Variant report

Variant	rs3829215
Chromosome Location	chr11:71707489-71707490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr11:71706332-71707510	PBDE	blood:	n/a	chr11:71706978-71706989 chr11:71706853-71706870

No.	Distal block	Cell Line	Cell type
1	chr11:71705470..71708103-chr11:71933163..71935736,2	K562	blood:
2	chr11:71706620..71708724-chr11:71709578..71711375,2	MCF-7	breast:
3	chr11:71706733..71708815-chr11:71716970..71719911,2	K562	blood:

Variant related genes	Relation type
IL18BP	TF binding region
ENSG00000137497	Chromatin interaction
ENSG00000137496	Chromatin interaction
ENSG00000165458	Chromatin interaction

Extended variants
information (count: 155 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10128658	0.87[GIH][hapmap]
rs10450664	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.81[LWK][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10501408	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.84[MKK][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057992	0.84[ASW][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10736780	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736781	0.87[GIH][hapmap]
rs10736783	1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751188	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751189	0.87[GIH][hapmap]
rs10751191	1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751192	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793011	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793013	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793014	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793015	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793016	0.86[GIH][hapmap]
rs10898812	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235440	0.87[GIH][hapmap]
rs11235441	0.84[CHB][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235444	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12272086	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12275171	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs12293195	0.89[EUR][1000 genomes]
rs1541304	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1541306	0.87[GIH][hapmap]
rs1548348	0.92[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.84[MKK][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1573501	0.92[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1573502	0.87[GIH][hapmap]
rs1573503	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17161751	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161966	0.87[GIH][hapmap]
rs17161980	0.87[GIH][hapmap]
rs1791456	0.88[ASN][1000 genomes]
rs1892920	1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894004	0.92[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.84[MKK][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1939241	0.89[AMR][1000 genomes]
rs1939242	0.87[GIH][hapmap]
rs1939243	0.86[GIH][hapmap]
rs2155142	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155145	0.92[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2155146	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250866	0.87[GIH][hapmap]
rs2276384	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.84[MKK][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276396	0.81[ASN][1000 genomes]
rs2298456	0.87[GIH][hapmap]
rs2298457	0.87[GIH][hapmap]
rs2503	0.84[ASW][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2508856	0.92[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2508860	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2511114	0.87[GIH][hapmap]
rs2511120	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2735787	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2845860	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2852365	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2885661	0.82[ASN][1000 genomes]
rs3018301	0.87[GIH][hapmap]
rs3018302	0.87[GIH][hapmap]
rs3018310	0.81[CHB][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3750907	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3750908	0.87[GIH][hapmap]
rs3793938	0.87[GIH][hapmap]
rs3814721	0.87[GIH][hapmap]
rs4121395	0.87[GIH][hapmap]
rs4245463	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4269951	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4338555	0.87[GIH][hapmap]
rs4378421	0.88[ASN][1000 genomes]
rs4387373	0.92[CHB][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4399349	0.97[ASN][1000 genomes]
rs4412771	0.86[ASN][1000 genomes]
rs4477459	0.85[CHB][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs482197	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs488829	0.88[ASN][1000 genomes]
rs492135	0.90[ASN][1000 genomes]
rs4943821	0.87[GIH][hapmap]
rs4944232	0.87[GIH][hapmap]
rs4944242	0.87[GIH][hapmap]
rs4944243	1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945378	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945382	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4945391	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4945392	1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];0.84[MKK][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945426	0.87[GIH][hapmap]
rs4945434	0.87[GIH][hapmap]
rs498770	0.82[ASN][1000 genomes]
rs518959	0.88[ASN][1000 genomes]
rs538569	0.87[ASN][1000 genomes]
rs541022	0.87[GIH][hapmap]
rs542097	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs560777	0.87[GIH][hapmap]
rs56255748	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs564294	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs567026	0.92[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.84[MKK][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs567851	0.88[ASN][1000 genomes]
rs575831	0.84[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs575871	0.85[CHB][hapmap]
rs577435	0.92[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58417942	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs592051	0.84[ASN][1000 genomes]
rs595062	0.92[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60054591	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs612255	0.92[CHB][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs620945	0.81[ASN][1000 genomes]
rs628025	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs645603	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592447	1.00[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.84[MKK][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592448	0.87[GIH][hapmap]
rs6592450	0.83[GIH][hapmap]
rs6592451	0.87[GIH][hapmap]
rs6592453	0.87[GIH][hapmap]
rs6592455	0.87[GIH][hapmap]
rs6592456	0.92[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592457	0.92[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs659513	0.87[GIH][hapmap]
rs661290	0.85[CHB][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs671132	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs673478	0.87[GIH][hapmap]
rs674319	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs679926	0.87[GIH][hapmap]
rs686340	0.92[CHB][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7101553	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7102192	0.87[GIH][hapmap]
rs7102523	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102693	0.82[ASN][1000 genomes]
rs7106653	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106730	0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7111379	0.92[CHB][hapmap];0.89[EUR][1000 genomes]
rs7113436	0.92[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.84[MKK][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113520	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113549	0.87[GIH][hapmap]
rs7115513	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121080	1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126394	1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7128317	0.87[GIH][hapmap]
rs7128974	0.87[GIH][hapmap]
rs73531955	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543612	0.86[ASN][1000 genomes]
rs73543635	0.89[EUR][1000 genomes]
rs73543640	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73543643	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7924834	0.85[CHB][hapmap];0.91[GIH][hapmap];0.84[MKK][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925411	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap]
rs7925604	1.00[CHB][hapmap]
rs7931941	0.87[GIH][hapmap]
rs7937408	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7938496	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7942626	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948821	0.87[GIH][hapmap]
rs7951564	0.96[ASN][1000 genomes]
rs949323	0.85[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs949326	0.84[CHB][hapmap];0.91[GIH][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9666346	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9735988	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3829215	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71660800-71709400	Weak transcription	Stomach Mucosa	stomach
2	chr11:71661000-71709600	Weak transcription	Small Intestine	intestine
3	chr11:71672200-71715200	Weak transcription	Fetal Brain Male	brain
4	chr11:71672400-71709400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:71672600-71709200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:71673600-71710800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:71673800-71707800	Weak transcription	Fetal Heart	heart
8	chr11:71674000-71710600	Weak transcription	Brain Germinal Matrix	brain
9	chr11:71677000-71709400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:71677200-71736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:71678000-71710600	Weak transcription	HMEC	breast
12	chr11:71681200-71709400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:71684200-71709000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:71689000-71711800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:71695200-71709400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:71695200-71709400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:71695200-71710600	Weak transcription	Esophagus	oesophagus
18	chr11:71695400-71707600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:71695400-71709800	Weak transcription	Dnd41	blood
20	chr11:71695400-71712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:71695400-71713000	Weak transcription	Psoas Muscle	Psoas
22	chr11:71698600-71708800	Strong transcription	A549	lung
23	chr11:71699400-71707800	Weak transcription	Hela-S3	cervix
24	chr11:71699400-71710200	Weak transcription	NHDF-Ad	bronchial
25	chr11:71699600-71707800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:71699600-71710000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:71699600-71710000	Weak transcription	NHLF	lung
28	chr11:71699600-71712400	Weak transcription	Aorta	Aorta
29	chr11:71699800-71709200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:71701000-71708400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:71701200-71708600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:71701200-71709200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:71702000-71708000	Weak transcription	Fetal Thymus	thymus
34	chr11:71702000-71710200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:71702200-71707800	Weak transcription	Spleen	Spleen
36	chr11:71702200-71709200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:71702200-71709600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:71702200-71709800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:71702200-71710000	Weak transcription	Pancreas	Pancrea
40	chr11:71702200-71710200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:71702200-71710200	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:71702200-71712600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:71702200-71713000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:71702200-71713400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr11:71702200-71713800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:71702400-71709400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:71702400-71710000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:71702400-71713000	Weak transcription	Fetal Kidney	kidney
49	chr11:71702600-71709200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr11:71702800-71708200	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links