Variant report

Variant	rs72942264
Chromosome Location	chr3:101177382-101177383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1078153	0.89[EUR][1000 genomes]
rs11929578	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12491044	0.88[EUR][1000 genomes]
rs12696325	0.89[EUR][1000 genomes]
rs1426386	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1464361	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1569071	0.89[EUR][1000 genomes]
rs2176887	0.84[EUR][1000 genomes]
rs2433032	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2449824	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460721	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2553414	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2553420	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2553421	0.82[EUR][1000 genomes]
rs2553422	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2553423	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2553428	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2682387	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2682389	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3846092	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4234491	0.89[EUR][1000 genomes]
rs4683930	0.88[EUR][1000 genomes]
rs472751	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs485037	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs485793	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs503252	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs503669	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs504482	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs513283	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs524261	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs534119	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs535779	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs551395	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs554030	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs556820	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs565914	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs566292	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61379928	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs63482	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6768114	0.88[EUR][1000 genomes]
rs6768182	0.89[EUR][1000 genomes]
rs6779278	0.89[EUR][1000 genomes]
rs6779775	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6788864	0.89[EUR][1000 genomes]
rs6791803	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72942230	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948053	0.88[EUR][1000 genomes]
rs7618600	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7621062	0.89[EUR][1000 genomes]
rs7638284	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7648141	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs770968	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9917699	0.95[AMR][1000 genomes];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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101141000-101185600	Weak transcription	Right Ventricle	heart
2	chr3:101146000-101185600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:101160200-101185600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:101160200-101210800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr3:101160600-101183200	Weak transcription	Psoas Muscle	Psoas
6	chr3:101160600-101184000	Weak transcription	Spleen	Spleen
7	chr3:101160600-101185600	Weak transcription	Gastric	stomach
8	chr3:101161400-101183800	Weak transcription	Lung	lung
9	chr3:101161400-101185600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:101161400-101196800	Weak transcription	Thymus	Thymus
11	chr3:101161400-101207600	Weak transcription	Aorta	Aorta
12	chr3:101164400-101185400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:101164600-101177400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:101164600-101179800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:101165200-101183200	Weak transcription	Fetal Brain Male	brain
16	chr3:101165400-101185400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:101165600-101183200	Weak transcription	Brain Angular Gyrus	brain
18	chr3:101166000-101179400	Weak transcription	Brain Germinal Matrix	brain
19	chr3:101166600-101178400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:101167200-101184000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr3:101167400-101177400	Weak transcription	Fetal Lung	lung
22	chr3:101168000-101183000	Weak transcription	Fetal Intestine Small	intestine
23	chr3:101170600-101184000	Weak transcription	Esophagus	oesophagus
24	chr3:101170800-101185600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:101171000-101179800	Weak transcription	Placenta	Placenta
26	chr3:101171000-101185600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:101171200-101185200	Weak transcription	Fetal Heart	heart
28	chr3:101171200-101230400	Weak transcription	Brain Substantia Nigra	brain
29	chr3:101171400-101178800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:101171400-101183000	Weak transcription	Fetal Brain Female	brain
31	chr3:101171400-101193400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:101171400-101207800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:101173000-101180000	Weak transcription	Fetal Kidney	kidney
34	chr3:101173200-101177600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:101173200-101183800	Weak transcription	K562	blood
36	chr3:101173400-101180200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:101173600-101177800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:101173800-101179200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr3:101174000-101202000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:101174600-101177600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr3:101174600-101184000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:101174600-101184200	Weak transcription	HepG2	liver
43	chr3:101174600-101185000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:101174600-101211000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr3:101174800-101177400	Weak transcription	Osteobl	bone
46	chr3:101174800-101184200	Weak transcription	HUVEC	blood vessel
47	chr3:101175000-101177600	Strong transcription	Primary B cells from cord blood	blood
48	chr3:101175000-101177800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:101175200-101178000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr3:101175400-101177600	Weak transcription	HSMMtube	muscle

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