Variant report

Variant	rs2245180
Chromosome Location	chr15:76510582-76510583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:76510425..76512602-chr15:76513810..76515951,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10220790	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs12708522	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1533600	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs166932	1.00[AMR][1000 genomes]
rs1810347	1.00[AMR][1000 genomes]
rs1814764	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1875886	0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1878877	1.00[ASW][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs190782	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2037306	1.00[AMR][1000 genomes]
rs2176622	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244050	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2247488	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2250805	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2405329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2405330	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2405332	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456030	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456032	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456034	1.00[AMR][1000 genomes]
rs2456035	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2456036	1.00[AMR][1000 genomes]
rs2456037	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456038	1.00[AMR][1000 genomes]
rs2456039	1.00[AMR][1000 genomes]
rs2456043	0.83[AMR][1000 genomes]
rs2456044	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456056	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456059	0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456062	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456064	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456068	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456069	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460141	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2460143	1.00[ASW][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2460145	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460149	1.00[AMR][1000 genomes]
rs2460157	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460159	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469209	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469217	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469218	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2469219	1.00[AMR][1000 genomes]
rs2469220	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469221	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469223	1.00[AMR][1000 genomes]
rs2469536	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469537	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469540	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469545	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469546	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469549	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469550	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469551	1.00[AMR][1000 genomes]
rs2469553	1.00[AMR][1000 genomes]
rs2469561	0.89[AFR][1000 genomes]
rs2469571	1.00[AMR][1000 genomes]
rs2469572	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469574	1.00[ASW][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs284887	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs284888	1.00[AMR][1000 genomes]
rs284889	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs284890	1.00[AMR][1000 genomes]
rs284894	0.83[AMR][1000 genomes]
rs2938692	1.00[AMR][1000 genomes]
rs2938693	1.00[AMR][1000 genomes]
rs2938694	0.83[AMR][1000 genomes]
rs2938696	1.00[AMR][1000 genomes]
rs2938698	1.00[AMR][1000 genomes]
rs2944379	1.00[AMR][1000 genomes]
rs2944380	1.00[AMR][1000 genomes]
rs2948702	1.00[AMR][1000 genomes]
rs2956872	1.00[AMR][1000 genomes]
rs2957558	1.00[AMR][1000 genomes]
rs2957608	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs4886797	1.00[AMR][1000 genomes]
rs6495202	1.00[AMR][1000 genomes]
rs7164815	1.00[AMR][1000 genomes]
rs8040818	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs937731	1.00[AMR][1000 genomes]
rs937734	1.00[MEX][hapmap];1.00[AMR][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	nsv569998	chr15:76232605-76550938	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv833057	chr15:76367848-76585868	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76486800-76516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr15:76489400-76519800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:76492800-76517600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:76492800-76526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr15:76493600-76526400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr15:76497000-76518200	Strong transcription	Duodenum Mucosa	Duodenum
7	chr15:76498200-76511000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr15:76498200-76511600	Strong transcription	Primary T cells from cord blood	blood
9	chr15:76498400-76510600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr15:76499200-76516800	Weak transcription	Brain Angular Gyrus	brain
11	chr15:76499200-76527400	Weak transcription	Fetal Brain Male	brain
12	chr15:76500200-76510800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:76500600-76534800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr15:76501200-76524200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:76501600-76512400	Strong transcription	HepG2	liver
16	chr15:76501600-76515600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:76501800-76517200	Weak transcription	Fetal Kidney	kidney
18	chr15:76502400-76516200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:76503600-76551400	Weak transcription	Small Intestine	intestine
20	chr15:76504200-76517000	Weak transcription	Fetal Heart	heart
21	chr15:76505800-76518000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:76506000-76526800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:76506200-76526800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr15:76506400-76525600	Weak transcription	Fetal Brain Female	brain
25	chr15:76506800-76516800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr15:76507200-76511200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:76507200-76516600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:76507200-76551400	Weak transcription	Brain Hippocampus Middle	brain
29	chr15:76507400-76516800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr15:76507600-76516600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:76507600-76516600	Weak transcription	Colon Smooth Muscle	Colon
32	chr15:76507800-76515600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:76508000-76515200	Weak transcription	Ovary	ovary
34	chr15:76508000-76525000	Weak transcription	NHLF	lung
35	chr15:76508000-76525400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr15:76508200-76512200	Weak transcription	Fetal Thymus	thymus
37	chr15:76508200-76514800	Weak transcription	Aorta	Aorta
38	chr15:76508200-76515200	Weak transcription	Thymus	Thymus
39	chr15:76508200-76515400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr15:76508200-76515600	Weak transcription	Right Ventricle	heart
41	chr15:76508200-76515800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr15:76508200-76521400	Weak transcription	NHDF-Ad	bronchial
43	chr15:76508400-76515000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr15:76508400-76515800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr15:76508400-76516000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:76508400-76516800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:76508400-76546000	Weak transcription	Brain Anterior Caudate	brain
48	chr15:76508600-76512000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:76508600-76512200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:76508600-76512800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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