Variant report

Variant	rs999641
Chromosome Location	chr2:111598407-111598408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10164695	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10165663	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10168046	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10169926	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10171765	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10175204	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10177582	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10180551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10181923	0.91[ASN][1000 genomes]
rs10182055	0.91[ASN][1000 genomes]
rs10184452	0.85[CEU][hapmap];0.91[ASN][1000 genomes]
rs10185326	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10186144	0.91[ASN][1000 genomes]
rs10186627	0.88[ASN][1000 genomes]
rs10186753	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10188079	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10188169	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10189620	0.91[ASN][1000 genomes]
rs10193050	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196268	0.96[ASN][1000 genomes]
rs10197135	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10197140	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197548	0.91[ASN][1000 genomes]
rs10204997	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10208020	0.90[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs11123211	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11123221	0.86[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs11123227	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11123229	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs1114413	0.84[JPT][hapmap]
rs11892748	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11898005	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12104528	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12151613	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328918	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs12329097	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12329103	0.96[ASN][1000 genomes]
rs12329216	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12329344	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12465068	0.96[ASN][1000 genomes]
rs12468564	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470827	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs12470872	0.91[ASN][1000 genomes]
rs12471566	0.96[ASN][1000 genomes]
rs12474757	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12476335	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12476386	0.84[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs12477660	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13384044	0.87[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs13397744	0.91[ASN][1000 genomes]
rs13416355	0.96[ASN][1000 genomes]
rs13424637	0.87[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs13426283	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13427098	0.96[ASN][1000 genomes]
rs13429695	0.88[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs13429892	0.91[ASN][1000 genomes]
rs1513825	0.87[ASN][1000 genomes]
rs1513826	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1533296	0.96[ASN][1000 genomes]
rs17465162	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17465210	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17466548	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17466576	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs17525147	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17545048	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17545166	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17545286	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1810229	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1872062	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs2200211	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2220092	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2341897	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2341913	0.84[JPT][hapmap]
rs28448691	0.91[ASN][1000 genomes]
rs28769005	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28792074	0.96[ASN][1000 genomes]
rs2880192	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs28806919	0.96[ASN][1000 genomes]
rs28811027	0.96[ASN][1000 genomes]
rs28855178	0.96[ASN][1000 genomes]
rs28855668	0.94[ASN][1000 genomes]
rs3761710	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3789121	0.84[JPT][hapmap]
rs3789127	0.84[JPT][hapmap]
rs3789130	0.90[ASN][1000 genomes]
rs3789131	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3789134	0.90[ASN][1000 genomes]
rs4332932	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4849120	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4849162	0.87[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs4849164	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs4849165	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs4849170	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs4849201	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4849203	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs57196449	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62159471	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62159472	0.91[ASN][1000 genomes]
rs62159473	0.91[ASN][1000 genomes]
rs62159474	0.91[ASN][1000 genomes]
rs62159500	0.96[ASN][1000 genomes]
rs62159501	0.96[ASN][1000 genomes]
rs62159502	0.96[ASN][1000 genomes]
rs62159503	0.93[ASN][1000 genomes]
rs62159553	0.94[ASN][1000 genomes]
rs62159554	0.90[ASN][1000 genomes]
rs62159555	0.90[ASN][1000 genomes]
rs62159556	0.94[ASN][1000 genomes]
rs6542188	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs6542189	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs6542190	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs6714299	0.94[ASN][1000 genomes]
rs6720034	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs6720503	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6737631	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs6751930	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6758344	0.87[CEU][hapmap];0.96[ASN][1000 genomes]
rs72832894	0.96[ASN][1000 genomes]
rs7355443	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs7355554	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs750225	0.96[ASN][1000 genomes]
rs7563488	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7569806	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs7609002	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs880506	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs880507	0.90[ASN][1000 genomes]
rs900556	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs900557	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9308689	0.89[ASN][1000 genomes]
rs9308690	0.91[ASN][1000 genomes]
rs9308691	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9308692	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs932076	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs932077	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs932078	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs952249	0.91[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111562800-111604000	Weak transcription	Lung	lung
2	chr2:111593200-111598800	Weak transcription	Pancreas	Pancrea
3	chr2:111593400-111601200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:111594000-111598800	Enhancers	Fetal Muscle Leg	muscle
5	chr2:111596400-111599600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:111596400-111601000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:111596400-111601200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:111596400-111603400	Weak transcription	Fetal Brain Male	brain
9	chr2:111596400-111611600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:111596600-111601200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:111596800-111600400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:111596800-111601000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:111596800-111601200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:111596800-111609600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:111597000-111600800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:111597000-111611400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:111597200-111600800	Weak transcription	Primary T cells from cord blood	blood
18	chr2:111597200-111601000	Weak transcription	Fetal Stomach	stomach
19	chr2:111597200-111604000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:111597400-111599400	Weak transcription	Thymus	Thymus
21	chr2:111597400-111600800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:111597600-111601000	Weak transcription	Fetal Lung	lung
23	chr2:111597600-111604000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:111598000-111598600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr2:111598400-111598600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:111598400-111599000	Weak transcription	Fetal Thymus	thymus
27	chr2:111598400-111599600	Weak transcription	Dnd41	blood

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