Variant report

Variant	rs71518861
Chromosome Location	chr8:103383856-103383857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103382978..103384623-chr8:103386159..103388711,2	K562	blood:
2	chr8:103383132..103388008-chr8:103389568..103392720,5	K562	blood:
3	chr8:103379226..103381573-chr8:103382317..103384818,2	MCF-7	breast:
4	chr8:103382240..103386598-chr8:103388176..103391903,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRM2B-6	chr8:103383622-103384110	expReg_chr8_5481_-

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs13248603	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13250998	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259151	0.87[EUR][1000 genomes]
rs13261528	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262662	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13263132	0.87[EUR][1000 genomes]
rs13269311	0.87[EUR][1000 genomes]
rs13270908	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13278798	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13278875	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28927991	0.80[EUR][1000 genomes]
rs34270914	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34278087	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34279135	0.85[EUR][1000 genomes]
rs34297513	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34351006	0.85[EUR][1000 genomes]
rs34356268	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34730203	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34976508	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35166521	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35316247	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35558370	0.85[EUR][1000 genomes]
rs35873559	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35969173	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35980679	0.82[EUR][1000 genomes]
rs36178006	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3899035	1.00[ASN][1000 genomes]
rs4483125	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003023	0.87[EUR][1000 genomes]
rs56280439	1.00[ASN][1000 genomes]
rs59572423	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71518852	0.87[EUR][1000 genomes]
rs71518862	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72681138	1.00[ASN][1000 genomes]
rs73698788	0.85[AFR][1000 genomes]
rs7845877	0.85[EUR][1000 genomes]
rs9650000	0.87[EUR][1000 genomes]
rs9650001	0.87[EUR][1000 genomes]
rs9650002	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak 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	24 gene(s)	inside rSNPs	diseases
7	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
9	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103365400-103387800	Weak transcription	Stomach Mucosa	stomach
2	chr8:103365800-103387600	Weak transcription	Fetal Heart	heart
3	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
4	chr8:103370000-103386000	Weak transcription	NHEK	skin
5	chr8:103371600-103387200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:103371600-103394400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:103372400-103388200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:103372400-103394200	Weak transcription	Thymus	Thymus
9	chr8:103372400-103395200	Weak transcription	Fetal Brain Female	brain
10	chr8:103372400-103412600	Weak transcription	Fetal Intestine Large	intestine
11	chr8:103372600-103393000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:103372600-103393200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:103372800-103387800	Weak transcription	HMEC	breast
14	chr8:103372800-103394200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:103372800-103394400	Weak transcription	Brain Germinal Matrix	brain
16	chr8:103372800-103403800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:103372800-103410200	Weak transcription	Fetal Kidney	kidney
18	chr8:103373000-103394400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:103373000-103395000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:103373000-103395400	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:103373000-103402400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:103373200-103387600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:103373200-103401400	Weak transcription	Hela-S3	cervix
24	chr8:103373400-103387200	Weak transcription	Placenta	Placenta
25	chr8:103373400-103388000	Weak transcription	HSMM	muscle
26	chr8:103373400-103394200	Weak transcription	Primary T cells from cord blood	blood
27	chr8:103373400-103394200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:103373600-103394600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:103374400-103386600	Weak transcription	Dnd41	blood
30	chr8:103376600-103388000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:103377600-103387200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:103379800-103384000	Weak transcription	Ovary	ovary
33	chr8:103379800-103387800	Weak transcription	Brain Substantia Nigra	brain
34	chr8:103379800-103387800	Weak transcription	Fetal Lung	lung
35	chr8:103380200-103386000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:103380200-103393200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:103380200-103397800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:103380800-103386000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:103380800-103387600	Weak transcription	Liver	Liver
40	chr8:103380800-103387800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:103380800-103387800	Weak transcription	Spleen	Spleen
42	chr8:103380800-103387800	Weak transcription	NHDF-Ad	bronchial
43	chr8:103380800-103390800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:103381000-103384000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:103381000-103385600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:103381000-103386000	Weak transcription	K562	blood
47	chr8:103381000-103386400	Weak transcription	Small Intestine	intestine
48	chr8:103381000-103386400	Weak transcription	NHLF	lung
49	chr8:103381000-103386600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:103381000-103386800	Weak transcription	Adipose Nuclei	Adipose

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