.00[EUR][1000 genomes]
rs6778673	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6778687	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6783591	1.00[EUR][1000 genomes]
rs6785538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6787210	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6788978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6789730	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808117	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6808629	1.00[EUR][1000 genomes]
rs7372780	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831482	1.00[EUR][1000 genomes]
rs7612191	0.87[AMR][1000 genomes]
rs7615774	1.00[EUR][1000 genomes]
rs7621853	0.87[AMR][1000 genomes]
rs7630154	1.00[EUR][1000 genomes]
rs7639121	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7643150	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7643181	0.81[AFR][1000 genomes]
rs7644043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7644382	1.00[EUR][1000 genomes]
rs7649413	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7652492	1.00[EUR][1000 genomes]
rs807930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs807933	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs900688	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900689	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900690	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900691	1.00[EUR][1000 genomes]
rs900692	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900694	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs903538	0.87[AFR][1000 genomes]
rs924009	1.00[EUR][1000 genomes]
rs9812407	1.00[EUR][1000 genomes]
rs9819475	1.00[EUR][1000 genomes]
rs9823480	1.00[EUR][1000 genomes]
rs9823599	0.85[AMR][1000 genomes]
rs9826488	1.00[EUR][1000 genomes]
rs9827293	1.00[EUR][1000 genomes]
rs9828124	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828289	0.87[AFR][1000 genomes]
rs9828473	1.00[EUR][1000 genomes]
rs9852167	1.00[EUR][1000 genomes]
rs9861247	1.00[EUR][1000 genomes]
rs9861265	1.00[EUR][1000 genomes]
rs9862711	1.00[EUR][1000 genomes]
rs9869489	1.00[EUR][1000 genomes]
rs9878813	1.00[EUR][1000 genomes]
rs9883152	1.00[EUR][1000 genomes]
rs9990284	1.00[EUR][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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 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	chr3:47325600-47367600	Weak transcription	A549	lung
2	chr3:47326200-47362200	Weak transcription	Gastric	stomach
3	chr3:47326200-47363200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:47326400-47364400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:47328400-47364400	Weak transcription	Pancreas	Pancrea
6	chr3:47330800-47361800	Weak transcription	HMEC	breast
7	chr3:47332200-47361800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:47333200-47364800	Weak transcription	NH-A	brain
9	chr3:47333800-47371400	Weak transcription	Psoas Muscle	Psoas
10	chr3:47338600-47369800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:47338600-47371200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:47339000-47361800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr3:47343200-47362000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:47344400-47362200	Weak transcription	Brain Germinal Matrix	brain
15	chr3:47345000-47370000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:47345200-47361800	Weak transcription	Fetal Brain Female	brain
17	chr3:47345200-47363200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:47345200-47365200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr3:47346400-47361800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:47350400-47362000	Weak transcription	Right Ventricle	heart
21	chr3:47356400-47371200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:47356800-47382600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr3:47357000-47362000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:47357000-47362400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:47357000-47363200	Weak transcription	Brain Substantia Nigra	brain
26	chr3:47357000-47364800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:47357000-47365000	Weak transcription	NHDF-Ad	bronchial
28	chr3:47357200-47361800	Weak transcription	Brain Anterior Caudate	brain
29	chr3:47357200-47364000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:47357200-47365200	Weak transcription	Small Intestine	intestine
31	chr3:47357200-47368800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr3:47357200-47374800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:47358800-47387000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr3:47359400-47365800	Strong transcription	Primary B cells from cord blood	blood
35	chr3:47359400-47385000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:47359400-47387200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr3:47359400-47387800	Strong transcription	Spleen	Spleen
38	chr3:47359600-47364000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:47359600-47365000	Weak transcription	Colonic Mucosa	Colon
40	chr3:47359600-47386800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr3:47359800-47362000	Genic enhancers	K562	blood
42	chr3:47359800-47364400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr3:47360000-47382600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr3:47360000-47388200	Strong transcription	Fetal Intestine Large	intestine
45	chr3:47360200-47365800	Strong transcription	Thymus	Thymus
46	chr3:47360400-47365000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:47360400-47365800	Strong transcription	GM12878-XiMat	blood
48	chr3:47360400-47387000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:47360400-47388000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:47360600-47362800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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