Variant report

Variant	rs924623
Chromosome Location	chr5:118715275-118715276
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118713895..118716376-chr5:118719102..118721687,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10077888	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1047322	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10478422	0.88[CEU][hapmap];0.87[CHB][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs1105769	0.91[EUR][1000 genomes]
rs1105770	0.90[EUR][1000 genomes]
rs11205	0.87[CHB][hapmap]
rs11241507	0.86[CHB][hapmap]
rs1155777	0.86[CHB][hapmap]
rs11949608	0.81[CHB][hapmap]
rs1490756	0.82[CHB][hapmap];0.80[GIH][hapmap];1.00[LWK][hapmap]
rs1509144	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs150938	0.86[CHB][hapmap]
rs165995	0.89[CHB][hapmap]
rs17145464	0.81[CHB][hapmap]
rs1848554	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]
rs192225	0.86[JPT][hapmap]
rs1995794	0.84[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs250302	0.90[JPT][hapmap]
rs250303	0.95[JPT][hapmap];1.00[LWK][hapmap]
rs250304	0.81[JPT][hapmap]
rs257969	0.84[ASW][hapmap];0.82[CHB][hapmap];1.00[LWK][hapmap]
rs257973	1.00[LWK][hapmap]
rs257985	0.86[CHB][hapmap]
rs2914210	0.84[ASW][hapmap];0.87[CHB][hapmap];1.00[LWK][hapmap]
rs32652	0.83[CEU][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap]
rs32654	0.84[CEU][hapmap];0.90[JPT][hapmap]
rs3733855	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3797368	0.84[ASW][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap];1.00[LWK][hapmap]
rs3797372	0.87[CHB][hapmap];0.80[GIH][hapmap]
rs3813309	0.81[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap]
rs455991	0.88[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs457106	1.00[LWK][hapmap]
rs4895369	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs6874848	0.95[JPT][hapmap]
rs6888436	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6888463	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6893184	0.90[EUR][1000 genomes]
rs7716785	0.89[CHB][hapmap]
rs7721752	0.92[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.86[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	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118702800-118715400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:118702800-118720000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:118702800-118720800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:118702800-118722400	Weak transcription	Spleen	Spleen
5	chr5:118702800-118723800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:118702800-118736000	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:118704400-118722800	Weak transcription	HMEC	breast
8	chr5:118704400-118728400	Weak transcription	Hela-S3	cervix
9	chr5:118704600-118723400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:118706400-118720600	Weak transcription	Small Intestine	intestine
11	chr5:118706600-118722400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:118706800-118717800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:118707400-118718600	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:118707800-118716800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:118709400-118719800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:118709400-118727800	Weak transcription	Dnd41	blood
18	chr5:118709600-118723400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:118710200-118715400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:118711400-118728400	Weak transcription	A549	lung
21	chr5:118711800-118725800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr5:118712200-118724600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr5:118712400-118726400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr5:118712400-118732600	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr5:118712800-118717200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr5:118712800-118726200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:118713000-118721200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:118713600-118716000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:118713600-118717200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:118713600-118717800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr5:118713800-118716200	Enhancers	Fetal Heart	heart
32	chr5:118713800-118716400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr5:118714000-118719400	Genic enhancers	Primary T cells from cord blood	blood
34	chr5:118714000-118721000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:118714000-118722000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:118714000-118723400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr5:118714000-118725200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:118714200-118721000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr5:118714400-118715400	Genic enhancers	Primary B cells from cord blood	blood
40	chr5:118714400-118715400	Enhancers	Placenta	Placenta
41	chr5:118714400-118719000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:118714400-118720400	Weak transcription	Fetal Lung	lung
43	chr5:118714400-118722200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:118714400-118725200	Weak transcription	Aorta	Aorta
45	chr5:118714400-118729200	Weak transcription	HSMMtube	muscle
46	chr5:118714600-118716200	Enhancers	Fetal Stomach	stomach
47	chr5:118714600-118720200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:118714800-118719000	Weak transcription	Adipose Nuclei	Adipose
49	chr5:118715000-118715600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr5:118715000-118715600	Genic enhancers	Thymus	Thymus

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