Variant report

Variant	rs10797999
Chromosome Location	chr1:185137628-185137629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185135577..185140535-chr1:185283801..185287464,5	K562	blood:
2	chr1:185118825..185122081-chr1:185134391..185138048,3	K562	blood:
3	chr1:185126350..185129107-chr1:185136978..185138864,2	K562	blood:
4	chr1:185135724..185140535-chr1:185281992..185285991,5	K562	blood:
5	chr1:185122329..185126145-chr1:185137203..185141899,4	K562	blood:

Variant related genes	Relation type
ENSG00000273004	Chromatin interaction
ENSG00000116679	Chromatin interaction
ENSG00000121486	Chromatin interaction
ENSG00000116668	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1046592	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs10489580	0.82[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10737256	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[MKK][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10752945	0.84[ASN][1000 genomes]
rs10797998	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs10798000	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10911678	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10911680	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11588646	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12025737	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12030554	0.84[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs12081098	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12086086	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12404187	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs12404644	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs12566975	0.92[ASN][1000 genomes]
rs1322646	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[MKK][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1407555	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1407556	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1407557	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1544052	0.86[CHB][hapmap]
rs1591585	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1884447	0.90[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[MKK][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2057222	0.90[ASW][hapmap];0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[MKK][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2146329	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753569	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4549995	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6424971	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs6424972	0.82[CHB][hapmap]
rs6660169	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs6673303	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6674490	0.90[ASW][hapmap];1.00[CEU][hapmap];0.89[MKK][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6684586	1.00[CEU][hapmap]
rs6700484	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7512290	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs7519019	0.96[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7533198	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7547420	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127200-185147000	Weak transcription	Spleen	Spleen
2	chr1:185127200-185169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:185127400-185144400	Weak transcription	Pancreas	Pancrea
4	chr1:185127400-185152200	Weak transcription	Aorta	Aorta
5	chr1:185127400-185153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:185127400-185157400	Weak transcription	Small Intestine	intestine
7	chr1:185127400-185163400	Weak transcription	Esophagus	oesophagus
8	chr1:185127400-185192000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:185127600-185138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:185127600-185138800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:185127600-185139200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:185127600-185139400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:185127600-185139400	Weak transcription	Fetal Kidney	kidney
14	chr1:185127600-185144400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:185127600-185144800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:185127600-185145200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:185127600-185145400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:185127600-185147400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:185127600-185170000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:185127600-185184600	Weak transcription	Psoas Muscle	Psoas
21	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
22	chr1:185127800-185147000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:185128000-185166400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:185128200-185139400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:185128200-185139400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:185128200-185139400	Weak transcription	Dnd41	blood
27	chr1:185128200-185147200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:185128200-185153800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:185128200-185161200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:185128400-185139400	Weak transcription	Hela-S3	cervix
31	chr1:185128400-185139600	Weak transcription	NHLF	lung
32	chr1:185128400-185145400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:185128400-185155200	Weak transcription	NHDF-Ad	bronchial
34	chr1:185128400-185193800	Weak transcription	Brain Angular Gyrus	brain
35	chr1:185128400-185201800	Weak transcription	Gastric	stomach
36	chr1:185128600-185168200	Weak transcription	Fetal Heart	heart
37	chr1:185128600-185171400	Weak transcription	Fetal Brain Male	brain
38	chr1:185129200-185139200	Weak transcription	K562	blood
39	chr1:185129600-185138200	Weak transcription	HSMM	muscle
40	chr1:185130200-185138000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:185130400-185137800	Strong transcription	Adipose Nuclei	Adipose
42	chr1:185130800-185139400	Weak transcription	Fetal Thymus	thymus
43	chr1:185130800-185139400	Weak transcription	GM12878-XiMat	blood
44	chr1:185131600-185173000	Weak transcription	Brain Substantia Nigra	brain
45	chr1:185132000-185155800	Weak transcription	HSMMtube	muscle
46	chr1:185132200-185138000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:185133400-185138000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:185133400-185138000	Strong transcription	Placenta	Placenta
49	chr1:185133400-185138000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:185133400-185138800	Strong transcription	Liver	Liver

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