Variant report

Variant	rs284871
Chromosome Location	chr1:92166941-92166942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92155914..92157539-chr1:92165115..92168054,2	K562	blood:
2	chr1:92161234..92163653-chr1:92164578..92167182,3	K562	blood:
3	chr1:92140250..92142676-chr1:92166165..92167732,2	K562	blood:
4	chr1:92166691..92169573-chr1:92171812..92173535,2	K562	blood:
5	chr1:92166312..92168639-chr1:92169592..92172203,2	K562	blood:
6	chr1:92166312..92167932-chr1:92169592..92171150,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1012069	0.88[CHB][hapmap];0.84[CHD][hapmap]
rs10157635	0.81[CHB][hapmap];0.87[CHD][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs10157887	0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10874909	0.83[CHB][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11165347	0.89[CHB][hapmap]
rs12060235	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12065370	0.88[CHB][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1542703	0.89[CHB][hapmap];0.87[CHD][hapmap]
rs1613413	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17131536	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17131541	0.89[CHB][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2810889	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2810890	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs284866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs284867	0.87[CHB][hapmap];0.87[YRI][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs284868	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs284869	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs284872	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs284875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs284877	1.00[CHB][hapmap];0.97[CHD][hapmap]
rs284878	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][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	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92149000-92170000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:92149400-92172800	Weak transcription	Esophagus	oesophagus
3	chr1:92151200-92172800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:92152600-92184200	Strong transcription	HepG2	liver
5	chr1:92153000-92197000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:92155400-92178800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:92155600-92178800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:92155800-92171600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:92155800-92191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:92156000-92172800	Weak transcription	Gastric	stomach
11	chr1:92156200-92172800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:92156200-92177800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:92159000-92173600	Weak transcription	Fetal Kidney	kidney
14	chr1:92159400-92172800	Weak transcription	Aorta	Aorta
15	chr1:92159400-92173400	Weak transcription	Brain Substantia Nigra	brain
16	chr1:92159800-92171800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:92159800-92172800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:92159800-92172800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:92159800-92183800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:92162400-92167800	Enhancers	NHLF	lung
21	chr1:92162600-92172600	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:92163000-92167200	Weak transcription	Psoas Muscle	Psoas
23	chr1:92163200-92167200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:92163200-92167800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:92163200-92172800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:92163200-92172800	Weak transcription	Spleen	Spleen
27	chr1:92163200-92176800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:92163400-92169800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:92163400-92170400	Weak transcription	Left Ventricle	heart
30	chr1:92163400-92172600	Weak transcription	Fetal Intestine Large	intestine
31	chr1:92163800-92167000	Enhancers	NHDF-Ad	bronchial
32	chr1:92163800-92172200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:92163800-92173400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:92164000-92167200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:92164000-92172800	Weak transcription	Fetal Intestine Small	intestine
36	chr1:92164000-92184400	Weak transcription	Hela-S3	cervix
37	chr1:92164000-92195000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:92164200-92172600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:92164200-92173200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:92164200-92175000	Weak transcription	GM12878-XiMat	blood
41	chr1:92164200-92176000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:92164400-92170400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:92164600-92168800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:92164800-92177800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:92165000-92167200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:92165000-92167200	Weak transcription	Lung	lung
47	chr1:92165000-92172800	Weak transcription	Right Ventricle	heart
48	chr1:92165200-92177400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:92165400-92167400	Enhancers	Fetal Muscle Leg	muscle
50	chr1:92165400-92167600	Weak transcription	Pancreas	Pancrea

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