Variant report

Variant	rs1848554
Chromosome Location	chr5:118725322-118725323
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	chr5:118656086..118659257-chr5:118722811..118726060,3	K562	blood:
2	chr5:118717603..118720239-chr5:118724009..118726196,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10077888	0.83[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1047322	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10478421	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10478422	0.96[CEU][hapmap];0.95[CHB][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1105769	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1105770	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11205	0.95[CHB][hapmap]
rs11241507	0.95[CHB][hapmap]
rs1155777	0.95[CHB][hapmap]
rs11949608	0.90[CHB][hapmap]
rs1490756	0.91[CHB][hapmap]
rs1509144	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs150938	0.95[CHB][hapmap]
rs165995	0.89[CHB][hapmap]
rs17145464	0.90[CHB][hapmap]
rs192225	0.86[JPT][hapmap]
rs193346	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1995794	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2455466	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2455467	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2457222	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs250302	0.90[JPT][hapmap]
rs250303	0.95[JPT][hapmap]
rs250304	0.81[JPT][hapmap]
rs257969	0.91[CHB][hapmap]
rs257985	0.95[CHB][hapmap]
rs258047	0.83[AMR][1000 genomes]
rs258051	0.83[AMR][1000 genomes]
rs2914210	0.95[CHB][hapmap]
rs32652	0.89[JPT][hapmap]
rs32654	0.90[JPT][hapmap]
rs3733855	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3797368	1.00[CHB][hapmap];0.80[GIH][hapmap]
rs3797372	0.95[CHB][hapmap]
rs3813309	0.90[JPT][hapmap]
rs3822527	0.85[CHB][hapmap]
rs455991	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4895369	0.85[JPT][hapmap]
rs6874848	0.95[JPT][hapmap]
rs6888436	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6888463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6893184	0.96[EUR][1000 genomes]
rs7716785	0.94[CHB][hapmap]
rs7721752	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs924623	0.92[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes];0.88[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	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118702800-118736000	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:118704400-118728400	Weak transcription	Hela-S3	cervix
3	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:118709400-118727800	Weak transcription	Dnd41	blood
5	chr5:118711400-118728400	Weak transcription	A549	lung
6	chr5:118711800-118725800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr5:118712400-118726400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr5:118712400-118732600	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr5:118712800-118726200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:118714400-118729200	Weak transcription	HSMMtube	muscle
11	chr5:118715400-118728800	Weak transcription	Placenta	Placenta
12	chr5:118717200-118731000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:118718600-118726400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:118718600-118737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:118720600-118728600	Weak transcription	Thymus	Thymus
16	chr5:118721600-118726800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:118721800-118726000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:118721800-118728800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:118722000-118725400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:118722000-118725800	Enhancers	Adipose Nuclei	Adipose
21	chr5:118722400-118727200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:118722600-118728600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:118722600-118730600	Weak transcription	Lung	lung
24	chr5:118722600-118733600	Weak transcription	Small Intestine	intestine
25	chr5:118722800-118731200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:118723000-118734800	Weak transcription	Gastric	stomach
27	chr5:118723000-118747600	Weak transcription	Pancreas	Pancrea
28	chr5:118723400-118726400	Enhancers	Colon Smooth Muscle	Colon
29	chr5:118723600-118725600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
30	chr5:118723600-118727800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:118723800-118725400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:118723800-118732400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:118724000-118725400	Enhancers	Spleen	Spleen
34	chr5:118724000-118726000	Enhancers	Fetal Heart	heart
35	chr5:118724000-118728400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:118724200-118726400	Enhancers	Primary B cells from cord blood	blood
37	chr5:118724200-118728600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr5:118724200-118734800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:118724400-118725400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:118724400-118725800	Enhancers	Fetal Stomach	stomach
41	chr5:118724400-118728600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:118724400-118728600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:118724400-118728600	Weak transcription	NHEK	skin
44	chr5:118724400-118729200	Weak transcription	HMEC	breast
45	chr5:118724600-118725600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr5:118724600-118725800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr5:118724600-118725800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr5:118724600-118725800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:118724600-118725800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:118724600-118725800	Enhancers	K562	blood

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