Variant report

Variant	rs2038929
Chromosome Location	chr1:92117203-92117204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92111551..92113673-chr1:92116483..92118232,2	K562	blood:
2	chr1:92114681..92117340-chr1:92119147..92120914,2	K562	blood:
3	chr1:92116629..92119391-chr1:92121529..92123186,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11165142	0.81[AFR][1000 genomes]
rs12022829	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12042254	0.85[AFR][1000 genomes]
rs12044983	0.87[ASN][1000 genomes]
rs17131515	0.95[AFR][1000 genomes]
rs2182425	0.89[ASN][1000 genomes]
rs2478172	0.84[JPT][hapmap]
rs4658107	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4658249	0.88[AFR][1000 genomes]
rs57694032	0.83[AFR][1000 genomes]
rs60171571	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92109600-92119600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:92115200-92118200	Enhancers	NHDF-Ad	bronchial
3	chr1:92115400-92117600	Enhancers	Placenta	Placenta
4	chr1:92115400-92118200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:92115600-92118000	Enhancers	Ovary	ovary
6	chr1:92115600-92118000	Enhancers	NHLF	lung
7	chr1:92115800-92117400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:92115800-92117400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:92115800-92117800	Enhancers	NH-A	brain
10	chr1:92115800-92118000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:92115800-92118000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:92115800-92118000	Enhancers	Osteobl	bone
13	chr1:92116000-92117400	Enhancers	HSMM	muscle
14	chr1:92116000-92117800	Enhancers	Fetal Lung	lung
15	chr1:92116000-92118000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:92116000-92118000	Enhancers	Fetal Muscle Leg	muscle
17	chr1:92116000-92118000	Enhancers	Fetal Stomach	stomach
18	chr1:92116000-92118000	Enhancers	Right Atrium	heart
19	chr1:92116000-92118000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:92116000-92118400	Enhancers	Adipose Nuclei	Adipose
21	chr1:92116200-92117400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:92116200-92117400	Enhancers	Right Ventricle	heart
23	chr1:92116200-92117800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:92116200-92117800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:92116200-92117800	Enhancers	Fetal Muscle Trunk	muscle
26	chr1:92116200-92117800	Enhancers	Left Ventricle	heart
27	chr1:92116200-92118000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:92116200-92118000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:92116200-92118000	Enhancers	Stomach Smooth Muscle	stomach
30	chr1:92116200-92118800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:92116400-92117400	Enhancers	K562	blood
32	chr1:92116400-92117600	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:92116400-92119400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:92116600-92117400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:92116600-92117400	Enhancers	Lung	lung
36	chr1:92116600-92118000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:92116600-92118000	Enhancers	Psoas Muscle	Psoas
38	chr1:92116600-92118200	Weak transcription	Primary B cells from cord blood	blood
39	chr1:92116800-92117800	Weak transcription	Esophagus	oesophagus
40	chr1:92116800-92118000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:92116800-92118200	Weak transcription	GM12878-XiMat	blood
42	chr1:92116800-92124600	Weak transcription	Aorta	Aorta
43	chr1:92117000-92117400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr1:92117000-92117400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:92117000-92117400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr1:92117000-92117800	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:92117000-92118000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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