Variant report

Variant	rs3912831
Chromosome Location	chr3:49562627-49562628
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11130197	1.00[YRI][hapmap]
rs11130201	0.94[AFR][1000 genomes]
rs11708174	1.00[YRI][hapmap]
rs11717485	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1522929	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1568663	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17080495	1.00[EUR][1000 genomes]
rs17080510	1.00[EUR][1000 genomes]
rs17080567	1.00[EUR][1000 genomes]
rs17080664	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1996874	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs2131107	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2311794	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2311801	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2329024	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3870334	0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3870340	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4241409	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4452334	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4855856	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4855857	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4855870	0.84[AFR][1000 genomes]
rs4855872	1.00[EUR][1000 genomes]
rs4855874	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4855875	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4855876	1.00[EUR][1000 genomes]
rs4855878	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4855879	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs55808753	0.84[AFR][1000 genomes]
rs55990645	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56101322	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56760510	1.00[EUR][1000 genomes]
rs56897974	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59579780	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60011446	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61749312	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6446269	0.81[AFR][1000 genomes]
rs6446270	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6446271	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6446273	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6446276	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6446278	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs6446279	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6446280	0.86[AFR][1000 genomes]
rs6446281	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6446282	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6446283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6762593	1.00[YRI][hapmap]
rs6766297	1.00[EUR][1000 genomes]
rs6787665	1.00[EUR][1000 genomes]
rs6793124	1.00[EUR][1000 genomes]
rs6797164	1.00[YRI][hapmap]
rs73830703	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73830704	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73830705	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73830706	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73831434	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73831435	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831438	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831439	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831440	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831441	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831442	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73834006	1.00[AMR][1000 genomes]
rs7646393	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8179172	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9311441	0.84[AFR][1000 genomes]
rs9830627	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9861805	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	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49529600-49568600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:49539600-49568600	Weak transcription	Small Intestine	intestine
3	chr3:49546200-49577000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr3:49547000-49572000	Weak transcription	Fetal Brain Male	brain
5	chr3:49547600-49564200	Strong transcription	Fetal Intestine Small	intestine
6	chr3:49547800-49562800	Strong transcription	Fetal Stomach	stomach
7	chr3:49548000-49562800	Strong transcription	Fetal Intestine Large	intestine
8	chr3:49548400-49577400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:49549200-49568800	Weak transcription	Osteobl	bone
10	chr3:49550800-49568400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:49551400-49571400	Weak transcription	Stomach Mucosa	stomach
12	chr3:49551400-49572200	Weak transcription	NH-A	brain
13	chr3:49551600-49567600	Weak transcription	K562	blood
14	chr3:49551600-49569400	Weak transcription	Fetal Kidney	kidney
15	chr3:49553800-49568400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:49554000-49567000	Weak transcription	A549	lung
17	chr3:49554000-49567600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:49554400-49568200	Weak transcription	NHDF-Ad	bronchial
19	chr3:49555400-49564000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:49555400-49567600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:49555400-49567600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:49555400-49567800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:49555400-49568000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:49555400-49568200	Weak transcription	NHLF	lung
25	chr3:49555400-49568600	Weak transcription	Fetal Lung	lung
26	chr3:49555600-49567800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:49555800-49568400	Weak transcription	HUVEC	blood vessel
28	chr3:49555800-49572200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:49556000-49568000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr3:49556000-49568000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr3:49556000-49568600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr3:49556200-49567000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:49556200-49567400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr3:49556200-49567600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:49556200-49568000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr3:49556400-49567800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:49556400-49567800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr3:49556600-49566800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr3:49556600-49567200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:49557000-49567800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr3:49557000-49567800	Weak transcription	Colonic Mucosa	Colon
42	chr3:49557000-49568400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:49557200-49567800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:49557200-49568200	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:49557600-49572000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:49557800-49567400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr3:49557800-49567400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr3:49557800-49567600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr3:49558000-49562800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:49558000-49562800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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