Variant report

Variant	rs6875982
Chromosome Location	chr5:127529197-127529198
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127104207..127105950-chr5:127527587..127530496,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10057122	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10059867	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10060181	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10060390	1.00[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10061367	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10064357	0.83[EUR][1000 genomes]
rs10089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10223203	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10223313	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10463838	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10463839	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10478796	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10478798	1.00[CEU][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs10478803	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11957052	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13355233	1.00[CEU][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13356473	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13357268	1.00[CEU][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1432614	0.95[CEU][hapmap];0.90[JPT][hapmap]
rs1432615	0.95[CEU][hapmap];0.95[JPT][hapmap]
rs1559263	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1560636	1.00[CEU][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17164310	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17164427	0.95[CEU][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap]
rs17764954	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1842006	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1864922	1.00[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes]
rs1864923	1.00[CEU][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs1962291	1.00[CEU][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2016015	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054444	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2228112	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2409109	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2898096	1.00[CEU][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs3087889	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792866	1.00[CEU][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3805606	1.00[CEU][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3805607	1.00[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3805612	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3805615	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3816006	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4835941	1.00[CEU][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4835943	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4835944	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835945	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836360	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4836361	1.00[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4836363	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4836366	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4836367	1.00[CEU][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4836368	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4836369	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4836370	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56066100	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59484271	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6595806	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6595807	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6862701	0.95[CEU][hapmap];0.91[JPT][hapmap]
rs6873339	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs6887674	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6887847	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72794392	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72794396	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72794400	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72794401	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs736969	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7703634	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7713860	1.00[CEU][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs7718286	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs883074	0.90[CEU][hapmap];0.91[JPT][hapmap]
rs891886	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9968597	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6875982	FBN2	cis	parietal	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127441200-127536800	Weak transcription	Colonic Mucosa	Colon
2	chr5:127457600-127534400	Weak transcription	Pancreas	Pancrea
3	chr5:127463200-127533000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:127465400-127532200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:127468000-127536800	Weak transcription	Fetal Brain Female	brain
6	chr5:127478600-127531600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:127479200-127532200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:127480600-127532400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:127480600-127534400	Weak transcription	Gastric	stomach
10	chr5:127485000-127536800	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:127488600-127533200	Weak transcription	Stomach Mucosa	stomach
12	chr5:127490400-127532800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:127490800-127529200	Weak transcription	Aorta	Aorta
14	chr5:127490800-127536600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:127493200-127529200	Weak transcription	Psoas Muscle	Psoas
16	chr5:127494400-127534800	Weak transcription	Liver	Liver
17	chr5:127494400-127536800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:127494600-127534400	Weak transcription	HUVEC	blood vessel
19	chr5:127498400-127532200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:127499000-127532400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:127499000-127533400	Weak transcription	GM12878-XiMat	blood
22	chr5:127499200-127534600	Weak transcription	Lung	lung
23	chr5:127500400-127532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:127500400-127536800	Weak transcription	NHEK	skin
25	chr5:127504600-127536800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:127508400-127533200	Weak transcription	A549	lung
27	chr5:127510000-127532600	Weak transcription	Fetal Heart	heart
28	chr5:127511000-127532400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:127511400-127535000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:127513000-127529200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr5:127514000-127529200	Weak transcription	HSMMtube	muscle
32	chr5:127514400-127533000	Weak transcription	NHLF	lung
33	chr5:127515600-127529400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:127515600-127533200	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:127516400-127536800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:127516600-127534600	Weak transcription	HMEC	breast
37	chr5:127516800-127534400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:127517400-127532200	Weak transcription	K562	blood
39	chr5:127520400-127534800	Weak transcription	HSMM	muscle
40	chr5:127521200-127537200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:127522400-127534400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:127522400-127534600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:127522600-127529200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:127522600-127529600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr5:127522600-127532000	Weak transcription	Dnd41	blood
46	chr5:127522600-127532400	Weak transcription	Primary T cells from cord blood	blood
47	chr5:127522600-127532400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:127522600-127532600	Weak transcription	Fetal Thymus	thymus
49	chr5:127522600-127533000	Weak transcription	Ovary	ovary
50	chr5:127522600-127533200	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links