Variant report

Variant	rs2924256
Chromosome Location	chr17:46319648-46319649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46297106..46299092-chr17:46317071..46320031,2	K562	blood:
2	chr17:46304702..46306804-chr17:46316986..46319945,3	K562	blood:
3	chr17:46317007..46319839-chr17:46328201..46331501,3	K562	blood:
4	chr17:46312738..46316050-chr17:46317088..46320426,4	K562	blood:
5	chr17:46316932..46321831-chr17:46322420..46326261,9	K562	blood:
6	chr17:46297106..46299092-chr17:46317071..46320404,3	K562	blood:
7	chr17:46305304..46308204-chr17:46318445..46319954,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1039840	0.88[ASN][1000 genomes]
rs10853093	0.81[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs11079815	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079817	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651669	0.87[CHD][hapmap];0.85[LWK][hapmap];0.88[ASN][1000 genomes]
rs11655781	0.87[CHD][hapmap];0.82[LWK][hapmap];0.88[ASN][1000 genomes]
rs12452103	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1377201	1.00[CHB][hapmap]
rs1452661	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1452664	0.88[ASN][1000 genomes]
rs1470831	0.84[ASN][1000 genomes]
rs16954700	0.88[ASN][1000 genomes]
rs16954904	0.88[ASN][1000 genomes]
rs16954931	0.88[ASN][1000 genomes]
rs16955493	0.88[ASN][1000 genomes]
rs16956479	0.88[ASN][1000 genomes]
rs188268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1910574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs208006	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs208007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs208013	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs208017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs208018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2123342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2325886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28439030	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28482329	0.88[ASN][1000 genomes]
rs28551638	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2924253	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2924255	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924258	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2938471	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2938480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2938482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957932	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[LWK][hapmap];0.94[ASN][1000 genomes]
rs2957933	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[LWK][hapmap];0.94[ASN][1000 genomes]
rs3792693	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4488493	0.88[ASN][1000 genomes]
rs4794427	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs4794467	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4794488	0.81[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs4794561	0.88[ASN][1000 genomes]
rs4794603	0.88[ASN][1000 genomes]
rs5016303	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6504100	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504101	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207270	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7208796	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7210959	0.88[ASN][1000 genomes]
rs7213530	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215230	0.88[ASN][1000 genomes]
rs7217741	0.88[ASN][1000 genomes]
rs7218167	0.87[CHD][hapmap];0.82[LWK][hapmap];0.88[ASN][1000 genomes]
rs7220940	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066529	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8067485	0.88[ASN][1000 genomes]
rs8071262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8077814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8079360	0.88[ASN][1000 genomes]
rs8079809	0.88[ASN][1000 genomes]
rs8080144	0.88[ASN][1000 genomes]
rs8080544	0.88[ASN][1000 genomes]
rs8081199	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8182234	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs9303543	0.88[ASN][1000 genomes]
rs9303544	0.82[CHD][hapmap];0.82[LWK][hapmap];0.82[ASN][1000 genomes]
rs979746	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[LWK][hapmap];0.94[ASN][1000 genomes]
rs9893405	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9899753	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9904487	0.88[ASN][1000 genomes]
rs9911479	0.88[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2924256	MLX	cis	cerebellum	SCAN
rs2924256	HOXB2	cis	parietal	SCAN
rs2924256	AARSD1	cis	parietal	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46306600-46335400	Weak transcription	Thymus	Thymus
2	chr17:46314200-46320200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr17:46315800-46319800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:46315800-46319800	Enhancers	HSMM	muscle
5	chr17:46315800-46319800	Enhancers	Osteobl	bone
6	chr17:46315800-46323000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr17:46316400-46322800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr17:46316400-46324600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:46316600-46319800	Enhancers	Fetal Muscle Leg	muscle
10	chr17:46316600-46320200	Enhancers	Fetal Kidney	kidney
11	chr17:46316600-46320600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr17:46317200-46320000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:46317200-46320200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr17:46317200-46322600	Enhancers	Fetal Intestine Small	intestine
15	chr17:46317200-46324000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr17:46317400-46319800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr17:46317400-46319800	Enhancers	Adipose Nuclei	Adipose
18	chr17:46317400-46319800	Enhancers	Small Intestine	intestine
19	chr17:46317400-46322400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:46317400-46322800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr17:46317400-46322800	Enhancers	Fetal Intestine Large	intestine
22	chr17:46317600-46319800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:46317600-46319800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr17:46317600-46319800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:46317600-46319800	Enhancers	Fetal Stomach	stomach
26	chr17:46317600-46320400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr17:46317800-46319800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr17:46317800-46319800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:46317800-46319800	Enhancers	Psoas Muscle	Psoas
30	chr17:46317800-46319800	Enhancers	NHLF	lung
31	chr17:46317800-46320000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:46317800-46320200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr17:46317800-46320600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr17:46317800-46323000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:46318000-46319800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:46318000-46319800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr17:46318000-46319800	Enhancers	Left Ventricle	heart
38	chr17:46318000-46319800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr17:46318000-46320000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr17:46318600-46319800	Enhancers	Right Atrium	heart
41	chr17:46318800-46319800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr17:46318800-46320000	Enhancers	Primary T cells from cord blood	blood
43	chr17:46318800-46321400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:46318800-46321600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr17:46318800-46322400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:46318800-46322600	Enhancers	NHDF-Ad	bronchial
47	chr17:46319000-46319800	Enhancers	NHEK	skin
48	chr17:46319000-46321400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr17:46319000-46321400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:46319000-46321400	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links