Variant report

Variant	rs11164608
Chromosome Location	chr1:92947427-92947428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92946105..92948838-chr1:92954798..92958203,3	K562	blood:
2	chr1:92946814..92948469-chr1:92951541..92953098,2	K562	blood:

Variant related genes	Relation type
ENSG00000162676	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs1034218	0.92[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes]
rs1034219	0.82[CHB][hapmap]
rs1059267	0.93[EUR][1000 genomes]
rs1059268	0.93[EUR][1000 genomes]
rs10735779	0.82[CHB][hapmap]
rs10735781	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs10735782	0.82[CHB][hapmap]
rs10747445	0.82[CHB][hapmap]
rs10747446	0.95[CEU][hapmap];0.85[CHB][hapmap];0.80[EUR][1000 genomes]
rs10747448	0.82[CHB][hapmap]
rs10747449	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10747450	0.82[CHB][hapmap]
rs10782912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782922	0.82[CHB][hapmap]
rs10782936	0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes]
rs10782937	0.81[EUR][1000 genomes]
rs10782940	0.82[CHB][hapmap]
rs10874710	0.92[CEU][hapmap];0.85[CHB][hapmap];0.87[EUR][1000 genomes]
rs10874711	0.92[CEU][hapmap];0.85[CHB][hapmap];0.87[EUR][1000 genomes]
rs10874715	0.82[CHB][hapmap]
rs10874716	0.82[CHB][hapmap]
rs10874724	0.85[EUR][1000 genomes]
rs10874725	0.85[CHB][hapmap];0.85[EUR][1000 genomes]
rs10874726	0.83[EUR][1000 genomes]
rs10874727	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs10874728	0.82[CHB][hapmap]
rs10874729	0.82[CHB][hapmap]
rs10874731	0.82[CHB][hapmap]
rs11164601	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164778	0.82[CHB][hapmap]
rs11164785	0.83[EUR][1000 genomes]
rs11164791	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs11164796	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12025792	0.92[CEU][hapmap];0.85[CHB][hapmap];0.82[EUR][1000 genomes]
rs12046739	0.82[CHB][hapmap]
rs1325434	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[EUR][1000 genomes]
rs1359490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408916	0.82[CHB][hapmap]
rs1415294	0.82[CHB][hapmap]
rs1415295	0.82[CHB][hapmap]
rs1537498	0.82[CHB][hapmap]
rs1538029	0.82[CHB][hapmap]
rs1556562	0.82[CHB][hapmap]
rs1556564	0.82[CHB][hapmap]
rs1556565	0.82[CHB][hapmap]
rs1570837	0.82[CHB][hapmap]
rs1886682	0.82[CHB][hapmap]
rs1886683	0.82[CHB][hapmap]
rs1886684	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs1932965	1.00[CHB][hapmap]
rs1932966	0.82[CHB][hapmap]
rs2027059	0.82[CHB][hapmap]
rs2027060	0.82[CHB][hapmap]
rs2039452	0.82[CHB][hapmap]
rs2050597	0.82[CHB][hapmap]
rs2095268	0.82[CHB][hapmap]
rs2151577	0.82[CHB][hapmap]
rs2391164	0.82[CHB][hapmap]
rs2893217	0.82[CHB][hapmap]
rs3903212	0.91[CEU][hapmap];0.85[CHB][hapmap];0.90[EUR][1000 genomes]
rs3928821	0.82[CHB][hapmap]
rs3936944	0.82[EUR][1000 genomes]
rs3936945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs3936946	1.00[CHB][hapmap]
rs4000736	0.85[EUR][1000 genomes]
rs4294422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs4294424	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4484938	0.93[EUR][1000 genomes]
rs4565725	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568842	0.82[CHB][hapmap]
rs4847181	0.82[CHB][hapmap]
rs4847232	0.82[CHB][hapmap]
rs4847247	0.82[CHB][hapmap]
rs4847280	0.82[CHB][hapmap]
rs4847305	0.82[CHB][hapmap]
rs4847327	0.82[CHB][hapmap]
rs4847377	0.82[CHB][hapmap]
rs4847432	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs4970700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970702	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]
rs4970703	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970707	0.87[CEU][hapmap];0.85[CHB][hapmap];0.90[EUR][1000 genomes]
rs4970709	0.82[CHB][hapmap]
rs4970710	0.82[CHB][hapmap]
rs4970712	0.82[CHB][hapmap]
rs4970714	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6422512	0.82[CHB][hapmap]
rs6422515	0.82[CHB][hapmap]
rs6603976	0.93[EUR][1000 genomes]
rs6603979	0.82[CHB][hapmap]
rs6603981	0.82[CHB][hapmap]
rs6603982	0.82[CHB][hapmap]
rs6603984	0.82[CHB][hapmap]
rs6603985	0.82[CHB][hapmap]
rs6603986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6603987	0.82[CHB][hapmap]
rs6603988	0.82[CHB][hapmap]
rs6603989	0.86[EUR][1000 genomes]
rs6603990	0.82[CHB][hapmap]
rs6603992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6603993	0.82[CHB][hapmap]
rs6603994	0.82[CHB][hapmap]
rs6603995	0.82[CHB][hapmap]
rs6603997	0.92[CEU][hapmap];0.85[CHB][hapmap];0.83[EUR][1000 genomes]
rs6603999	0.82[CHB][hapmap]
rs6660962	0.90[EUR][1000 genomes]
rs6671114	0.82[CHB][hapmap]
rs6675246	0.82[CHB][hapmap]
rs6682801	0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes]
rs6692187	0.82[CHB][hapmap]
rs6695638	0.86[EUR][1000 genomes]
rs6696173	0.82[CHB][hapmap]
rs6697491	0.86[EUR][1000 genomes]
rs6701130	0.82[CHB][hapmap]
rs6703440	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs722356	0.92[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes]
rs7417452	0.85[EUR][1000 genomes]
rs7513775	0.95[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes]
rs7514156	0.94[EUR][1000 genomes]
rs7514716	0.82[CHB][hapmap]
rs7515577	0.82[CHB][hapmap]
rs7520630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521752	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs7529332	0.82[CHB][hapmap]
rs7529630	0.82[CHB][hapmap]
rs7530780	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs7535490	0.85[EUR][1000 genomes]
rs7540564	0.94[EUR][1000 genomes]
rs7541942	0.85[EUR][1000 genomes]
rs7545318	0.82[CHB][hapmap]
rs7553367	0.82[CHB][hapmap]
rs7556243	0.82[CHB][hapmap]
rs912795	0.82[CHB][hapmap]
rs912796	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[EUR][1000 genomes]
rs914966	0.82[CHB][hapmap]
rs942753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945724	0.82[CHB][hapmap]
rs963043	0.82[CHB][hapmap]
rs963044	0.82[CHB][hapmap]
rs9651256	0.82[CHB][hapmap]
rs989653	0.82[CHB][hapmap]

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	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92942600-92947600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:92942800-92947600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:92943200-92949200	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr1:92943400-92949200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
5	chr1:92945200-92947600	Weak transcription	GM12878-XiMat	blood
6	chr1:92945200-92949000	Weak transcription	HepG2	liver
7	chr1:92945600-92947600	Transcr. at gene 5' and 3'	Thymus	Thymus
8	chr1:92945600-92948000	Bivalent Enhancer	Fetal Lung	lung
9	chr1:92945600-92952200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:92945600-92952600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:92945600-92952800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr1:92945800-92947600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:92945800-92947600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr1:92945800-92947800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr1:92945800-92947800	Bivalent Enhancer	Fetal Stomach	stomach
16	chr1:92945800-92948000	Bivalent Enhancer	Fetal Brain Male	brain
17	chr1:92945800-92949200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:92945800-92950000	Bivalent Enhancer	Fetal Heart	heart
19	chr1:92945800-92951800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:92946000-92947600	Weak transcription	Primary T cells from cord blood	blood
21	chr1:92946000-92948000	Enhancers	Gastric	stomach
22	chr1:92946000-92951000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
23	chr1:92946000-92952000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:92946200-92947800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
25	chr1:92946400-92947600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
26	chr1:92946400-92947600	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr1:92946400-92947600	Bivalent Enhancer	Placenta	Placenta
28	chr1:92946600-92947600	Bivalent Enhancer	Liver	Liver
29	chr1:92946600-92947600	Bivalent Enhancer	Brain Substantia Nigra	brain
30	chr1:92946600-92947600	Bivalent Enhancer	HMEC	breast
31	chr1:92946600-92947800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:92946600-92947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:92946600-92947800	Bivalent Enhancer	Brain Angular Gyrus	brain
34	chr1:92946600-92947800	Bivalent Enhancer	Left Ventricle	heart
35	chr1:92946600-92947800	Bivalent Enhancer	HUVEC	blood vessel
36	chr1:92946600-92948000	Bivalent Enhancer	Stomach Mucosa	stomach
37	chr1:92946600-92952000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
38	chr1:92946800-92947600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
39	chr1:92946800-92947600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:92946800-92947600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
41	chr1:92946800-92947800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:92946800-92947800	Bivalent Enhancer	Brain Germinal Matrix	brain
43	chr1:92946800-92947800	Weak transcription	Ovary	ovary
44	chr1:92946800-92947800	Weak transcription	Spleen	Spleen
45	chr1:92946800-92948000	Bivalent Enhancer	NH-A	brain
46	chr1:92946800-92949400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
47	chr1:92947000-92947600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
48	chr1:92947000-92947600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:92947000-92947600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:92947000-92947600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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