Variant report

Variant	rs7723933
Chromosome Location	chr5:118732373-118732374
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	chr5:118726523..118729278-chr5:118732222..118734647,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10041464	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10053031	1.00[ASN][1000 genomes]
rs10055743	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10064524	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064668	1.00[ASN][1000 genomes]
rs10064783	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10069480	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1045241	0.85[YRI][hapmap]
rs10519575	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10519576	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11539471	1.00[JPT][hapmap]
rs11746780	1.00[JPT][hapmap]
rs11748477	1.00[JPT][hapmap]
rs11748530	1.00[JPT][hapmap]
rs11957255	1.00[JPT][hapmap]
rs17145194	1.00[JPT][hapmap]
rs17145196	1.00[JPT][hapmap]
rs17145259	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17145372	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17145471	1.00[JPT][hapmap]
rs17145473	1.00[JPT][hapmap]
rs17145475	1.00[JPT][hapmap]
rs17145476	1.00[JPT][hapmap]
rs17385942	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2560718	1.00[JPT][hapmap]
rs3733856	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3797344	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797345	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813305	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3850201	1.00[JPT][hapmap]
rs4895192	1.00[ASN][1000 genomes]
rs4895374	1.00[ASN][1000 genomes]
rs55682871	0.82[AMR][1000 genomes]
rs55796175	1.00[ASN][1000 genomes]
rs55933899	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56206018	1.00[ASN][1000 genomes]
rs56303741	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57598751	1.00[ASN][1000 genomes]
rs57722161	1.00[ASN][1000 genomes]
rs59034186	1.00[ASN][1000 genomes]
rs59119324	1.00[ASN][1000 genomes]
rs59406275	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60795377	1.00[ASN][1000 genomes]
rs60832077	1.00[ASN][1000 genomes]
rs61412235	1.00[ASN][1000 genomes]
rs61415411	1.00[ASN][1000 genomes]
rs6595184	1.00[ASN][1000 genomes]
rs66534333	1.00[ASN][1000 genomes]
rs67967956	1.00[ASN][1000 genomes]
rs68024523	1.00[ASN][1000 genomes]
rs6860034	1.00[ASN][1000 genomes]
rs6860944	0.93[AFR][1000 genomes]
rs6862941	1.00[ASN][1000 genomes]
rs6869623	1.00[ASN][1000 genomes]
rs6876817	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6882000	1.00[CEU][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6883394	1.00[JPT][hapmap]
rs6891981	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786113	1.00[ASN][1000 genomes]
rs72786116	1.00[ASN][1000 genomes]
rs72786125	1.00[ASN][1000 genomes]
rs72786136	1.00[ASN][1000 genomes]
rs72786143	1.00[ASN][1000 genomes]
rs72786161	1.00[ASN][1000 genomes]
rs72788123	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72788136	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788144	1.00[ASN][1000 genomes]
rs72788145	1.00[ASN][1000 genomes]
rs72788146	1.00[ASN][1000 genomes]
rs72788148	1.00[ASN][1000 genomes]
rs72788162	1.00[ASN][1000 genomes]
rs72788163	1.00[ASN][1000 genomes]
rs72788165	1.00[ASN][1000 genomes]
rs72788177	1.00[ASN][1000 genomes]
rs72788186	1.00[ASN][1000 genomes]
rs73237289	1.00[ASN][1000 genomes]
rs73790852	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73790861	0.94[AFR][1000 genomes]
rs73790862	1.00[ASN][1000 genomes]
rs73794110	1.00[ASN][1000 genomes]
rs7701561	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701688	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7704291	1.00[JPT][hapmap]
rs7704487	1.00[JPT][hapmap]
rs7722172	0.85[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723390	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7725244	1.00[ASN][1000 genomes]
rs7729690	1.00[ASN][1000 genomes]
rs7731552	0.82[AMR][1000 genomes]
rs7734378	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737934	1.00[JPT][hapmap]
rs9327100	1.00[CEU][hapmap]

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	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
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:118712400-118732600	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr5:118718600-118737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:118722600-118733600	Weak transcription	Small Intestine	intestine
6	chr5:118723000-118734800	Weak transcription	Gastric	stomach
7	chr5:118723000-118747600	Weak transcription	Pancreas	Pancrea
8	chr5:118723800-118732400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:118724200-118734800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:118724600-118733000	Weak transcription	Liver	Liver
11	chr5:118725000-118733400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:118725000-118733600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:118725000-118735600	Weak transcription	Fetal Intestine Large	intestine
14	chr5:118725400-118734800	Weak transcription	Esophagus	oesophagus
15	chr5:118725400-118734800	Weak transcription	Left Ventricle	heart
16	chr5:118725400-118734800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:118725400-118734800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:118725400-118736200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:118725400-118741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:118725600-118732800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:118725600-118733000	Weak transcription	NHLF	lung
22	chr5:118725600-118734600	Weak transcription	Fetal Kidney	kidney
23	chr5:118725600-118735800	Weak transcription	Aorta	Aorta
24	chr5:118725600-118737800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:118725800-118733000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:118725800-118733600	Weak transcription	Fetal Lung	lung
27	chr5:118725800-118734800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:118725800-118737800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:118725800-118737800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:118725800-118737800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:118726000-118733600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:118726000-118736000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:118727000-118738000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:118727000-118740800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:118727400-118735800	Weak transcription	Fetal Intestine Small	intestine
36	chr5:118728600-118732400	Genic enhancers	Primary B cells from cord blood	blood
37	chr5:118728800-118736000	Weak transcription	Fetal Stomach	stomach
38	chr5:118729000-118738600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:118729200-118734800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:118729400-118732800	Weak transcription	A549	lung
41	chr5:118729400-118733000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
42	chr5:118729400-118733800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:118729400-118734600	Weak transcription	Stomach Mucosa	stomach
44	chr5:118729600-118732800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:118729600-118733600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:118729600-118733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:118729600-118738000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:118729600-118747400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:118730000-118732800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:118730000-118732800	Weak transcription	HMEC	breast

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