Variant report

Variant	rs6433891
Chromosome Location	chr2:181969709-181969710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:181969337..181969909-chr2:182579643..182580293,2	MCF-7	breast:
2	chr2:181969275..181969953-chr2:182330780..182331934,4	MCF-7	breast:
3	chr2:181968911..181970241-chr2:182330712..182332033,4	MCF-7	breast:

Extended variants
information (count: 156 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10176421	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10184839	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10184846	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10191559	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10194653	0.91[ASN][1000 genomes]
rs10204666	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10207887	0.94[ASN][1000 genomes]
rs10208742	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1040228	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1040229	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1046193	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10930952	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1107786	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11902472	0.94[ASN][1000 genomes]
rs11902868	0.95[ASN][1000 genomes]
rs12151685	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12468438	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1356549	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1401124	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1401125	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1401126	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1401128	0.91[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1401131	0.91[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1401132	0.81[ASN][1000 genomes]
rs1401133	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1401134	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1401135	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1518451	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1518452	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1518455	0.91[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1518456	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1518457	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1518458	0.84[ASN][1000 genomes]
rs1518460	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1568258	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17605034	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17605475	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17668125	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17668214	0.91[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1829366	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1850640	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2048976	0.91[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2048977	0.91[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2090558	0.91[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2102855	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2139060	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2139061	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2176550	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2368189	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2368190	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2368191	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2368194	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35781643	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3792220	0.91[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4077213	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4077924	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4563182	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs4575685	0.84[EUR][1000 genomes]
rs4666662	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4666663	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4666668	0.91[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs4666669	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4666670	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4666684	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4666685	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4666991	0.82[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap]
rs4666996	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4666997	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs4667004	0.91[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs4667020	0.91[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4667030	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4667035	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4667041	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4667082	0.95[ASN][1000 genomes]
rs55639120	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55851371	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55977965	0.84[ASN][1000 genomes]
rs56206103	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56319018	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56970984	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57230918	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58057770	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59834478	0.84[ASN][1000 genomes]
rs60513343	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61483341	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62178778	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62178779	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62178780	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62178781	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62178784	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62178785	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62180115	0.81[ASN][1000 genomes]
rs62180116	0.81[ASN][1000 genomes]
rs62180119	0.81[ASN][1000 genomes]
rs62180120	0.81[ASN][1000 genomes]
rs62180121	0.81[ASN][1000 genomes]
rs62180122	0.81[ASN][1000 genomes]
rs62180124	0.81[ASN][1000 genomes]
rs62180125	0.81[ASN][1000 genomes]
rs62180126	0.81[ASN][1000 genomes]
rs62180127	0.81[ASN][1000 genomes]
rs62180130	0.84[ASN][1000 genomes]
rs62180132	0.84[ASN][1000 genomes]
rs62180153	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62180157	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62180159	0.80[EUR][1000 genomes]
rs62181564	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62181565	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62181567	0.82[ASN][1000 genomes]
rs62181569	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62181570	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62181571	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62181572	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62181573	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62181575	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62181577	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62181579	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62181580	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433880	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6433881	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6433885	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6433887	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6433893	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6704963	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6709398	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6716258	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6717895	0.81[ASN][1000 genomes]
rs6725837	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6731523	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6737752	0.82[ASN][1000 genomes]
rs6747525	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6747797	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6754913	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6759130	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6759951	0.81[ASN][1000 genomes]
rs72883577	0.81[ASN][1000 genomes]
rs72883586	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72883599	0.81[ASN][1000 genomes]
rs72885232	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72885247	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72885292	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72887003	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7349233	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7370006	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7370048	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7371242	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7371259	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7565130	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7574282	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7575113	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7578218	0.82[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs908734	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs908736	0.91[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6433891	LOC729026	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181967800-181970800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:181969000-181972400	Enhancers	Dnd41	blood
3	chr2:181969000-181974600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:181969200-181969800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:181969200-181969800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr2:181969200-181970400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:181969200-181970800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:181969200-181972000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:181969200-181972400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:181969200-181972600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:181969200-181973200	Enhancers	Primary T cells from cord blood	blood
12	chr2:181969200-181973200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr2:181969200-181973600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr2:181969200-181974200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:181969400-181969800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:181969400-181970000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:181969400-181971800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:181969400-181972400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:181969400-181972600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:181969400-181972600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:181969400-181972600	Enhancers	HSMMtube	muscle
22	chr2:181969400-181972800	Enhancers	Fetal Brain Male	brain
23	chr2:181969400-181973400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr2:181969400-181974000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:181969400-181974200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:181969600-181969800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:181969600-181969800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:181969600-181969800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr2:181969600-181969800	Enhancers	Thymus	Thymus
30	chr2:181969600-181970000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:181969600-181970000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:181969600-181970000	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:181969600-181970400	Weak transcription	A549	lung
34	chr2:181969600-181971000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:181969600-181971000	Enhancers	GM12878-XiMat	blood
36	chr2:181969600-181971800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:181969600-181971800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:181969600-181972400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:181969600-181972400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:181969600-181972400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:181969600-181972400	Enhancers	Osteobl	bone
42	chr2:181969600-181973200	Enhancers	NHDF-Ad	bronchial

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