Variant report

Variant	rs2684916
Chromosome Location	chr1:84617790-84617791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1016379	0.92[EUR][1000 genomes]
rs12027198	0.84[EUR][1000 genomes]
rs12031206	0.93[EUR][1000 genomes]
rs12031621	0.84[EUR][1000 genomes]
rs12035258	0.93[EUR][1000 genomes]
rs12036564	0.82[EUR][1000 genomes]
rs12039822	0.83[EUR][1000 genomes]
rs2139931	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2221360	0.86[EUR][1000 genomes]
rs2642181	0.92[EUR][1000 genomes]
rs2642182	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2642183	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2642184	0.92[EUR][1000 genomes]
rs2642185	0.85[EUR][1000 genomes]
rs2684911	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2684914	0.92[EUR][1000 genomes]
rs2811998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811999	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2812001	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2812447	0.98[EUR][1000 genomes]
rs2812451	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2812452	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2812453	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28810071	0.83[EUR][1000 genomes]
rs72710880	0.98[EUR][1000 genomes]
rs72710887	0.86[EUR][1000 genomes]
rs72711180	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv871731	chr1:84597396-84658591	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871656	chr1:84601048-84693671	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997601	chr1:84609346-84672859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1005225	chr1:84609871-84667950	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1002537	chr1:84611207-84658450	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv999772	chr1:84611207-84667218	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84588000-84618400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:84610200-84621800	Weak transcription	Aorta	Aorta
3	chr1:84610200-84621800	Weak transcription	Small Intestine	intestine
4	chr1:84610200-84622000	Weak transcription	HSMM	muscle
5	chr1:84610400-84633400	Weak transcription	Fetal Kidney	kidney
6	chr1:84611600-84629800	Weak transcription	Fetal Stomach	stomach
7	chr1:84612600-84621400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:84612600-84621400	Weak transcription	NHDF-Ad	bronchial
9	chr1:84612600-84621600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:84612600-84621800	Weak transcription	NH-A	brain
11	chr1:84612800-84621600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:84612800-84628800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:84613200-84623400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:84614000-84617800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:84614000-84621000	Weak transcription	HUVEC	blood vessel
16	chr1:84614000-84621200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:84614000-84633800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:84614600-84625600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:84614800-84618000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:84614800-84618200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:84614800-84620000	Weak transcription	Dnd41	blood
22	chr1:84614800-84629000	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:84615200-84618000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:84615400-84621600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:84615800-84618000	Weak transcription	Psoas Muscle	Psoas
26	chr1:84615800-84619400	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:84615800-84623800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr1:84615800-84634800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:84616000-84618400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr1:84616000-84623000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:84616200-84618200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr1:84616200-84618800	Strong transcription	Fetal Thymus	thymus
33	chr1:84616200-84619000	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr1:84616200-84622800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr1:84616200-84635200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:84616400-84619800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:84616400-84623000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr1:84616800-84618800	Genic enhancers	Primary B cells from cord blood	blood
39	chr1:84617000-84618200	Enhancers	Thymus	Thymus
40	chr1:84617000-84618600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr1:84617000-84618800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:84617000-84619800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:84617200-84617800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:84617200-84618000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:84617200-84618400	Weak transcription	GM12878-XiMat	blood
46	chr1:84617400-84617800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:84617400-84618800	Genic enhancers	Primary T cells from cord blood	blood
48	chr1:84617600-84620000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links