Variant report

Variant	rs17141112
Chromosome Location	chr3:46467803-46467804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10490771	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11574432	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11574438	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11574444	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11575823	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1607738	0.85[AMR][1000 genomes]
rs17078868	1.00[MEX][hapmap]
rs17078932	0.85[AMR][1000 genomes]
rs17078949	0.80[MKK][hapmap];0.85[AMR][1000 genomes]
rs17141109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28584272	0.85[AMR][1000 genomes]
rs3918378	0.89[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs3918383	1.00[AMR][1000 genomes]
rs3918386	1.00[AMR][1000 genomes]
rs41469351	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41475349	1.00[AMR][1000 genomes]
rs41499550	1.00[AMR][1000 genomes]
rs4463007	0.87[AMR][1000 genomes]
rs57571354	0.85[AMR][1000 genomes]
rs58970771	0.85[AMR][1000 genomes]
rs59568150	0.85[AMR][1000 genomes]
rs60700685	0.85[AMR][1000 genomes]
rs61151866	0.85[AMR][1000 genomes]
rs61389423	0.85[AMR][1000 genomes]
rs61550542	0.85[AMR][1000 genomes]
rs61740461	0.85[AMR][1000 genomes]
rs6768139	1.00[MEX][hapmap]
rs72900271	0.85[AMR][1000 genomes]
rs72900273	0.85[AMR][1000 genomes]
rs72900285	0.85[AMR][1000 genomes]
rs72900298	0.85[AMR][1000 genomes]
rs72902113	0.85[AMR][1000 genomes]
rs72902116	0.85[AMR][1000 genomes]
rs72902152	0.85[AMR][1000 genomes]
rs72904172	0.85[AMR][1000 genomes]
rs72906018	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46455800-46496800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:46456600-46469400	Weak transcription	Right Atrium	heart
3	chr3:46458600-46469400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:46459400-46468600	Weak transcription	Fetal Intestine Small	intestine
5	chr3:46459400-46491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:46460200-46477000	Weak transcription	Pancreas	Pancrea
7	chr3:46461800-46477000	Weak transcription	Gastric	stomach
8	chr3:46464600-46468000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:46464800-46469400	Weak transcription	HSMMtube	muscle
10	chr3:46465200-46468000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr3:46465200-46488800	Weak transcription	Left Ventricle	heart
12	chr3:46465200-46488800	Weak transcription	Right Ventricle	heart
13	chr3:46465400-46468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:46465400-46468000	Weak transcription	Hela-S3	cervix
15	chr3:46465400-46468200	Weak transcription	Lung	lung
16	chr3:46465400-46470600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:46466200-46469800	Enhancers	Dnd41	blood
18	chr3:46467000-46468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:46467000-46468800	Enhancers	HMEC	breast
20	chr3:46467200-46468000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:46467200-46468600	Enhancers	Fetal Thymus	thymus
22	chr3:46467200-46474600	Weak transcription	Spleen	Spleen
23	chr3:46467400-46472200	Enhancers	NHEK	skin
24	chr3:46467600-46468200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:46467600-46468400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr3:46467600-46468600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:46467600-46468600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:46467600-46469000	Enhancers	Primary T cells from cord blood	blood
29	chr3:46467600-46469600	Enhancers	HSMM	muscle
30	chr3:46467600-46471000	Enhancers	Placenta	Placenta
31	chr3:46467800-46468200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr3:46467800-46468200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr3:46467800-46469600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr3:46467800-46470000	Enhancers	Fetal Lung	lung
35	chr3:46467800-46470600	Enhancers	Fetal Heart	heart

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